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GTDC1 glycosyltransferase like domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79712, updated on 2-Nov-2024

Summary

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Official Symbol
GTDC1provided by HGNC
Official Full Name
glycosyltransferase like domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20887
See related
Ensembl:ENSG00000121964 MIM:610165; AllianceGenome:HGNC:20887
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QTMAN; mat-Xa; Hmat-Xa
Summary
Enables tRNA-queuosine(34) beta-mannosyltransferase activity. Involved in regulation of translation and tRNA modification. Located in nucleus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 3.1), fat (RPKM 2.4) and 25 other tissues See more
Orthologs
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Genomic context

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See GTDC1 in Genome Data Viewer
Location:
2q22.3
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (143938068..144333069, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (144386085..144781108, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (144695635..145090636, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 15 Neighboring gene uncharacterized LOC101928361 Neighboring gene ARHGAP15 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:144419424-144419959 Neighboring gene NANOG hESC enhancer GRCh37_chr2:144486483-144487103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144537063-144537656 Neighboring gene MPRA-validated peak3890 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144649008-144649513 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:144649514-144650018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144664226-144664784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144694058-144694741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11990 Neighboring gene uncharacterized LOC101928386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16601 Neighboring gene MPRA-validated peak3893 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:145025446-145026228 Neighboring gene Sharpr-MPRA regulatory region 4867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145045189-145045690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145048337-145048837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145090135-145090712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145114539-145115052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16603 Neighboring gene skeletal muscle cis-regulatory module overlapping ZEB2 Neighboring gene Sharpr-MPRA regulatory region 3137 Neighboring gene VISTA enhancer hs407 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:145236544-145237256 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145267859-145268774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145274915-145275416 Neighboring gene zinc finger E-box binding homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1412 Neighboring gene long intergenic non-protein coding RNA 2993 Neighboring gene ZEB2 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library. Zhao E, et al. DNA Cell Biol, 2004 Mar. PMID 15068588
  2. Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. Igo RP Jr, et al. Genes Immun, 2019 Jul. PMID 30100616, Free PMC Article
  3. Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914. Shimono N, et al. Biosci Biotechnol Biochem, 2011. PMID 21821951
  4. Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders. Aksoy I, et al. Hum Mol Genet, 2017 Jan 15. PMID 28365779
  5. Glycosylated queuosines in tRNAs optimize translational rate and post-embryonic growth. Zhao X, et al. Cell, 2023 Dec 7. PMID 37992713

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genomewide linkage scan by a targeted, high-density association scan for genetic variants enhancing persistently negative tuberculin skin test (PTST) in two independent Ugandan tuberculosis household cohorts. Association found with SNPs in neighboring genes ZEB2 and GTDC1 supported by both samples. Bioinformatic analysis suggests these variants may affect PTST- by regulating the histone deacetylase pathway.
    Title: Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants.
  2. By deriving iPSCs from this patient and differentiating them into neural progenitor cells (NPCs) and neurons we dissected the disease process at the cellular level and observed defects in both NPCs and neuronal cells. We also showed that disruption of GTDC1 expression in wild type human NPCs and neurons showed a similar phenotype as patient's iPSCs
    Title: Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.
  3. The elevated expression of the Hmat-Xa gene (GTDC1) might serve as a candidate marker for colon adenocarcinoma.
    Title: Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.
  6. relatively high expression level in the adult lung, spleen, testis, and peripheral blood leukocyte.
    Title: Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables tRNA-queuosine(34) beta-mannosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA modification IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tRNA-queuosine alpha-mannosyltransferase
Names
glycosyltransferase-like 1
glycosyltransferase-like domain-containing protein 1
mannosyltransferase candidate
mannosyltransferase-like protein Xa
NP_001006637.1
NP_001158101.1
NP_001271162.1
NP_001271163.1
NP_001271164.1
NP_001271167.1
NP_001341279.1
NP_001341280.1
NP_001341281.1
NP_001341282.1
NP_001341283.1
NP_001341284.1
NP_001341285.1
NP_001341287.1
NP_001341289.1
NP_001341290.1
NP_001341291.1
NP_001363235.1
NP_001363236.1
NP_001363237.1
NP_001363238.1
NP_001363239.1
NP_001363240.1
NP_001363241.1
NP_001363242.1
NP_001363243.1
NP_001363244.1
NP_001363245.1
NP_001363246.1
NP_001363247.1
NP_001363248.1
NP_001363249.1
NP_001363250.1
NP_001363251.1
NP_001363252.1
NP_001363253.1
NP_001363254.1
NP_001363255.1
NP_001363256.1
NP_001363257.1
NP_001363258.1
NP_001363259.1
NP_001363260.1
NP_001363261.1
NP_078935.2
XP_011510157.1
XP_011510158.1
XP_024308913.1
XP_047301797.1
XP_047301798.1
XP_047301799.1
XP_047301800.1
XP_047301801.1
XP_047301802.1
XP_047301803.1
XP_054199899.1
XP_054199900.1
XP_054199901.1
XP_054199902.1
XP_054199903.1
XP_054199904.1
XP_054199905.1
XP_054199906.1
XP_054199907.1
XP_054199908.1
XP_054199909.1
XP_054199910.1
XP_054199911.1
XP_054199912.1
XP_054199913.1
XP_054199914.1
XP_054199915.1
XP_054199916.1
XP_054199917.1
XP_054199918.1
XP_054199919.1
XP_054199920.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001006636.5 → NP_001006637.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    See identical proteins and their annotated locations for NP_001006637.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variants 3, 12, 18, and 21-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Related
    ENSP00000386581.1, ENST00000409214.5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  2. NM_001164629.5 → NP_001158101.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    See identical proteins and their annotated locations for NP_001158101.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 12, 18, and 21-29 all encode the same isoform (a).
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Related
    ENSP00000438323.1, ENST00000542155.5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  3. NM_001284233.4 → NP_001271162.1  tRNA-queuosine alpha-mannosyltransferase isoform c

    See identical proteins and their annotated locations for NP_001271162.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has a shorter 5' UTR, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a. Variants 4, 17, 32, and 33 all encode the same isoform (c).
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS63029.1
    UniProtKB/Swiss-Prot
    Q4AE62
    Related
    ENSP00000241391.6, ENST00000241391.9
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  4. NM_001284234.3 → NP_001271163.1  tRNA-queuosine alpha-mannosyltransferase isoform d

    See identical proteins and their annotated locations for NP_001271163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Variants 5 and 9 both encode the same isoform (d).
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS74582.1
    UniProtKB/Swiss-Prot
    Q4AE62
    Related
    ENSP00000437964.1, ENST00000463875.6
    Conserved Domains (2) summary
    COG0438
    Location:147 → 321
    RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam12038
    Location:1 → 35
    DUF3524; Domain of unknown function (DUF3524)

  5. NM_001284235.2 → NP_001271164.1  tRNA-queuosine alpha-mannosyltransferase isoform e

    See identical proteins and their annotated locations for NP_001271164.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' and 3' UTRs, and lacks several exons in the 3' coding region but has an alternate 3' terminal exon, compared to variant 1. The encoded isoform (e) is shorter at the C-terminus, compared to isoform a. Variants 6, 14, 16, and 44 all encode the same isoform (e).
    Source sequence(s)
    AC009957, AC010130, AC010681
    UniProtKB/Swiss-Prot
    Q4AE62
    Related
    ENST00000491448.5
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  6. NM_001284238.3 → NP_001271167.1  tRNA-queuosine alpha-mannosyltransferase isoform f

    See identical proteins and their annotated locations for NP_001271167.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (f) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS74583.1
    UniProtKB/Swiss-Prot
    Q4AE62
    Related
    ENSP00000484990.1, ENST00000618778.4
    Conserved Domains (2) summary
    COG0438
    Location:244 → 418
    RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam12038
    Location:24 → 132
    DUF3524; Domain of unknown function (DUF3524)

  7. NM_001354350.2 → NP_001341279.1  tRNA-queuosine alpha-mannosyltransferase isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 13 and 43, encodes isoform g.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (1) summary
    cd01635
    Location:135 → 247
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

  8. NM_001354351.2 → NP_001341280.1  tRNA-queuosine alpha-mannosyltransferase isoform d

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS74582.1
    Conserved Domains (2) summary
    COG0438
    Location:147 → 321
    RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    pfam12038
    Location:1 → 35
    DUF3524; Domain of unknown function (DUF3524)

  9. NM_001354352.2 → NP_001341281.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 19 and 39-42, encodes isoform h.
    Source sequence(s)
    AC009957, AC010130, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  10. NM_001354353.2 → NP_001341282.1  tRNA-queuosine alpha-mannosyltransferase isoform i

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC016910
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  11. NM_001354354.2 → NP_001341283.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  12. NM_001354355.3 → NP_001341284.1  tRNA-queuosine alpha-mannosyltransferase isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 8 and 43, encodes isoform g.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (1) summary
    cd01635
    Location:135 → 247
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

  13. NM_001354356.2 → NP_001341285.1  tRNA-queuosine alpha-mannosyltransferase isoform e

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  14. NM_001354358.1 → NP_001341287.1  tRNA-queuosine alpha-mannosyltransferase isoform e

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010681
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  15. NM_001354360.2 → NP_001341289.1  tRNA-queuosine alpha-mannosyltransferase isoform c

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS63029.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  16. NM_001354361.1 → NP_001341290.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Related
    ENSP00000339750.4, ENST00000344850.8
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  17. NM_001354362.3 → NP_001341291.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 10 and 39-42, encodes isoform h.
    Source sequence(s)
    AC009957, AC010130, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  18. NM_001376306.2 → NP_001363235.1  tRNA-queuosine alpha-mannosyltransferase isoform j

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20) encodes the longest isoform (j).
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (2) summary
    cd01635
    Location:336 → 448
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  19. NM_001376307.2 → NP_001363236.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 1, 3, 12, 18, and 22-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  20. NM_001376308.2 → NP_001363237.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variants 1, 3, 12, 18, 21, and 23-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  21. NM_001376309.2 → NP_001363238.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23), as well as variants 1, 3, 12, 18, 21, 22, and 24-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  22. NM_001376310.2 → NP_001363239.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24), as well as variants 1, 3, 12, 18, 21-23, and 25-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  23. NM_001376311.2 → NP_001363240.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25), as well as variants 1, 3, 12, 18, 21-24, and 26-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  24. NM_001376312.2 → NP_001363241.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26), as well as variants 1, 3, 12, 18, 21-25, and 27-29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Related
    ENSP00000507713.1, ENST00000682281.1
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  25. NM_001376313.2 → NP_001363242.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (27), as well as variants 1, 3, 12, 18, 21-26, 28, and 29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  26. NM_001376314.2 → NP_001363243.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (28), as well as variants 1, 3, 12, 18, 21-27, and 29, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  27. NM_001376315.2 → NP_001363244.1  tRNA-queuosine alpha-mannosyltransferase isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29), as well as variants 1, 3, 12, 18, and 21-28, encodes isoform a.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS33300.1
    UniProtKB/Swiss-Prot
    A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
    Conserved Domains (2) summary
    cd01635
    Location:287 → 399
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  28. NM_001376316.2 → NP_001363245.1  tRNA-queuosine alpha-mannosyltransferase isoform k

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (2) summary
    cd01635
    Location:290 → 398
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  29. NM_001376317.2 → NP_001363246.1  tRNA-queuosine alpha-mannosyltransferase isoform l

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  30. NM_001376318.2 → NP_001363247.1  tRNA-queuosine alpha-mannosyltransferase isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (32), as well as variants 4, 17, and 33, encodes isoform c.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS63029.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  31. NM_001376319.2 → NP_001363248.1  tRNA-queuosine alpha-mannosyltransferase isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (33), as well as variants 4, 17, and 32, encodes isoform c.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS63029.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  32. NM_001376320.2 → NP_001363249.1  tRNA-queuosine alpha-mannosyltransferase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (34), as well as variants 2 and 35-38, encodes isoform b.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  33. NM_001376321.2 → NP_001363250.1  tRNA-queuosine alpha-mannosyltransferase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (35), as well as variants 2, 34, and 36-38, encodes isoform b.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  34. NM_001376322.2 → NP_001363251.1  tRNA-queuosine alpha-mannosyltransferase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (36), as well as variants 2, 34, 35, 37, and 38, encodes isoform b.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  35. NM_001376323.2 → NP_001363252.1  tRNA-queuosine alpha-mannosyltransferase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (37), as well as variants 2, 34, 35, 36, and 38, encodes isoform b.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  36. NM_001376324.2 → NP_001363253.1  tRNA-queuosine alpha-mannosyltransferase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (38), as well as variants 2 and 34-37, encodes isoform b.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  37. NM_001376325.2 → NP_001363254.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (39), as well as variants 10, 19, and 40-42, encodes isoform h.
    Source sequence(s)
    AC009957, AC010130, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  38. NM_001376326.2 → NP_001363255.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (40), as well as variants 10, 19, 39, 41, and 42, encodes isoform h.
    Source sequence(s)
    AC009957, AC010130, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  39. NM_001376327.2 → NP_001363256.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (41), as well as variants 10, 19, 39, 40, and 42, encodes isoform h.
    Source sequence(s)
    AC009957, AC010130, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  40. NM_001376328.1 → NP_001363257.1  tRNA-queuosine alpha-mannosyltransferase isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (42), as well as variants 10, 19, and 39-41, encodes isoform h.
    Source sequence(s)
    AC009957, AC016910
    Consensus CDS
    CCDS86884.1
    UniProtKB/TrEMBL
    B8ZZ45
    Related
    ENSP00000386691.1, ENST00000409298.5
    Conserved Domains (2) summary
    cd01635
    Location:173 → 281
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  41. NM_001376329.2 → NP_001363258.1  tRNA-queuosine alpha-mannosyltransferase isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (43), as well as variants 8 and 13, encodes isoform g.
    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910
    Conserved Domains (1) summary
    cd01635
    Location:135 → 247
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

  42. NM_001376330.1 → NP_001363259.1  tRNA-queuosine alpha-mannosyltransferase isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (44), as well as variants 6, 14, and 16, encodes isoform e.
    Source sequence(s)
    AC009957, AC010130, AC010681
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  43. NM_001376331.2 → NP_001363260.1  tRNA-queuosine alpha-mannosyltransferase isoform m

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC016910
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  44. NM_001376332.2 → NP_001363261.1  tRNA-queuosine alpha-mannosyltransferase isoform n

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC016910
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  45. NM_024659.6 → NP_078935.2  tRNA-queuosine alpha-mannosyltransferase isoform b

    See identical proteins and their annotated locations for NP_078935.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, and lacks two alternate exons that result in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 34-38 all encode the same isoform (b).
    Source sequence(s)
    AC009957, AC010681, AC016910
    Consensus CDS
    CCDS2185.1
    UniProtKB/Swiss-Prot
    Q4AE62
    Related
    ENSP00000376606.3, ENST00000392867.7
    Conserved Domains (1) summary
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

RNA

  1. NR_148872.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010681, AC016910

  2. NR_164799.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  3. NR_164800.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  4. NR_164801.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  5. NR_164802.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  6. NR_164803.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  7. NR_164804.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  8. NR_164805.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  9. NR_164806.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

  10. NR_164807.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC016910

  11. NR_164808.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC016910

  12. NR_164809.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009957, AC010130, AC010681, AC016910

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    143938068..144333069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445841.1 → XP_047301797.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  2. XM_047445843.1 → XP_047301799.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  3. XM_047445842.1 → XP_047301798.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  4. XM_047445844.1 → XP_047301800.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  5. XM_011511855.4 → XP_011510157.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    See identical proteins and their annotated locations for XP_011510157.1

    Conserved Domains (2) summary
    cd01635
    Location:336 → 448
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:2 → 164
    DUF3524; Domain of unknown function (DUF3524)

  6. XM_024453145.2 → XP_024308913.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    Conserved Domains (2) summary
    cd01635
    Location:304 → 416
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:24 → 132
    DUF3524; Domain of unknown function (DUF3524)

  7. XM_011511856.4 → XP_011510158.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    Conserved Domains (2) summary
    cd01635
    Location:304 → 416
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
    pfam12038
    Location:24 → 132
    DUF3524; Domain of unknown function (DUF3524)

  8. XM_047445845.1 → XP_047301801.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

  9. XM_047445846.1 → XP_047301802.1  tRNA-queuosine alpha-mannosyltransferase isoform X4

  10. XM_047445847.1 → XP_047301803.1  tRNA-queuosine alpha-mannosyltransferase isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    144386085..144781108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343924.1 → XP_054199899.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  2. XM_054343925.1 → XP_054199900.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  3. XM_054343928.1 → XP_054199903.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  4. XM_054343926.1 → XP_054199901.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  5. XM_054343929.1 → XP_054199904.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  6. XM_054343933.1 → XP_054199908.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  7. XM_054343932.1 → XP_054199907.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  8. XM_054343930.1 → XP_054199905.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  9. XM_054343931.1 → XP_054199906.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  10. XM_054343927.1 → XP_054199902.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

  11. XM_054343934.1 → XP_054199909.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

  12. XM_054343940.1 → XP_054199915.1  tRNA-queuosine alpha-mannosyltransferase isoform X8

  13. XM_054343938.1 → XP_054199913.1  tRNA-queuosine alpha-mannosyltransferase isoform X6

  14. XM_054343943.1 → XP_054199918.1  tRNA-queuosine alpha-mannosyltransferase isoform X11

  15. XM_054343942.1 → XP_054199917.1  tRNA-queuosine alpha-mannosyltransferase isoform X10

  16. XM_054343936.1 → XP_054199911.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

  17. XM_054343937.1 → XP_054199912.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

  18. XM_054343935.1 → XP_054199910.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

  19. XM_054343944.1 → XP_054199919.1  tRNA-queuosine alpha-mannosyltransferase isoform X5

  20. XM_054343939.1 → XP_054199914.1  tRNA-queuosine alpha-mannosyltransferase isoform X7

  21. XM_054343941.1 → XP_054199916.1  tRNA-queuosine alpha-mannosyltransferase isoform X9

  22. XM_054343945.1 → XP_054199920.1  tRNA-queuosine alpha-mannosyltransferase isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4AE62.1 GenPept UniProtKB/Swiss-Prot:Q4AE62

Gene LinkOut

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