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    GLT8D1 glycosyltransferase 8 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55830, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GLT8D1provided by HGNC
    Official Full Name
    glycosyltransferase 8 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24870
    See related
    Ensembl:ENSG00000016864 MIM:618399; AllianceGenome:HGNC:24870
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD-017; MSTP139
    Summary
    This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 29.7), testis (RPKM 28.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLT8D1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52694486..52705791, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52727397..52738983, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52728502..52739807, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein nucleolar 3 Neighboring gene small nucleolar RNA, C/D box 19C Neighboring gene small nucleolar RNA, C/D box 69 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14452 Neighboring gene signal peptidase complex subunit 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52749367-52749954 Neighboring gene NIMA related kinase 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:52765581-52766780 Neighboring gene zinc finger protein 610 pseudogene

    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. Glycosyltransferase 8 domain-containing protein 1 (GLT8D1) is a UDP-dependent galactosyltransferase. Vicente JB, et al. Sci Rep, 2023 Dec 7. PMID 38066107, Free PMC Article
    2. GLT8D1 overexpression as a novel prognostic biomarker in human cutaneous melanoma. Hu H, et al. Melanoma Res, 2019 Dec. PMID 31305325
    3. Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis. Cao B, et al. Neurobiol Aging, 2021 May. PMID 33581933
    4. GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients. Yilihamu M, et al. Neurobiol Aging, 2021 Jun. PMID 33714647
    5. Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer. Xu H, et al. BMC Med Genomics, 2023 Jun 5. PMID 37277853, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glycosyltransferase 8 domain-containing protein 1 (GLT8D1) is a UDP-dependent galactosyltransferase.
      Title: Glycosyltransferase 8 domain-containing protein 1 (GLT8D1) is a UDP-dependent galactosyltransferase.
    2. Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer.
      Title: Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer.
    3. GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients.
      Title: GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients.
    4. Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.
      Title: Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.
    5. Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis.
      Title: Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis.
    6. Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
      Title: Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
    7. Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China.
      Title: Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China.
    8. The GEO data analysis exhibited that the GLT8D1 mRNA expression was upregulated in the melanoma samples compared with the benign nevus samples. Likewise, GLT8D1 protein expression in the cutaneous melanoma and mucosal melanoma samples was significantly higher than that in the benign nevus tissue samples.
      Title: GLT8D1 overexpression as a novel prognostic biomarker in human cutaneous melanoma.
    9. Amyotrophic lateral sclerosis (ALS)-causing mutations found within the gene encoding the glycosyltransferase GLT8D1. Five ALS-associated GLT8D1 mutations proximate to the substrate binding site.
      Title: Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
    10. ALMS1, GLT8D1, and CSNK2B are schizophrenia risk genes.
      Title: Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14611, DKFZp781O20198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    glycosyltransferase 8 domain-containing protein 1
    Names
    glycosyltransferase AD-017
    NP_001010983.1
    NP_001265209.1
    NP_001265210.1
    NP_060916.1
    NP_690909.1
    XP_047304521.1
    XP_047304522.1
    XP_047304523.1
    XP_047304524.1
    XP_047304525.1
    XP_047304526.1
    XP_047304527.1
    XP_047304528.1
    XP_047304529.1
    XP_054203218.1
    XP_054203219.1
    XP_054203220.1
    XP_054203221.1
    XP_054203222.1
    XP_054203223.1
    XP_054203224.1
    XP_054203225.1
    XP_054203226.1

    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_001010983.3 → NP_001010983.1  glycosyltransferase 8 domain-containing protein 1

      See identical proteins and their annotated locations for NP_001010983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AF157318, AF175227, AJ271710, BI495741, BI559798
      Consensus CDS
      CCDS2862.1
      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Conserved Domains (1) summary
      cd06429
      Location:66 → 351
      GT8_like_1; GT8_like_1 represents a subfamily of GT8 with unknown function

    2. NM_001278280.2 → NP_001265209.1  glycosyltransferase 8 domain-containing protein 1

      See identical proteins and their annotated locations for NP_001265209.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AF157318, AF176777, AK027517, BC119671, BI495741, BI559798
      Consensus CDS
      CCDS2862.1
      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Conserved Domains (1) summary
      cd06429
      Location:66 → 351
      GT8_like_1; GT8_like_1 represents a subfamily of GT8 with unknown function

    3. NM_001278281.2 → NP_001265210.1  glycosyltransferase 8 domain-containing protein 1

      See identical proteins and their annotated locations for NP_001265210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AK027517, BI495741, CR749821
      Consensus CDS
      CCDS2862.1
      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Related
      ENSP00000419612.2, ENST00000478968.6
      Conserved Domains (1) summary
      cd06429
      Location:66 → 351
      GT8_like_1; GT8_like_1 represents a subfamily of GT8 with unknown function

    4. NM_018446.4 → NP_060916.1  glycosyltransferase 8 domain-containing protein 1

      See identical proteins and their annotated locations for NP_060916.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AF157318, BI495741, BI559798
      Consensus CDS
      CCDS2862.1
      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Related
      ENSP00000266014.5, ENST00000266014.11
      Conserved Domains (1) summary
      cd06429
      Location:66 → 351
      GT8_like_1; GT8_like_1 represents a subfamily of GT8 with unknown function

    5. NM_152932.3 → NP_690909.1  glycosyltransferase 8 domain-containing protein 1

      See identical proteins and their annotated locations for NP_690909.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AK027517, AK311674, BC119670, BI495741
      Consensus CDS
      CCDS2862.1
      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Related
      ENSP00000378263.3, ENST00000394783.7
      Conserved Domains (1) summary
      cd06429
      Location:66 → 351
      GT8_like_1; GT8_like_1 represents a subfamily of GT8 with unknown function

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52694486..52705791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448569.1 → XP_047304525.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
      Related
      ENSP00000418853.1, ENST00000491606.5

    2. XM_047448570.1 → XP_047304526.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    3. XM_047448573.1 → XP_047304529.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    4. XM_047448572.1 → XP_047304528.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    5. XM_047448568.1 → XP_047304524.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    6. XM_047448571.1 → XP_047304527.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    7. XM_047448565.1 → XP_047304521.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    8. XM_047448567.1 → XP_047304523.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    9. XM_047448566.1 → XP_047304522.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52727397..52738983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347250.1 → XP_054203225.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    2. XM_054347247.1 → XP_054203222.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    3. XM_054347249.1 → XP_054203224.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    4. XM_054347248.1 → XP_054203223.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    5. XM_054347246.1 → XP_054203221.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    6. XM_054347251.1 → XP_054203226.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    7. XM_054347243.1 → XP_054203218.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    8. XM_054347245.1 → XP_054203220.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5

    9. XM_054347244.1 → XP_054203219.1  glycosyltransferase 8 domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q68CQ7, Q7Z4D1, Q8N2J6, Q9P0I5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CQ7.2 GenPept UniProtKB/Swiss-Prot:Q68CQ7

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