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TRMT44 tRNA methyltransferase 44 homolog [ Homo sapiens (human) ]

Gene ID: 152992, updated on 5-Mar-2024

Summary

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Official Symbol
TRMT44provided by HGNC
Official Full Name
tRNA methyltransferase 44 homologprovided by HGNC
Primary source
HGNC:HGNC:26653
See related
Ensembl:ENSG00000155275 MIM:614309; AllianceGenome:HGNC:26653
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
TRM44; C4orf23; METTL19
Summary
The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in ovary (RPKM 2.0), testis (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

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See TRMT44 in Genome Data Viewer
Location:
4p16.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8440777..8516950)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8420523..8496676)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8442504..8478282)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8355016-8355566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8376338-8376838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8377985-8378502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383209-8383808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383809-8384407 Neighboring gene acyl-CoA oxidase 3, pristanoyl Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8394357-8395162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8395893-8396860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8396861-8397826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8397827-8398794 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8405151-8405348 Neighboring gene RNA, 5S ribosomal pseudogene 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8442396-8443129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8472992-8473640 Neighboring gene Sharpr-MPRA regulatory region 4448 Neighboring gene NANOG hESC enhancer GRCh37_chr4:8482448-8483174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8492043-8492759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8492867-8493385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8500378-8500878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8505909-8506796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8512723-8513222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8524675-8525176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8546250-8546937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8561698-8562412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8576398-8576952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8582279-8582940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8588835-8589335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8595495-8596169 Neighboring gene uncharacterized LOC124900659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8608601-8609168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8609169-8609736 Neighboring gene G protein-coupled receptor 78 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8618505-8618698 Neighboring gene carboxypeptidase Z

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
  • 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. Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS). Leschziner GD, et al. Epilepsy Res, 2011 Sep. PMID 21658913
  2. DUF1613 is a novel family of eucaryotic AdoMet-dependent methyltransferases. Knizewski L, et al. Cell Cycle, 2006 Jul. PMID 16861910
  3. Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial. Wade R, et al. Haematologica, 2011 Oct. PMID 21659360, Free PMC Article
  4. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study postulated that Q8IYL2 is a causative gene for PEPS , after exhaustive resequencing and bioinformatic analysis.
    Title: Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).
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
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12891, FLJ35725

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables tRNA (uridine) methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tRNA(Ser) (uridine(44)-2'-O-)-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
probable tRNA (uracil-O(2)-)-methyltransferase
Names
methyltransferase like 19
methyltransferase-like protein 19
NP_001337162.1
NP_689757.2
XP_011511708.1
XP_011511709.1
XP_011511710.1
XP_011511711.1
XP_011511712.1
XP_016863300.1
XP_047305634.1
XP_047305635.1
XP_047305636.1
XP_047305637.1
XP_047305638.1
XP_047305639.1
XP_047305640.1
XP_047305641.1
XP_047305642.1
XP_054205030.1
XP_054205031.1
XP_054205032.1
XP_054205033.1
XP_054205034.1
XP_054205035.1
XP_054205036.1

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.

Genomic

  1. NG_032691.2 RefSeqGene

    Range
    5002..40780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350233.2 → NP_001337162.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of 5' coding region and initiates translation at an alternate start codon, compared to variant 2. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AC104825, AC105345, AW001883
    Conserved Domains (1) summary
    pfam07757
    Location:55 → 166
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  2. NM_152544.3 → NP_689757.2  probable tRNA (uracil-O(2)-)-methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_689757.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (2).
    Source sequence(s)
    AC104825, AC105345, CA450523, CB991944
    Consensus CDS
    CCDS3402.2
    UniProtKB/Swiss-Prot
    Q8IYL2, Q8NA95
    Related
    ENSP00000374387.4, ENST00000389737.5
    Conserved Domains (1) summary
    pfam07757
    Location:296 → 407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    8440777..8516950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449685.1 → XP_047305641.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  2. XM_047449681.1 → XP_047305637.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  3. XM_047449679.1 → XP_047305635.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  4. XM_047449680.1 → XP_047305636.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  5. XM_047449683.1 → XP_047305639.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  6. XM_047449684.1 → XP_047305640.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  7. XM_047449682.1 → XP_047305638.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  8. XM_047449678.1 → XP_047305634.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q8IYL2, Q8NA95

  9. XM_011513408.2 → XP_011511710.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X5

    Conserved Domains (1) summary
    pfam07757
    Location:67 → 178
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  10. XM_011513409.4 → XP_011511711.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X6

    See identical proteins and their annotated locations for XP_011511711.1

    Conserved Domains (1) summary
    pfam07757
    Location:55 → 166
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  11. XM_011513407.3 → XP_011511709.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X3

    Conserved Domains (1) summary
    pfam07757
    Location:296 → 407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  12. XM_011513406.3 → XP_011511708.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X2

    Conserved Domains (1) summary
    pfam07757
    Location:296 → 407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  13. XM_017007811.2 → XP_016863300.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X8

  14. XM_011513410.3 → XP_011511712.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X7

    Conserved Domains (1) summary
    pfam07757
    Location:296 → 402
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

  15. XM_047449686.1 → XP_047305642.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    8420523..8496676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349057.1 → XP_054205032.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

  2. XM_054349058.1 → XP_054205033.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X5

  3. XM_054349059.1 → XP_054205034.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X6

  4. XM_054349056.1 → XP_054205031.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X3

  5. XM_054349055.1 → XP_054205030.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X2

  6. XM_054349060.1 → XP_054205035.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X7

  7. XM_054349061.1 → XP_054205036.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X9

RNA

  1. XR_008486938.1 RNA Sequence

  2. XR_008486933.1 RNA Sequence

  3. XR_008486934.1 RNA Sequence

  4. XR_008486936.1 RNA Sequence

  5. XR_008486937.1 RNA Sequence

  6. XR_008486935.1 RNA Sequence

  7. XR_008486939.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001031742.1: Suppressed sequence

    Description
    NM_001031742.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from laboratory mouse: 2310079F23Rik (GeneID:78890).

  2. NM_024950.1: Suppressed sequence

    Description
    NM_024950.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYL2.2 GenPept UniProtKB/Swiss-Prot:Q8IYL2

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