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

Gene ID: 152992, updated on 1-Aug-2020

Summary

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
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

Genomic context

See TRMT44 in Genome Data Viewer
Location:
4p16.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (8440774..8512531)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8442532..8478282)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA oxidase 3, pristanoyl Neighboring gene RNA, 5S ribosomal pseudogene 152 Neighboring gene uncharacterized LOC105374376 Neighboring gene Sharpr-MPRA regulatory region 4448 Neighboring gene G protein-coupled receptor 78 Neighboring gene carboxypeptidase Z

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12891, FLJ35725

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
tRNA (uracil) methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032691.1 RefSeqGene

    Range
    4973..40751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350233.1NP_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:55166
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase
  2. NM_152544.3NP_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
    Related
    ENSP00000374387.4, ENST00000389737.5
    Conserved Domains (1) summary
    pfam07757
    Location:296407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    8440774..8512531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513410.2XP_011511712.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X5

    Conserved Domains (1) summary
    pfam07757
    Location:296402
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase
  2. XM_017007811.1XP_016863300.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X6

  3. XM_011513407.2XP_011511709.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X2

    Conserved Domains (1) summary
    pfam07757
    Location:296407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase
  4. XM_011513406.2XP_011511708.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X1

    Conserved Domains (1) summary
    pfam07757
    Location:296407
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase
  5. XM_011513409.3XP_011511711.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    See identical proteins and their annotated locations for XP_011511711.1

    Conserved Domains (1) summary
    pfam07757
    Location:55166
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase
  6. XM_011513408.1XP_011511710.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X3

    Conserved Domains (1) summary
    pfam07757
    Location:67178
    AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

RNA

  1. XR_001741149.1 RNA Sequence

  2. XR_427468.3 RNA Sequence

  3. XR_924916.2 RNA Sequence

  4. XR_001741150.2 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.
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