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METTL1 methyltransferase like 1 [ Homo sapiens (human) ]

Gene ID: 4234, updated on 13-Mar-2020

Summary

Official Symbol
METTL1provided by HGNC
Official Full Name
methyltransferase like 1provided by HGNC
Primary source
HGNC:HGNC:7030
See related
Ensembl:ENSG00000037897 MIM:604466
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
TRM8; TRMT8; C12orf1; YDL201w
Summary
This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 7.6), thyroid (RPKM 7.3) and 25 other tissues See more
Orthologs

Genomic context

See METTL1 in Genome Data Viewer
Location:
12q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57768471..57772105, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58162254..58165914, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene cytochrome P450 family 27 subfamily B member 1 Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene advillin

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat downregulates the expression of many proteins, including D1075-like gene product, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ95748

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA (guanine-N7-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA (guanine-N7-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
tRNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
RNA (guanine-N7)-methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA (guanine-N7)-methylation IEA
Inferred from Electronic Annotation
more info
 
tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA modification IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
tRNA methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tRNA (guanine-N(7)-)-methyltransferase
Names
D1075-like gene product
mRNA (guanine-N(7)-)-methyltransferase
methyltransferase-like protein 1
miRNA (guanine-N(7)-)-methyltransferase
tRNA (guanine(46)-N(7))-methyltransferase
tRNA(m7G46)-methyltransferase
NP_005362.3
NP_075422.3
XP_005268930.1
XP_016874794.2

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_047060.1 RefSeqGene

    Range
    5027..8661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005371.6NP_005362.3  tRNA (guanine-N(7)-)-methyltransferase isoform a

    See identical proteins and their annotated locations for NP_005362.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and it encodes the longer isoform (a).
    Source sequence(s)
    AC025165, AI168455, Y18643
    Consensus CDS
    CCDS8955.3
    UniProtKB/Swiss-Prot
    Q9UBP6
    Related
    ENSP00000314441.7, ENST00000324871.12
    Conserved Domains (1) summary
    pfam02390
    Location:77254
    Methyltransf_4; Putative methyltransferase
  2. NM_023033.4NP_075422.3  tRNA (guanine-N(7)-)-methyltransferase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform c) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA317248, AC025165, AI168455, AK223202
    Consensus CDS
    CCDS8956.1
    UniProtKB/Swiss-Prot
    Q9UBP6
    Related
    ENSP00000257848.7, ENST00000257848.7
    Conserved Domains (1) summary
    COG0220
    Location:1693
    TrmB; tRNA G46 methylase TrmB [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57768471..57772105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268873.2XP_005268930.1  tRNA (guanine-N(7)-)-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005268930.1

    Conserved Domains (1) summary
    pfam02390
    Location:34211
    Methyltransf_4; Putative methyltransferase
  2. XM_017019305.2XP_016874794.2  tRNA (guanine-N(7)-)-methyltransferase isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:77191
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_023032.1: Suppressed sequence

    Description
    NM_023032.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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