TMT1A thiol methyltransferase 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMT1Aprovided by HGNC
Official Full Name: thiol methyltransferase 1Aprovided by HGNC
Primary source: HGNC:HGNC:24550
See related: Ensembl:ENSG00000185432 MIM:618338; AllianceGenome:HGNC:24550
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: AAMB; AAM-B; METTL7A
Summary: Enables mRNA m(6)A methyltransferase activity and thiol S-methyltransferase activity. Involved in lncRNA processing; odontogenesis; and osteoblast differentiation. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in liver (RPKM 132.2), thyroid (RPKM 109.3) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 12q13.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (50925015..50932508)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (50887081..50895782)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (51318798..51326291)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors.
Title: The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors.
Transcriptomic characterization revealed that METTL7A inhibits melanoma progression via the p53 signaling pathway and immunomodulatory pathway.
Title: Transcriptomic characterization revealed that METTL7A inhibits melanoma progression via the p53 signaling pathway and immunomodulatory pathway.
A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum.
Title: A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum.
Quantitative proteomic analysis identifies novel regulators of methotrexate resistance in choriocarcinoma.
Title: Quantitative proteomic analysis identifies novel regulators of methotrexate resistance in choriocarcinoma.
Results revealed that the methylation level of METTL7A was downregulated in thyroid cancer, and determined the methylation level of one CpG site at the exon of the METTL7A gene body impacted the transcriptional activity.
Title: DNA methylation of METTL7A gene body regulates its transcriptional level in thyroid cancer.
AAM-B is predominantly localized in lipid droplets and may be involved in recruitment of NS4B protein in the proximity of lipid droplets.
Title: AAM-B Interacts with Nonstructural 4B and Regulates Hepatitis C Virus Propagation.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1922 (e-PCR)
- UniSTS:8960

WI-12477 (e-PCR)
- UniSTS:73023

Cdy0bc04 (e-PCR)
- UniSTS:69987

G20804 (e-PCR)
- UniSTS:11120

A006H14 (e-PCR)
- UniSTS:11121

RH80030 (e-PCR)
- UniSTS:87680

RH68506 (e-PCR)
- UniSTS:44741

D15S1390 (e-PCR)
- UniSTS:474340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables mRNA m(6)A methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thiol S-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in lncRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thiol S-methyltransferase TMT1A

Names: N6-adenosine-methyltransferase TMT1A; methyltransferase TMT1A; methyltransferase like 7A; methyltransferase-like protein 7A; protein AAM-B; putative methyltransferase-like protein 7A

NP_054752.3

EC 2.1.1.348

EC 2.1.1.9

XP_054227679.1

EC 2.1.1.348

EC 2.1.1.9

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)

NM_014033.4 → NP_054752.3 thiol S-methyltransferase TMT1A precursor

See identical proteins and their annotated locations for NP_054752.3

Status: VALIDATED

Source sequence(s)

AC008121, AY358797, BM805242

Consensus CDS

CCDS8804.1

UniProtKB/Swiss-Prot

Q9H7R3, Q9H8H3, Q9UHZ7, Q9Y422

UniProtKB/TrEMBL

H0YI09

Related

ENSP00000331787.4, ENST00000332160.5

Conserved Domains (1) summary

pfam08241
Location:75 → 172

Methyltransf_11; Methyltransferase domain

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

50925015..50932508

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

50887081..50895782

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371704.1 → XP_054227679.1 thiol S-methyltransferase TMT1A isoform X1

UniProtKB/Swiss-Prot

Q9H7R3, Q9H8H3, Q9UHZ7, Q9Y422

UniProtKB/TrEMBL

H0YI09