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

    Gene ID: 25840, updated on 10-Dec-2024

    Summary

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    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

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    See TMT1A in Genome Data Viewer
    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_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 519, pseudogene Neighboring gene transmembrane serine protease 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251231-51251732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251733-51252232 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1615 Neighboring gene MPRA-validated peak1732 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51319135-51319678 Neighboring gene Sharpr-MPRA regulatory region 4642 Neighboring gene HIG1 hypoxia inducible domain family member 1C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51346409-51346909 Neighboring gene solute carrier family 11 member 2 Neighboring gene MPRA-validated peak1733 silencer Neighboring gene RNA, U7 small nuclear 39 pseudogene Neighboring gene RNA, U6 small nuclear 87, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Transcriptomic characterization revealed that METTL7A inhibits melanoma progression via the p53 signaling pathway and immunomodulatory pathway. Zhang D, et al. PeerJ, 2023. PMID 37547717, Free PMC Article
    2. A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum. Vera-Montecinos A, et al. Int J Mol Sci, 2023 May 7. PMID 37176112, Free PMC Article
    3. Targeting sequences of UBXD8 and AAM-B reveal that the ER has a direct role in the emergence and regression of lipid droplets. Zehmer JK, et al. J Cell Sci, 2009 Oct 15. PMID 19773358, Free PMC Article
    4. Identification of a novel N-terminal hydrophobic sequence that targets proteins to lipid droplets. Zehmer JK, et al. J Cell Sci, 2008 Jun 1. PMID 18477614, Free PMC Article
    5. Methyltransferase-like protein 7A (METTL7A) promotes cell survival and osteogenic differentiation under metabolic stress. Lee E, et al. Cell Death Discov, 2021 Jun 30. PMID 34226523, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. Quantitative proteomic analysis identifies novel regulators of methotrexate resistance in choriocarcinoma.
      Title: Quantitative proteomic analysis identifies novel regulators of methotrexate resistance in choriocarcinoma.
    5. 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.
    6. 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.
    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

    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

    Homology

    Clone Names

    • DKFZp586A0522

    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
    XP_054227679.1

    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_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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      50925015..50932508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      50887081..50895782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q9H7R3, Q9H8H3, Q9UHZ7, Q9Y422
      UniProtKB/TrEMBL
      H0YI09
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8H3.1 GenPept UniProtKB/Swiss-Prot:Q9H8H3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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