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    Amt aminomethyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 434437, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Amtprovided by MGI
    Official Full Name
    aminomethyltransferaseprovided by MGI
    Primary source
    MGI:MGI:3646700
    See related
    Ensembl:ENSMUSG00000032607 AllianceGenome:MGI:3646700
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GCVT; EG434437
    Summary
    Predicted to enable aminomethyltransferase activity. Predicted to be involved in glycine decarboxylation via glycine cleavage system. Located in mitochondrion. Is expressed in embryo and extraembryonic component. Human ortholog(s) of this gene implicated in glycine encephalopathy. Orthologous to human AMT (aminomethyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney adult (RPKM 29.8), liver adult (RPKM 20.4) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Amt in Genome Data Viewer
    Location:
    9 F2; 9 59.19 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (108174104..108179501)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108296905..108302302)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene dystroglycan 1 Neighboring gene STARR-positive B cell enhancer ABC_E8316 Neighboring gene STARR-positive B cell enhancer ABC_E2915 Neighboring gene nicolin 1 Neighboring gene STARR-positive B cell enhancer ABC_E6805 Neighboring gene STARR-seq mESC enhancer starr_25204 Neighboring gene T cell leukemia translocation altered gene Neighboring gene ras homolog family member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Narisawa A, et al. Hum Mol Genet, 2012 Apr 1. PMID 22171071, Free PMC Article
    2. Genomic organization of the murine aminomethyltransferase gene (Amt). Backofen B, et al. DNA Seq, 2002 Aug. PMID 12487019
    3. Cloning and characterization of the mammalian-specific nicolin 1 gene (NICN1) encoding a nuclear 24 kDa protein. Backofen B, et al. Eur J Biochem, 2002 Nov. PMID 12392556
    4. An asymmetrically localized Staufen2-dependent RNA complex regulates maintenance of mammalian neural stem cells. Vessey JP, et al. Cell Stem Cell, 2012 Oct 5. PMID 22902294
    5. Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism. Peng MZ, et al. Cell Mol Life Sci, 2022 Jun 21. PMID 35727412, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aminomethyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aminomethyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glycine decarboxylation via glycine cleavage system ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycine decarboxylation via glycine cleavage system ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of glycine cleavage complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    aminomethyltransferase, mitochondrial
    Names
    glycine cleavage system T protein
    NP_001013836.1
    XP_011241196.1

    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_001013814.2 → NP_001013836.1  aminomethyltransferase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001013836.1

      Status: VALIDATED

      Source sequence(s)
      AC161260
      Consensus CDS
      CCDS23519.1
      UniProtKB/Swiss-Prot
      Q8CFA2
      UniProtKB/TrEMBL
      A2RSW6
      Related
      ENSMUSP00000035230.6, ENSMUST00000035230.7
      Conserved Domains (3) summary
      PLN02319
      Location:16 → 400
      PLN02319; aminomethyltransferase
      pfam01571
      Location:39 → 291
      GCV_T; Aminomethyltransferase folate-binding domain
      pfam08669
      Location:301 → 392
      GCV_T_C; Glycine cleavage T-protein C-terminal barrel domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      108174104..108179501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242894.2 → XP_011241196.1  aminomethyltransferase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl39066
      Location:1 → 202
      GCV_T; Aminomethyltransferase folate-binding domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CFA2.1 GenPept UniProtKB/Swiss-Prot:Q8CFA2

    Gene LinkOut

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

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