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    MMAB metabolism of cobalamin associated B [ Homo sapiens (human) ]

    Gene ID: 326625, updated on 11-Nov-2018

    Summary

    Official Symbol
    MMABprovided by HGNC
    Official Full Name
    metabolism of cobalamin associated Bprovided by HGNC
    Primary source
    HGNC:HGNC:19331
    See related
    Ensembl:ENSG00000139428 MIM:607568; Vega:OTTHUMG00000169255
    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
    ATR; cob; cblB; CFAP23
    Summary
    This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
    Expression
    Ubiquitous expression in liver (RPKM 6.8), adrenal (RPKM 5.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See MMAB in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (109553715..109573580, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109991520..110011358, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin IH Neighboring gene potassium channel tetramerization domain containing 10 Neighboring gene ubiquitin protein ligase E3B Neighboring gene RNA, U4 small nuclear 32, pseudogene Neighboring gene mevalonate kinase Neighboring gene RNA, 7SK small nuclear pseudogene 250 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene FAM222A antisense RNA 1 Neighboring gene family with sequence similarity 222 member A

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Methylmalonic aciduria cblB type Compare labs

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC20496

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cob(I)yrinic acid a,c-diamide adenosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cob(I)yrinic acid a,c-diamide adenosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    cobalamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cobalamin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    corrinoid adenosyltransferase; cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
    Names
    ATP:cob(I)alamin adenosyltransferase
    ATP:corrinoid adenosyltransferase
    aquocob(I)alamin vitamin B12s adenosyltransferase
    cilia and flagella associated protein 23
    cob(II)alamin adenosyltransferase
    cob(II)yrinic acid a,c-diamide adenosyltransferase
    cobinamide/cobalamin adenosyltransferase
    methylmalonic aciduria (cobalamin deficiency) cblB type
    methylmalonic aciduria type B protein
    NP_443077.1
    XP_011536569.1
    XP_011536570.1
    XP_011536571.1
    XP_024304729.1

    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_007096.1 RefSeqGene

      Range
      4945..24783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052845.3NP_443077.1  corrinoid adenosyltransferase precursor

      See identical proteins and their annotated locations for NP_443077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AC007570, BC011831, BI497024, DA718661
      Consensus CDS
      CCDS9131.1
      UniProtKB/Swiss-Prot
      Q96EY8
      Related
      ENSP00000445920.1, OTTHUMP00000240563, ENST00000545712.6, OTTHUMT00000403128
      Conserved Domains (1) summary
      pfam01923
      Location:59227
      Cob_adeno_trans; Cobalamin adenosyltransferase

    RNA

    1. NR_038118.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the CDS, which includes a premature stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and will not make a functional protein.
      Source sequence(s)
      AC007570, BC011831, BI497024, DA718661

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      109553715..109573580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538267.3XP_011536569.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011536569.1

    2. XM_011538269.2XP_011536571.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X4

      Conserved Domains (1) summary
      pfam01923
      Location:5135
      Cob_adeno_trans; Cobalamin adenosyltransferase
    3. XM_011538268.2XP_011536570.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X3

      Conserved Domains (1) summary
      pfam01923
      Location:17136
      Cob_adeno_trans; Cobalamin adenosyltransferase
    4. XM_024448961.1XP_024304729.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam01923
      Location:58217
      Cob_adeno_trans; Cobalamin adenosyltransferase
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