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    MMAA metabolism of cobalamin associated A [ Homo sapiens (human) ]

    Gene ID: 166785, updated on 8-Jul-2021

    Summary

    Official Symbol
    MMAAprovided by HGNC
    Official Full Name
    metabolism of cobalamin associated Aprovided by HGNC
    Primary source
    HGNC:HGNC:18871
    See related
    Ensembl:ENSG00000151611 MIM:607481
    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
    cblA
    Summary
    The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 3.7), kidney (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MMAA in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (145619385..145660033)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146540537..146581185)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC285422 Neighboring gene long intergenic non-protein coding RNA 2491 Neighboring gene nuclear receptor coactivator 4 pseudogene 3 Neighboring gene chromosome 4 open reading frame 51 Neighboring gene zinc finger protein 827 Neighboring gene uncharacterized LOC105377468

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120010, MGC120011, MGC120012, MGC120013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methylmalonic aciduria type A protein, mitochondrial
    Names
    methylmalonic aciduria (cobalamin deficiency) cblA type
    mutant adenosylcobalamin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007536.2 RefSeqGene

      Range
      25344..65992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1301

    mRNA and Protein(s)

    1. NM_001375644.1NP_001362573.1  methylmalonic aciduria type A protein, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC093864
      Related
      ENSP00000497046.1, ENST00000648388.1
      Conserved Domains (1) summary
      PRK09435
      Location:86418
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB
    2. NM_172250.3NP_758454.1  methylmalonic aciduria type A protein, mitochondrial precursor

      See identical proteins and their annotated locations for NP_758454.1

      Status: REVIEWED

      Source sequence(s)
      AC093864, AK126662
      Consensus CDS
      CCDS3766.1
      UniProtKB/Swiss-Prot
      Q8IVH4
      Related
      ENSP00000497008.1, ENST00000649156.2
      Conserved Domains (1) summary
      PRK09435
      Location:86418
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      145619385..145660033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531684.3XP_011529986.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011529986.1

      UniProtKB/Swiss-Prot
      Q8IVH4
      Related
      ENSP00000506503.1, ENST00000679563.1
      Conserved Domains (1) summary
      PRK09435
      Location:86418
      PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB
    2. XM_011531686.2XP_011529988.1  methylmalonic aciduria type A protein, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl38985
      Location:1253
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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