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    MMAA methylmalonic aciduria (cobalamin deficiency) cblA type [ Homo sapiens (human) ]

    Gene ID: 166785, updated on 22-Apr-2017
    Official Symbol
    MMAAprovided by HGNC
    Official Full Name
    methylmalonic aciduria (cobalamin deficiency) cblA typeprovided by HGNC
    Primary source
    HGNC:HGNC:18871
    See related
    Ensembl:ENSG00000151611 MIM:607481; Vega:OTTHUMG00000161369
    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]
    Orthologs
    Location:
    4q31.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (145619388..145660035)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146540540..146581187)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377467 Neighboring gene uncharacterized LOC285422 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
      Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
    • Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystem (from REACTOME)
      Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystemDefects in MMAA cause methylmalonic aciduria type cblA (cblA aka methylmalonic aciduria type A or vitamin B12-responsive methylmalonic aciduria of cblA complementation type; MIM:251100). Affected ind...
    • Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystem (from REACTOME)
      Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystemDefects in MUT cause methylmalonic aciduria, mut type (MMAM; MIM:251000), an often fatal disorder of organic acid metabolism (Worgan et al. 2006).
    • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
      Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
    • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
      Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of metabolism, organism-specific biosystem (from REACTOME)
      Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystem (from REACTOME)
      Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystemBeta-oxidation begins once fatty acids have been imported into the mitochondrial matrix by carnitine acyltransferases. The beta-oxidation spiral of fatty acids metabolism involves the repetitive remo...
    • Propionyl-CoA catabolism, organism-specific biosystem (from REACTOME)
      Propionyl-CoA catabolism, organism-specific biosystemPropionyl-CoA is a product of the catabolism of the amino acids, leucine, methionine, and threonine, and of the beta-oxidation of fatty acids with odd numbers of carbon atoms. The three reactions of...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC120010, MGC120011, MGC120012, MGC120013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cobalamin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    short-chain fatty acid catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    methylmalonic aciduria type A protein, mitochondrial
    Names
    mutant adenosylcobalamin

    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_007536.1 RefSeqGene

      Range
      5091..45738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_172250.2NP_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
      ENSP00000281317.5, OTTHUMP00000220104, ENST00000281317.9, OTTHUMT00000364668
      Conserved Domains (2) summary
      smart00382
      Location:146245
      AAA; ATPases associated with a variety of cellular activities
      PRK09435
      Location:86418
      PRK09435; membrane ATPase/protein kinase; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      145619388..145660035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531685.2XP_011529987.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011529987.1

      UniProtKB/Swiss-Prot
      Q8IVH4
      Conserved Domains (2) summary
      smart00382
      Location:146245
      AAA; ATPases associated with a variety of cellular activities
      PRK09435
      Location:86418
      PRK09435; membrane ATPase/protein kinase; Provisional
    2. XM_011531684.2XP_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
      ENSP00000442284.2, ENST00000541599.4
      Conserved Domains (2) summary
      smart00382
      Location:146245
      AAA; ATPases associated with a variety of cellular activities
      PRK09435
      Location:86418
      PRK09435; membrane ATPase/protein kinase; Provisional
    3. XM_011531686.2XP_011529988.1  methylmalonic aciduria type A protein, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl21455
      Location:1253
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      146517133..146557773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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