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    MMACHC metabolism of cobalamin associated C [ Homo sapiens (human) ]

    Gene ID: 25974, updated on 7-Dec-2018

    Summary

    Official Symbol
    MMACHCprovided by HGNC
    Official Full Name
    metabolism of cobalamin associated Cprovided by HGNC
    Primary source
    HGNC:HGNC:24525
    See related
    Ensembl:ENSG00000132763 MIM:609831
    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
    cblC
    Summary
    The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.1), kidney (RPKM 10.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See MMACHC in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (45500184..45511266)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45965856..45976739)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene target of EGR1, exonuclease Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene coiled-coil domain containing 163 Neighboring gene peroxiredoxin 1 Neighboring gene high mobility group box 1 pseudogene 48 Neighboring gene aldo-keto reductase family 1 member A1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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 MMACHC causes methylmalonic aciduria and homocystinuria type cblC, organism-specific biosystem (from REACTOME)
      Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC, organism-specific biosystemDefects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels o...
    • Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystem (from REACTOME)
      Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystemDefects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalam...
    • 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...
    • 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 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 ...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25671, DKFZp564I122

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cyanocobalamin reductase (cyanide-eliminating) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cyanocobalamin reductase (cyanide-eliminating) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cyanocobalamin reductase (cyanide-eliminating) activity TAS
    Traceable Author Statement
    more info
     
    demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cobalamin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cobalamin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cobalamin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    methylmalonic aciduria and homocystinuria type C protein
    Names
    cyanocobalamin reductase (cyanide-eliminating)
    methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

    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_013378.1 RefSeqGene

      Range
      5001..15884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330540.1NP_001317469.1  methylmalonic aciduria and homocystinuria type C protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL451136
      Consensus CDS
      CCDS81315.1
      UniProtKB/Swiss-Prot
      Q9Y4U1
      UniProtKB/TrEMBL
      A0A0C4DGU2
      Related
      ENSP00000478859.1, ENST00000616135.1
      Conserved Domains (1) summary
      pfam16690
      Location:1177
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
    2. NM_015506.3NP_056321.2  methylmalonic aciduria and homocystinuria type C protein isoform 1

      See identical proteins and their annotated locations for NP_056321.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK098537, AL451136, BM980565, BU632364, BU839693
      Consensus CDS
      CCDS41324.1
      UniProtKB/Swiss-Prot
      Q9Y4U1
      Related
      ENSP00000383840.4, ENST00000401061.8
      Conserved Domains (1) summary
      pfam16690
      Location:20234
      MMACHC; Methylmalonic aciduria and homocystinuria type C family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      45500184..45511266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270724.5XP_005270781.1  methylmalonic aciduria and homocystinuria type C protein isoform X1

      Conserved Domains (1) summary
      pfam16690
      Location:27169
      MMACHC; Methylmalonic aciduria and homocystinuria type C family
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