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MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [ Homo sapiens (human) ]

Gene ID: 25974, updated on 9-Jul-2017
Official Symbol
MMACHCprovided by HGNC
Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuriaprovided by HGNC
Primary source
HGNC:HGNC:24525
See related
Ensembl:ENSG00000132763 MIM:609831; Vega:OTTHUMG00000007742
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]
Orthologs
Location:
1p34.1
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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, member 1 (nuclear) Neighboring gene testis-specific 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

  • 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?

NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25671, DKFZp564I122

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IDA
Inferred from Direct Assay
more info
PubMed 
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
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 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 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 IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
methylmalonic aciduria and homocystinuria type C protein
Names
cyanocobalamin reductase (cyanide-eliminating)

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
  2. NM_015506.2NP_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, OTTHUMP00000009243, ENST00000401061.8, OTTHUMT00000020864
    Conserved Domains (1) summary
    pfam16690
    Location:20234
    MMACHC; Methylmalonic aciduria and homocystinuria type C family

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_000001.11 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005270724.4XP_005270781.1  methylmalonic aciduria and homocystinuria type C protein isoform X2

    Conserved Domains (1) summary
    pfam16690
    Location:27169
    MMACHC; Methylmalonic aciduria and homocystinuria type C family
  2. XM_011541204.2XP_011539506.1  methylmalonic aciduria and homocystinuria type C protein isoform X1

    Related
    ENSP00000478859.1, ENST00000616135.1
    Conserved Domains (1) summary
    pfam16690
    Location:1177
    MMACHC; Methylmalonic aciduria and homocystinuria type C family

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    46083117..46094004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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