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

Gene ID: 25974, updated on 20-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (45500229..45513382)
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 testis associated actin remodelling kinase 2 Neighboring gene Sharpr-MPRA regulatory region 45 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 Functions

What'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 PubChem

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 metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
cyanocobalamin reductase / alkylcobalamin dealkylase; methylmalonic aciduria and homocystinuria type C protein
Names
alkylcobalamin:glutathione S-alkyltransferase
cyanocobalamin reductase (cyanide-eliminating)
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NP_001317469.1
NP_056321.2
XP_005270781.1

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_013378.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001330540.2NP_001317469.1  cyanocobalamin reductase / alkylcobalamin dealkylase 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  cyanocobalamin reductase / alkylcobalamin dealkylase 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, ENST00000401061.9
    Conserved Domains (1) summary
    pfam16690
    Location:20234
    MMACHC; Methylmalonic aciduria and homocystinuria type C family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    45500229..45513382
    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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