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

Gene ID: 25974, updated on 13-Jun-2021

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
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Genomic context

See MMACHC in Genome Data Viewer
Location:
1p34.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (45500229..45513382)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45965972..45979054)

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

Associated conditions

Description Tests
Cobalamin C disease Compare labs
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
GeneReviews: Not available

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

General protein information

Preferred Names
cyanocobalamin reductase / alkylcobalamin dealkylase
Names
alkylcobalamin:glutathione S-alkyltransferase
cyanocobalamin reductase (cyanide-eliminating)
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
methylmalonic aciduria and homocystinuria type C protein
NP_001317469.1
NP_056321.2
XP_005270781.1

NCBI Reference Sequences (RefSeq)

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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 109.20210514

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  cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

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