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MMUT methylmalonyl-CoA mutase [ Homo sapiens (human) ]

Gene ID: 4594, updated on 7-Dec-2018

Summary

Official Symbol
MMUTprovided by HGNC
Official Full Name
methylmalonyl-CoA mutaseprovided by HGNC
Primary source
HGNC:HGNC:7526
See related
Ensembl:ENSG00000146085 MIM:609058
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
MCM; MUT
Summary
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues See more
Orthologs

Genomic context

See MMUT in Genome Data Viewer
Location:
6p12.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (49430360..49463328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49398073..49431041, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 65 pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 Neighboring gene centromere protein Q Neighboring gene glycine-N-acyltransferase like 3 Neighboring gene chromosome 6 open reading frame 141

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
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
cobalamin binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
methylmalonyl-CoA mutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylmalonyl-CoA mutase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
modified amino acid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
homocysteine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl Coenzyme A mutase
methylmalonyl-CoA isomerase
methylmalonyl-CoA mutase c.*192delA
methylmalonyl-CoA mutase c.*51C>G
methylmalonyl-CoA mutase variant c.1495G>A
methylmalonyl-CoA mutase variant c.2011A>G
methylmalonyl-CoA mutase variant c.2150G>T
methylmalonyl-CoA mutase variant c.322C>T
methylmalonyl-CoA mutase variant c.613_615delGAA
methylmalonyl-CoA mutase variant c.636G>A
methylmalonyl-CoA mutase variant c.643G>A
mutant methylmalonyl CoA mutase
truncated methylmalonyl CoA mutase
truncated methylmalonyl-CoA mutase variant c.1420C>T
truncated methylmalonyl-CoA mutase variant c.2179C>T
truncated methylmalonyl-CoA mutase variant c.91C>T
NP_000246.2
XP_005249200.1

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_007100.1 RefSeqGene

    Range
    4812..37780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000255.4NP_000246.2  methylmalonyl-CoA mutase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_000246.2

    Status: REVIEWED

    Source sequence(s)
    AK292568, AK312611, AL590668
    Consensus CDS
    CCDS4924.1
    UniProtKB/Swiss-Prot
    P22033
    UniProtKB/TrEMBL
    A0A024RD82, B2R6K1
    Related
    ENSP00000274813.3, ENST00000274813.3
    Conserved Domains (1) summary
    PRK09426
    Location:41744
    PRK09426; methylmalonyl-CoA mutase; Reviewed

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    49430360..49463328 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249143.3XP_005249200.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005249200.1

    UniProtKB/Swiss-Prot
    P22033
    UniProtKB/TrEMBL
    A0A024RD82
    Conserved Domains (1) summary
    PRK09426
    Location:41744
    PRK09426; methylmalonyl-CoA mutase; Reviewed
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