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MUT methylmalonyl CoA mutase [ Homo sapiens (human) ]

Gene ID: 4594, updated on 19-Jul-2014
Official Symbol
MUTprovided by HGNC
Official Full Name
methylmalonyl CoA mutaseprovided by HGNC
Primary source
HGNC:7526
See related
Ensembl:ENSG00000146085; HPRD:02014; MIM:609058; Vega:OTTHUMG00000014814
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
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]
Location:
6p12.3
Exon count :
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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

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
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
methylmalonyl-CoA mutase activity IEA
Inferred from Electronic Annotation
more info
 
modified amino acid binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
homocysteine metabolic process IDA
Inferred from Direct Assay
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl-CoA mutase, mitochondrial
methylmalonyl-CoA isomerase
methylmalonyl Coenzyme A mutase
NP_000246.2

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 

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

mRNA and Protein(s)

  1. NM_000255.3NP_000246.2  methylmalonyl-CoA mutase, mitochondrial precursor

    See proteins identical to NP_000246.2

    Status: REVIEWED

    Source sequence(s)
    AK292568, AK312611, AL590668, DA777441
    Consensus CDS
    CCDS4924.1
    UniProtKB/TrEMBL
    B2R6K1
    UniProtKB/Swiss-Prot
    P22033
    Related
    ENSP00000274813, OTTHUMP00000016578, ENST00000274813, OTTHUMT00000040854
    Conserved Domains (3) summary
    PRK09426
    Location:41744
    Blast Score: 3618
    PRK09426; methylmalonyl-CoA mutase; Reviewed
    cd02071
    Location:616737
    Blast Score: 533
    MM_CoA_mut_B12_BD; methylmalonyl CoA mutase B12 binding domain. This domain binds to B12 (adenosylcobamide), which initiates the conversion of succinyl CoA and methylmalonyl CoA by forming an adenosyl radical, which then undergoes a rearrangement exchanging a hydrogen atom ...
    cd03679
    Location:40574
    Blast Score: 3059
    MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

mRNA and Protein(s)

  1. XM_005249143.2XP_005249200.1  

    See proteins identical to XP_005249200.1

    UniProtKB/Swiss-Prot
    P22033
    Conserved Domains (3) summary
    PRK09426
    Location:41744
    Blast Score: 3618
    PRK09426; methylmalonyl-CoA mutase; Reviewed
    cd02071
    Location:616737
    Blast Score: 533
    MM_CoA_mut_B12_BD; methylmalonyl CoA mutase B12 binding domain. This domain binds to B12 (adenosylcobamide), which initiates the conversion of succinyl CoA and methylmalonyl CoA by forming an adenosyl radical, which then undergoes a rearrangement exchanging a hydrogen atom ...
    cd03679
    Location:40574
    Blast Score: 3059
    MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    49126994..49159962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    49401109..49434080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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