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MCCC2 methylcrotonoyl-CoA carboxylase 2 [ Homo sapiens (human) ]

Gene ID: 64087, updated on 8-May-2016
Official Symbol
MCCC2provided by HGNC
Official Full Name
methylcrotonoyl-CoA carboxylase 2provided by HGNC
Primary source
HGNC:HGNC:6937
See related
Ensembl:ENSG00000131844 HPRD:01952; MIM:609014; Vega:OTTHUMG00000162505
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
MCCB
Summary
This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Orthologs
Location:
5q12-q13
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (71587288..71658706)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70883115..70954533)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724392 Neighboring gene pro-melanin concentrating hormone like 2 (pseudogene) Neighboring gene sterol carrier protein 2 pseudogene Neighboring gene B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Neighboring gene uncharacterized LOC105379027 Neighboring gene catenin beta 1 pseudogene Neighboring gene CART prepropeptide

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
methylcrotonoyl-CoA carboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
methylcrotonoyl-CoA carboxylase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biotin metabolic process TAS
Traceable Author Statement
more info
 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
coenzyme A metabolic process IEA
Inferred from Electronic Annotation
more info
 
leucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
leucine catabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Names
3-methylcrotonyl-CoA carboxylase 2
3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
MCCase subunit beta
biotin carboxylase
methylcrotonoyl-CoA carboxylase 2 (beta)
methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase
testicular secretory protein Li 29
NP_071415.1

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_008882.1 RefSeqGene

    Range
    5001..76417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022132.4NP_071415.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

    See identical proteins and their annotated locations for NP_071415.1

    Status: REVIEWED

    Source sequence(s)
    AB050049, AC138832, AC143336, AK025591, CN309723
    Consensus CDS
    CCDS34184.1
    UniProtKB/Swiss-Prot
    Q9HCC0
    Related
    ENSP00000343657, OTTHUMP00000222178, ENST00000340941, OTTHUMT00000369243
    Conserved Domains (2) summary
    PLN02820
    Location:36563
    PLN02820; 3-methylcrotonyl-CoA carboxylase, beta chain
    cl21466
    Location:344482
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    71587288..71658706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248567.1XP_005248624.1  

    UniProtKB/Swiss-Prot
    Q9HCC0
    Conserved Domains (2) summary
    PLN02820
    Location:36525
    PLN02820; 3-methylcrotonyl-CoA carboxylase, beta chain
    cl21466
    Location:306444
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
  2. XM_011543528.1XP_011541830.1  

    Related
    ENSP00000420994, OTTHUMP00000222180, ENST00000509358, OTTHUMT00000369245
    Conserved Domains (1) summary
    cl21466
    Location:84255
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
  3. XM_011543529.1XP_011541831.1  

    Conserved Domains (1) summary
    cl21466
    Location:84255
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    1585773..1610592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    1117263..1142082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    70315816..70387189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)