• Gene id: 64087

Gene Summary

• Gene Symbol: MCCC2   Gene   UCSC   Ensembl
• Aliases: MCCB
• Gene name: methylcrotonoyl-CoA carboxylase 2
• Alternate names: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial, 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, meth,
• Gene location: 5q13.2 (71587339: 71658705)     Exons: 19     NC_000005.10
• Gene summary(Entrez): 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-Methylcrot
• OMIM: 609014

Protein Summary

• Protein general information: Q9HCC0  
  • Name: Methylcrotonoyl CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) (EC 6.4.1.4) (3 methylcrotonyl CoA carboxylase 2) (3 methylcrotonyl CoA carboxylase non biotin containing subunit) (3 methylcrotonyl CoA:carbon dioxide ligase subunit beta)
  • Length: 563  
  • Mass: 61333
• Sequence:

  MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALH
  ISRGKLLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTV
  KKQLRAQEIAMQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPA
  MADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKL
  DVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGV
  LFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNY
  GMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSAR
  VWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM

• Structural information:
  • Protein Domains: (49..30-)
    N-terminal (/note="CoA-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01136-)
    (309..55-)
    C-terminal (/note="CoA-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01137"-)
  • Interpro: IPR034733  IPR029045  IPR011763  IPR011762  
  • Prosite: PS50989 PS50980
  • STRING: ENSP00000343657
• Other Databases: GeneCards:  MCCC2  Malacards:  MCCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905202	methylcrotonoyl-CoA carboxylase complex	IDA	cellular component
GO:0004485	methylcrotonoyl-CoA carboxylase activity	NAS	contributes to
GO:0004485	methylcrotonoyl-CoA carboxylase activity	NAS	contributes to
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0002169	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	NAS	cellular component
GO:0002169	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	TAS	cellular component
GO:0002169	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	NAS	cellular component
GO:1905202	methylcrotonoyl-CoA carboxylase complex	IBA	cellular component
GO:0006552	leucine catabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004485	methylcrotonoyl-CoA carboxylase activity	IBA	contributes to
GO:0004485	methylcrotonoyl-CoA carboxylase activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004485	methylcrotonoyl-CoA carboxylase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006768	biotin metabolic process	TAS	biological process
GO:0004485	methylcrotonoyl-CoA carboxylase activity	IEA	molecular function
GO:0015936	coenzyme A metabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006552	leucine catabolic process	IEA	biological process
GO:0005739	mitochondrion	NAS	cellular component
GO:0006552	leucine catabolic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation

Diseases

Associated diseases	References
3-Methylcrotonylglycinuria	KEGG:H00181
3-Methylcrotonylglycinuria	KEGG:H00181
mitochondrial metabolism disease	PMID:11170888
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R