• Gene id: 56922

Gene Summary

• Gene Symbol: MCCC1   Gene   UCSC   Ensembl
• Aliases: MCC-B, MCCA
• Gene name: methylcrotonoyl-CoA carboxylase 1
• Alternate names: methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, 3-methylcrotonyl-CoA carboxylase 1, 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha, MCCase subunit alpha, methylcrotonoyl-CoA ca,
• Gene location: 3q27.1 (33070140: 33072412)     Exons: 1     NC_000021.9
• Gene summary(Entrez): This gene encodes the large 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: 609010

Protein Summary

• Protein general information: Q96RQ3  
  • Name: Methylcrotonoyl CoA carboxylase subunit alpha, mitochondrial (MCCase subunit alpha) (EC 6.4.1.4) (3 methylcrotonyl CoA carboxylase 1) (3 methylcrotonyl CoA carboxylase biotin containing subunit) (3 methylcrotonyl CoA:carbon dioxide ligase subunit alpha)
  • Length: 725  
  • Mass: 80473
• Sequence:

  MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEIACRVMRTAKKLGVQT
  VAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFI
  GPPPSAIRDMGIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQ
  EQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
  KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEI
  TLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTK
  LRYSLRQYNIVGLHTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDT
  FTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
  SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLM
  VMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE

• Structural information:
  • Protein Domains: (48..49-)
    (/note="Biotin-carboxylation)
    (167..36-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (643..71-)
    (/note="Biotinyl-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066"-)
  • Interpro: IPR011761  IPR013815  IPR005481  IPR001882  IPR011764   IPR005482  IPR000089  IPR005479  IPR016185  IPR011054  IPR011053  
  • Prosite: PS50975 PS50979 PS00188 PS50968 PS00867
  • PDB: 2EJM
  • PDBsum: 2EJM
  • STRING: ENSP00000265594
• Other Databases: GeneCards:  MCCC1  Malacards:  MCCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006552	leucine catabolic process	ISS	biological process
GO:0006768	biotin metabolic process	NAS	biological process
GO:0004075	biotin carboxylase activity	NAS	molecular function
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:0004485	methylcrotonoyl-CoA carboxylase activity	NAS	contributes to
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:0002169	3-methylcrotonyl-CoA carboxylase complex, mitochondrial	NAS	cellular component
GO:0016421	CoA carboxylase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0004485	methylcrotonoyl-CoA carboxylase activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	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:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006552	leucine catabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0009374	biotin binding	NAS	molecular function
GO:0006768	biotin metabolic process	NAS	biological process
GO:0006552	leucine catabolic process	NAS	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq