Version 5.4
Homo sapiens Gene: MCCC1
Summary
InnateDB Gene IDBG-66828.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCCC1
Gene Name methylcrotonoyl-CoA carboxylase 1 (alpha)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000078070
Encoded Proteins
IDBP-66830
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-479561
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-473814
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-484795
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-476400
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-481133
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-475826
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-485499
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-476950
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-474054
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-591689
methylcrotonoyl-CoA carboxylase 1 (alpha)
IDBP-811564
methylcrotonoyl-CoA carboxylase 1 (alpha)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:183015218-183116075
Strand Reverse strand
Band q27.1
Transcripts
ENST00000265594 ENSP00000265594
ENST00000492597 ENSP00000419898
ENST00000497830 ENSP00000420088
ENST00000497959 ENSP00000420648
ENST00000464601
ENST00000495767 ENSP00000419658
ENST00000476176 ENSP00000420433
ENST00000489909
ENST00000490284 ENSP00000419328
ENST00000487634 ENSP00000420591
ENST00000466650 ENSP00000418979
ENST00000486226 ENSP00000420223
ENST00000473955
ENST00000539926 ENSP00000441253
ENST00000610757 ENSP00000480435
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 11 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004075 biotin carboxylase activity
GO:0004485 methylcrotonoyl-CoA carboxylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008716 D-alanine-D-alanine ligase activity
GO:0009374 biotin binding
GO:0016874 ligase activity
GO:0046872 metal ion binding
Biological Process
GO:0006552 leucine catabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006768 biotin metabolic process
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027709
View Gene Order
ENSBTAG00000006548
Not yet available
Pathways
NETPATH
REACTOME
REACT_197
Branched-chain amino acid catabolism pathway
REACT_11153
Biotin transport and metabolism pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
KEGG
hsa00280
Valine, leucine and isoleucine degradation pathway
INOH
INOH website
Valine Leucine Isoleucine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 56922
UniGene Hs.47649
RefSeq NM_001293273 NM_020166 XM_006713702
HUGO HGNC:6936
OMIM 609010
CCDS CCDS3241
HPRD 01951
IMGT
EMBL
GenPept
RNA Seq Atlas 56922

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca