Version 5.4
| Bos taurus Gene: MCCC1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-635652.3 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | MCCC1 | ||||||||||||||||||
| Gene Name | methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Bos taurus | ||||||||||||||||||
| Ensembl Gene | ENSBTAG00000006548 | ||||||||||||||||||
| Encoded Proteins |
methylcrotonoyl-CoA carboxylase 1 (alpha)
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000078070:
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 1:84574883-84633174 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | |||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Branched-chain amino acid catabolism pathway
Biotin transport and metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Metabolism of amino acids and derivatives pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Metabolism pathway
Metabolism of amino acids and derivatives pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Biotin transport and metabolism pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Branched-chain amino acid catabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
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| KEGG |
Valine, leucine and isoleucine degradation pathway
Valine, leucine and isoleucine degradation pathway
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| INOH |
Valine Leucine Isoleucine degradation pathway
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| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | E1BGC1 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 513504 | ||||||||||||||||||
| UniGene | Bt.12661 | ||||||||||||||||||
| RefSeq | NM_001205758 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | |||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | DAAA02001892 DAAA02001893 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 513504 | ||||||||||||||||||