Homo sapiens Gene: PCCB | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-57834.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PCCB | ||||||||||||||||||
Gene Name | propionyl CoA carboxylase, beta polypeptide | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000114054 | ||||||||||||||||||
Encoded Proteins |
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
propionyl CoA carboxylase, beta polypeptide
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 3:136250306-136337896 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q22.3 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
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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 | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Propionyl-CoA catabolism pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Biotin transport and metabolism pathway
Metabolism of lipids and lipoproteins 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
Mitochondrial Fatty Acid Beta-Oxidation 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
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
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KEGG |
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
Glyoxylate and dicarboxylate metabolism pathway
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INOH |
Propanoate metabolism pathway
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PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.63788 Hs.736024 | ||||||||||||||||||
RefSeq | NM_000532 NM_001178014 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS3089 CCDS54643 | ||||||||||||||||||
HPRD | 01982 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||