InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PCCA

Summary

InnateDB Gene

IDBG-46949.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCCA

Gene Name

propionyl CoA carboxylase, alpha polypeptide

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000175198

Encoded Proteins

IDBP-46951

propionyl CoA carboxylase, alpha polypeptide

IDBP-46953

propionyl CoA carboxylase, alpha polypeptide

IDBP-46957

propionyl CoA carboxylase, alpha polypeptide

IDBP-372942

propionyl CoA carboxylase, alpha polypeptide

IDBP-372944

propionyl CoA carboxylase, alpha polypeptide

IDBP-372947

propionyl CoA carboxylase, alpha polypeptide

IDBP-372949

propionyl CoA carboxylase, alpha polypeptide

IDBP-372954

propionyl CoA carboxylase, alpha polypeptide

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:100089015-100530435

Strand

Forward strand

Band

q32.3

Transcripts

ENST00000376286	ENSP00000365463
ENST00000376285	ENSP00000365462
ENST00000376279	ENSP00000365456
ENST00000424527	ENSP00000396050
ENST00000443601	ENSP00000400740
ENST00000458283	ENSP00000390850
ENST00000413170	ENSP00000411194
ENST00000428969	ENSP00000399413
ENST00000485946
ENST00000621936

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
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:0004658	propionyl-CoA carboxylase activity
GO:0005524	ATP binding
GO:0008716	D-alanine-D-alanine ligase activity
GO:0009374	biotin binding
GO:0016874	ligase activity
GO:0019899	enzyme binding
GO:0046872	metal ion binding

Biological Process

GO:0006635	fatty acid beta-oxidation
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006768	biotin metabolic process
GO:0008152	metabolic process
GO:0019626	short-chain fatty acid catabolic process
GO:0019836	hemolysis by symbiont of host erythrocytes
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005829	cytosol

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000041650

View Gene Order

ENSBTAG00000010672

Not yet available

Pathways

NETPATH

REACTOME

REACT_993

Propionyl-CoA catabolism pathway

REACT_22279

Fatty acid, triacylglycerol, and ketone body metabolism pathway

REACT_11153

Biotin transport and metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins 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_1473

Mitochondrial Fatty Acid Beta-Oxidation 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_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

hsa00640

Propanoate metabolism pathway

hsa00630

Glyoxylate and dicarboxylate metabolism pathway

INOH

INOH website

Propanoate metabolism pathway

PID NCI

Cross-References

SwissProt

P05165

TrEMBL

Q5JTW6 Q5JVH2

UniProt Splice Variant

Entrez Gene

5095

UniGene

RefSeq

NM_000282 NM_001127692 NM_001178004 XM_005254059

HUGO

HGNC:8653

OMIM

232000

CCDS

CCDS45065 CCDS53878 CCDS9496

HPRD

IMGT

EMBL

AF385926 AK296771 AK298318 AL136526 AL353697 AL355338 AL356575 AY035786 AY035787 AY035788 AY035789 AY035790 AY035791 AY035792 AY035793 AY035794 AY035795 AY035796 AY035797 AY035798 AY035799 AY035800 AY035801 AY035802 AY035803 AY035804 AY035805 AY035806 AY035807 AY035808 BC000140 CH471085 M13572 M26121 S55656 X14608

GenPept

AAA36424 AAA60035 AAB25345 AAH00140 AAK61392 AAL66189 BAG59350 BAG60571 CAA32763 CAH70370 CAH72681 CAI39557 CAI40434 EAX09034

RNA Seq Atlas

5095