Gene/Proteome Database (LMPD)
LMPD ID
LMP000403
Gene ID
Species
Homo sapiens (Human)
Gene Name
propionyl CoA carboxylase, alpha polypeptide
Gene Symbol
Synonyms
-
Alternate Names
propionyl-CoA carboxylase alpha chain, mitochondrial; PCCase alpha subunit; pccA complementation group; propanoyl-CoA:carbon dioxide ligase alpha subunit; propionyl Coenzyme A carboxylase, alpha polypeptide
Chromosome
13
Map Location
13q32
EC Number
6.4.1.3
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]
Orthologs
Proteins
| propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor | |
|---|---|
| Refseq ID | NP_000273 |
| Protein GI | 65506442 |
| UniProt ID | P05165 |
| mRNA ID | NM_000282 |
| Length | 728 |
| RefSeq Status | REVIEWED |
| MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE | |
| propionyl-CoA carboxylase alpha chain, mitochondrial isoform b | |
|---|---|
| Refseq ID | NP_001121164 |
| Protein GI | 65506442 |
| UniProt ID | P05165 |
| mRNA ID | NM_001127692 |
| Length | 728 |
| RefSeq Status | REVIEWED |
| MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE | |
| propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor | |
|---|---|
| Refseq ID | NP_001171475 |
| Protein GI | 65506442 |
| UniProt ID | P05165 |
| mRNA ID | NM_001178004 |
| Length | 728 |
| RefSeq Status | REVIEWED |
| MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE | |
| transit_peptide: 1..45 calculated_mol_wt: 5072 peptide sequence: MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCL mat_peptide: 46..728 product: propionyl-CoA carboxylase alpha chain, mitochondrial isoform a calculated_mol_wt: 75005 peptide sequence: MVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE transit_peptide: 1..45 calculated_mol_wt: 5072 peptide sequence: MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCL mat_peptide: 46..681 product: propionyl-CoA carboxylase alpha chain, mitochondrial isoform c calculated_mol_wt: 69948 peptide sequence: MVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE | |
Gene Information
Entrez Gene ID
Gene Name
propionyl CoA carboxylase, alpha polypeptide
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005829 | TAS:Reactome | C | cytosol |
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0005524 | IEA:UniProtKB-KW | F | ATP binding |
| GO:0009374 | TAS:ProtInc | F | biotin binding |
| GO:0004075 | IEA:InterPro | F | biotin carboxylase activity |
| GO:0019899 | IPI:UniProtKB | F | enzyme binding |
| GO:0046872 | IEA:InterPro | F | metal ion binding |
| GO:0004658 | TAS:ProtInc | F | propionyl-CoA carboxylase activity |
| GO:0006768 | TAS:Reactome | P | biotin metabolic process |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0006635 | TAS:Reactome | P | fatty acid beta-oxidation |
| GO:0019626 | TAS:Reactome | P | short-chain fatty acid catabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006766 | TAS:Reactome | P | vitamin metabolic process |
| GO:0006767 | TAS:Reactome | P | water-soluble vitamin metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa01200 | Carbon metabolism |
| hsa00630 | Glyoxylate and dicarboxylate metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_11153 | Biotin transport and metabolism |
| REACT_993 | Propionyl-CoA catabolism |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR011761 | ATP-grasp fold |
| IPR013815 | ATP-grasp fold, subdomain 1 |
| IPR013816 | ATP-grasp fold, subdomain 2 |
| IPR005482 | Biotin carboxylase, C-terminal |
| IPR011764 | Biotin carboxylation domain |
| IPR001882 | Biotin-binding site |
| IPR000089 | Biotin/lipoyl attachment |
| IPR005481 | Carbamoyl-phosphate synthase, large subunit, N-terminal |
| IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain |
| IPR016185 | Pre-ATP-grasp domain |
| IPR011054 | Rudiment single hybrid motif |
| IPR011053 | Single hybrid motif |
UniProt Annotations
Entry Information
Gene Name
propionyl CoA carboxylase, alpha polypeptide
Protein Entry
PCCA_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P05165-1; Sequence=Displayed; Name=2; IsoId=P05165-2; Sequence=VSP_039857; Name=3; IsoId=P05165-3; Sequence=VSP_044458; |
| Catalytic Activity | ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA. |
| Cofactor | Name=biotin; Xref=ChEBI |
| Disease | Propionic acidemia type I (PA-1) [MIM |
| Pathway | Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA |
| Sequence Caution | Sequence=AAA60035.1; Type=Frameshift; Positions=374, 378, 380, 395; Evidence= ; Sequence=AAH00140.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAK61392.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=CAA32763.1; Type=Frameshift; Positions=23; Evidence= ; |
| Similarity | Contains 1 ATP-grasp domain. {ECO |
| Similarity | Contains 1 biotin carboxylation domain. |
| Similarity | Contains 1 biotinyl-binding domain. |
| Subcellular Location | Mitochondrion matrix . |
| Subunit | Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000403 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 65506442 | RefSeq | NP_000273 | 728 | propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor |
| 65506442 | RefSeq | NP_001121164 | 728 | propionyl-CoA carboxylase alpha chain, mitochondrial isoform b |
| 65506442 | RefSeq | NP_001171475 | 728 | propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor |
Identical Sequences to LMP000403 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:65506442 | GenBank | AGX52957.1 | 728 | Sequence 6265 from patent US 8541208 |
| GI:65506442 | GenBank | AGX52957.1 | 728 | Sequence 6265 from patent US 8541208 |
| GI:65506442 | GenBank | AGX52957.1 | 728 | Sequence 6265 from patent US 8541208 |
| GI:65506442 | GenBank | AGX53893.1 | 728 | Sequence 8136 from patent US 8541208 |
| GI:65506442 | GenBank | AGX53893.1 | 728 | Sequence 8136 from patent US 8541208 |
| GI:65506442 | GenBank | AGX53893.1 | 728 | Sequence 8136 from patent US 8541208 |
| GI:65506442 | GenBank | AGX56160.1 | 728 | Sequence 12646 from patent US 8541208 |
| GI:65506442 | GenBank | AGX56160.1 | 728 | Sequence 12646 from patent US 8541208 |
| GI:65506442 | GenBank | AGX56160.1 | 728 | Sequence 12646 from patent US 8541208 |
| GI:65506442 | GenBank | AGX60575.1 | 728 | Sequence 21381 from patent US 8541208 |
| GI:65506442 | GenBank | AGX60575.1 | 728 | Sequence 21381 from patent US 8541208 |
| GI:65506442 | GenBank | AGX60575.1 | 728 | Sequence 21381 from patent US 8541208 |
| GI:65506442 | GenBank | AGX77208.1 | 728 | Sequence 54190 from patent US 8541208 |
| GI:65506442 | GenBank | AGX77208.1 | 728 | Sequence 54190 from patent US 8541208 |
| GI:65506442 | GenBank | AGX77208.1 | 728 | Sequence 54190 from patent US 8541208 |
| GI:65506442 | GenBank | AHD71782.1 | 728 | Sequence 6476 from patent US 8586006 |
| GI:65506442 | GenBank | AHD71782.1 | 728 | Sequence 6476 from patent US 8586006 |
| GI:65506442 | GenBank | AHD71782.1 | 728 | Sequence 6476 from patent US 8586006 |
Related Sequences to LMP000403 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:65506442 | GenBank | JAA17874.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | GenBank | JAA17874.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | GenBank | JAA17874.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | GenBank | JAA28431.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | GenBank | JAA28431.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | GenBank | JAA28431.1 | 728 | propionyl CoA carboxylase, alpha polypeptide [Pan troglodytes] |
| GI:65506442 | RefSeq | XP_001149000.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan troglodytes] |
| GI:65506442 | RefSeq | XP_001149000.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan troglodytes] |
| GI:65506442 | RefSeq | XP_001149000.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan troglodytes] |
| GI:65506442 | RefSeq | XP_003832099.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan paniscus] |
| GI:65506442 | RefSeq | XP_003832099.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan paniscus] |
| GI:65506442 | RefSeq | XP_003832099.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial [Pan paniscus] |
| GI:65506442 | RefSeq | XP_004054742.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 1 [Gorilla gorilla gorilla] |
| GI:65506442 | RefSeq | XP_004054742.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 1 [Gorilla gorilla gorilla] |
| GI:65506442 | RefSeq | XP_004054742.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 1 [Gorilla gorilla gorilla] |
| GI:65506442 | RefSeq | XP_004054743.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 2 [Gorilla gorilla gorilla] |
| GI:65506442 | RefSeq | XP_004054743.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 2 [Gorilla gorilla gorilla] |
| GI:65506442 | RefSeq | XP_004054743.1 | 728 | PREDICTED: propionyl-CoA carboxylase alpha chain, mitochondrial isoform 2 [Gorilla gorilla gorilla] |