• Gene id: 5095

Gene Summary

• Gene Symbol: PCCA   Gene   UCSC   Ensembl
• Gene name: propionyl-CoA carboxylase subunit alpha
• Alternate names: propionyl-CoA carboxylase alpha chain, mitochondrial, PCCase alpha subunit, pccA complementation group, propanoyl-CoA:carbon dioxide ligase alpha subunit, propionyl CoA carboxylase, alpha polypeptide, propionyl Coenzyme A carboxylase, alpha polypeptide, propion,
• Gene location: 13q32.3 (100089014: 100530436)     Exons: 32     NC_000013.11
• Gene summary(Entrez): 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 enzym
• OMIM: 232000

Protein Summary

• Protein general information: P05165  
  • Name: Propionyl CoA carboxylase alpha chain, mitochondrial (PCCase subunit alpha) (EC 6.4.1.3) (Propanoyl CoA:carbon dioxide ligase subunit alpha)
  • Length: 728  
  • Mass: 80059
• Sequence:

  MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIA
  CRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENK
  EFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGG
  GKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVV
  EEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIR
  VAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMIS
  KLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQL
  LAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLAS
  PLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSV
  KPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE

• Structural information:
  • Protein Domains: (62..50-)
    (/note="Biotin-carboxylation)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00969-)
    (181..37-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (653..72-)
    (/note="Biotinyl-binding-)
    (/evidence="ECO:0000255|P-)
  • Interpro: IPR011761  IPR005481  IPR001882  IPR011764  IPR005482   IPR000089  IPR005479  IPR041265  IPR016185  IPR011054  IPR011053  
  • Prosite: PS50975 PS50979 PS00188 PS50968 PS00866 PS00867
  • PDB: 2CQY 2JKU
  • PDBsum: 2CQY 2JKU
  • DIP: 57493
  • STRING: ENSP00000365462
• Other Databases: GeneCards:  PCCA  Malacards:  PCCA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004658	propionyl-CoA carboxylase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0016421	CoA carboxylase activity	IBA	molecular function
GO:0019626	short-chain fatty acid catabolic process	IC	biological process
GO:0019626	short-chain fatty acid catabolic process	IC	biological process
GO:0004658	propionyl-CoA carboxylase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0004658	propionyl-CoA carboxylase activity	IMP	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0009374	biotin binding	TAS	molecular function
GO:0004658	propionyl-CoA carboxylase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006768	biotin metabolic process	TAS	biological process
GO:0019626	short-chain fatty acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004658	propionyl-CoA carboxylase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Propionic acidemia	KEGG:H00175
Secondary hyperammonemia	KEGG:H01400
Propionic acidemia	KEGG:H00175
Amino acid metabolic disorder	PMID:9385377
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq