• Gene id: 5096

Gene Summary

• Gene Symbol: PCCB   Gene   UCSC   Ensembl
• Gene name: propionyl-CoA carboxylase subunit beta
• Alternate names: propionyl-CoA carboxylase beta chain, mitochondrial, PCCase subunit beta, propanoyl-CoA:carbon dioxide ligase subunit beta, propionyl CoA carboxylase, beta polypeptide, propionyl Coenzyme A carboxylase, beta polypeptide, propionyl-CoA carboxylase beta subunit,
• Gene location: 3q22.3 (136250324: 136330170)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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.
• OMIM: 232050

Protein Summary

• Protein general information: P05166  
  • Name: Propionyl CoA carboxylase beta chain, mitochondrial (PCCase subunit beta) (EC 6.4.1.3) (Propanoyl CoA:carbon dioxide ligase subunit beta)
  • Length: 539  
  • Mass: 58216
• Sequence:

  MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLD
  PGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAIT
  VGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFI
  TGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVP
  ELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGA
  RFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGD
  TNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASK
  KVQRPWRKHANIPL

• Structural information:
  • Protein Domains: (32..29-)
    N-terminal (/note="CoA-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01136-)
    (294..53-)
    C-terminal (/note="CoA-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01137"-)
  • Interpro: IPR034733  IPR029045  IPR011763  IPR011762  
  • Prosite: PS50989 PS50980
  • DIP: 38244
  • STRING: ENSP00000419027
• Other Databases: GeneCards:  PCCB  Malacards:  PCCB

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
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:0005759	mitochondrial matrix	IEA	cellular component

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:8411997
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)