• Gene id: 9489

Gene Summary

• Gene Symbol: PGS1   Gene   UCSC   Ensembl
• Gene name: phosphatidylglycerophosphate synthase 1
• Alternate names: CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial, PGP synthase 1,
• Gene location: 17q25.3 (78378622: 78424658)     Exons: 12     NC_000017.11
• OMIM: 600225

Protein Summary

• Protein general information: Q32NB8  
  • Name: CDP diacylglycerol glycerol 3 phosphate 3 phosphatidyltransferase, mitochondrial (EC 2.7.8.5) (Phosphatidylglycerophosphate synthase 1) (PGP synthase 1)
  • Length: 556  
  • Mass: 62730
• Sequence:

  MAVAAAAAAGPVFWRRLLGLLPGRPGLAALLGRLSDRLGRNRDRQRRRSPWLLLAPLLSPAVPQVTSPPCCLCPE
  GVHRFQWIRNLVPEFGVSSSHVRVLSSPAEFFELMKGQIRVAKRRVVMASLYLGTGPLEQELVDCLESTLEKSLQ
  AKFPSNLKVSILLDFTRGSRGRKNSRTMLLPLLRRFPEQVRVSLFHTPHLRGLLRLLIPERFNETIGLQHIKVYL
  FDNSVILSGANLSDSYFTNRQDRYVFLQDCAEIADFFTELVDAVGDVSLQLQGDDTVQVVDGMVHPYKGDRAEYC
  KAANKRVMDVINSARTRQQMLHAQTFHSNSLLTQEDAAAAGDRRPAPDTWIYPLIQMKPFEIQIDEIVTETLLTE
  AERGAKVYLTTGYFNLTQAYMDLVLGTRAEYQILLASPEVNGFFGAKGVAGAIPAAYVHIERQFFSEVCSLGQQE
  RVQLQEYWRRGWTFHAKGLWLYLAGSSLPCLTLIGSPNFGYRSVHRDLEAQIAIVTENQALQQQLHQEQEQLYLR
  SGVVSSATFEQPSRQVKLWVKMVTPLIKNFF

• Structural information:
  • Protein Domains: (215..24-)
    1 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153-)
    (460..49-)
    2 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153"-)
  • Interpro: IPR016270  IPR001736  
  • Prosite: PS50035
  • STRING: ENSP00000262764
• Other Databases: GeneCards:  PGS1  Malacards:  PGS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0032049	cardiolipin biosynthetic process	IBA	biological process
GO:0008444	CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	IBA	molecular function
GO:0008444	CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	IEA	molecular function
GO:0032049	cardiolipin biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0008444	CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005509	calcium ion binding	ISS	molecular function
GO:0008444	CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	ISS	molecular function
GO:0032049	cardiolipin biosynthetic process	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006655	phosphatidylglycerol biosynthetic process	ISS	biological process
GO:0046339	diacylglycerol metabolic process	ISS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006655	phosphatidylglycerol biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq