Gene Gene information from NCBI Gene database.
Entrez ID 9489
Gene name Phosphatidylglycerophosphate synthase 1
Gene symbol PGS1
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q25.3
miRNA miRNA information provided by mirtarbase database.
125
miRTarBase ID miRNA Experiments Reference
MIRT016033 hsa-miR-374b-5p Sequencing 20371350
MIRT1228715 hsa-miR-1184 CLIP-seq
MIRT1228716 hsa-miR-1205 CLIP-seq
MIRT1228717 hsa-miR-122 CLIP-seq
MIRT1228718 hsa-miR-1224-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005509 Function Calcium ion binding ISS
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614942 30029 ENSG00000087157
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q32NB8
Protein name CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (EC 2.7.8.5) (Phosphatidylglycerophosphate synthase 1) (PGP synthase 1)
Protein function Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.
Family and domains
Sequence
MAVAAAAAAGPVFWRRLLGLLPGRPGLAALLGRLSDRLGRNRDRQRRRSPWLLLAPLLSP
AVPQVTSPPCCLCPEGVHRFQWIRNLVPEFGVSSSHVRVLSSPAEFFELMKGQIRVAKRR
VVMASLYLGTGPLEQELVDCLESTLEKSLQAKFPSNLKVSILLDFTRGSRGRKNSRTMLL
PLLRRFPEQVRVSLFHTPHLRGLLRLLIPERFNETIGLQHIKVYLFDNSVILSGANLSDS
YFTNRQDRYVFLQDCAEIADFFTELVDAVGDVSLQLQGDDTVQVVDGMVHPYKGDRAEYC
KAANKRVMDVINSARTRQQMLHAQTFHSNSLLTQEDAAAAGDRRPAPDTWIYPLIQMKPF
EIQIDEIVTETLLTEAERGAKVYLTTGYFNLTQAYMDLVLGTRAEYQILLASPEVNGFFG
AKGVAGAIPAAYVHIERQFFSEVCSLGQQERVQLQEYWRRGWTFHAKGLWLYLAGSSLPC
LTLIGSPNFGYRSVHRDLEAQIAIVTENQALQQQLHQEQEQLYLRSGVVSSATFEQPSRQ
VKLWVKMVTPLIKNFF
Sequence length 556
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycerophospholipid metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
High myopia Uncertain significance rs372229822 RCV000785710
Lung cancer Likely benign rs201673197 RCV005939389
Malignant tumor of esophagus Likely benign rs201673197 RCV005939388
PGS1-related disorder Likely benign rs72914863 RCV003903842
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 38291374
Mucocutaneous Lymph Node Syndrome Associate 36042431
Myopathy with Giant Abnormal Mitochondria Associate 38291374
Optic Atrophy Autosomal Dominant Associate 34014035
Papillary Thyroid Microcarcinoma Associate 34731936
Shock Septic Associate 39609718
Sleep Deprivation Associate 34014035