• Gene id: 29968

Gene Summary

• Gene Symbol: PSAT1   Gene   UCSC   Ensembl
• Aliases: EPIP, NLS2, PSA, PSAT, PSATD
• Gene name: phosphoserine aminotransferase 1
• Alternate names: phosphoserine aminotransferase, endometrial progesterone-induced protein, phosphohydroxythreonine aminotransferase,
• Gene location: 9q21.2 (78297074: 78330092)     Exons: 9     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associa
• OMIM: 610936

Protein Summary

• Protein general information: Q9Y617  
  • Name: Phosphoserine aminotransferase (EC 2.6.1.52) (Phosphohydroxythreonine aminotransferase) (PSAT)
  • Length: 370  
  • Mass: 40,423
• Sequence:

  MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFL
  QGGGCGQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVY
  YCANETVHGVEFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECP
  SVLEYKVQAGNSSLYNTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVCPVEPQNRSK
  MNIPFRIGNAKGDDALEKRFLDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL

• Structural information:
  • Interpro: IPR000192  IPR020578  IPR022278  IPR015424  IPR015422   IPR015421  
  • Prosite: PS00595
  • CDD: cd00611
  • PDB: 2999 9999 9999 9999 8197 9279 4635 9183 5365 9075 4619 5412 7468 7248 4301 4103 9109 0779 9142 40
  • PDBsum: 2999 9999 9999 9999 8197 9279 4635 9183 5365 9075 4619 5412 7468 7248 4301 4103 9109 0779 9142 40
  • STRING: ENSP00000365773
• Other Databases: GeneCards:  PSAT1  Malacards:  PSAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IBA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	NAS	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006564	L-serine biosynthetic process	NAS	biological process
GO:0006564	L-serine biosynthetic process	TAS	biological process
GO:0008615	pyridoxine biosynthetic process	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IEA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IEA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IBA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	NAS	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006564	L-serine biosynthetic process	IEA	biological process
GO:0006564	L-serine biosynthetic process	IEA	biological process
GO:0006564	L-serine biosynthetic process	NAS	biological process
GO:0006564	L-serine biosynthetic process	TAS	biological process
GO:0008483	transaminase activity	IEA	molecular function
GO:0008615	pyridoxine biosynthetic process	NAS	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IBA	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	NAS	molecular function
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006564	L-serine biosynthetic process	NAS	biological process
GO:0006564	L-serine biosynthetic process	TAS	biological process
GO:0008615	pyridoxine biosynthetic process	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids

Diseases

Associated diseases	References
Von willebrand disease	GAD: 21810271
Polycystic ovary syndrome (PCOS)	INFBASE: 24279306
Male factor infertility	MIK: 25908656
Phosphoserine aminotransferase deficiency	KEGG: H01082
Neu-Laxova syndrome	OMIM: 610936
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 25908655
Male infertility	MIK: 25908656

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25908656	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
25908655	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881