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Protein

Phosphoserine aminotransferase

Gene

PSAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.By similarity

Catalytic activityi

O-phospho-L-serine + 2-oxoglutarate = 3-phosphonooxypyruvate + L-glutamate.
4-phosphonooxy-L-threonine + 2-oxoglutarate = (3R)-3-hydroxy-2-oxo-4-phosphonooxybutanoate + L-glutamate.

Cofactori

pyridoxal 5'-phosphateBy similarityNote: Binds 1 pyridoxal phosphate per subunit.By similarity

Kineticsi

  1. KM=5 µM for phosphoserine1 Publication
  1. Vmax=1.35 µmol/min/mg enzyme1 Publication

Pathwayi: L-serine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes L-serine from 3-phospho-D-glycerate.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. D-3-phosphoglycerate dehydrogenase (PHGDH), D-3-phosphoglycerate dehydrogenase (HEL-S-113), D-3-phosphoglycerate dehydrogenase (PHGDH)
  2. Phosphoserine aminotransferase, Phosphoserine aminotransferase (PSAT1), Phosphoserine aminotransferase (PSAT1)
  3. Phosphoserine phosphatase (PSPH)
This subpathway is part of the pathway L-serine biosynthesis, which is itself part of Amino-acid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-serine from 3-phospho-D-glycerate, the pathway L-serine biosynthesis and in Amino-acid biosynthesis.

Pathwayi: pyridoxine 5'-phosphate biosynthesis

This protein is involved in step 3 of the subpathway that synthesizes pyridoxine 5'-phosphate from D-erythrose 4-phosphate.
Proteins known to be involved in the 5 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. no protein annotated in this organism
  3. Phosphoserine aminotransferase (PSAT1)
  4. no protein annotated in this organism
  5. no protein annotated in this organism
This subpathway is part of the pathway pyridoxine 5'-phosphate biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes pyridoxine 5'-phosphate from D-erythrose 4-phosphate, the pathway pyridoxine 5'-phosphate biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei45L-glutamateBy similarity1
Binding sitei107Pyridoxal phosphateBy similarity1
Binding sitei156Pyridoxal phosphateBy similarity1
Binding sitei176Pyridoxal phosphateBy similarity1
Binding sitei199Pyridoxal phosphateBy similarity1

GO - Molecular functioni

  • O-phospho-L-serine:2-oxoglutarate aminotransferase activity Source: UniProtKB

GO - Biological processi

  • L-serine biosynthetic process Source: UniProtKB
  • pyridoxine biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Keywords - Biological processi

Amino-acid biosynthesis, Serine biosynthesis

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS05946-MONOMER.
ZFISH:HS05946-MONOMER.
BRENDAi2.6.1.52. 2681.
ReactomeiR-HSA-977347. Serine biosynthesis.
UniPathwayiUPA00135; UER00197.
UPA00244; UER00311.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphoserine aminotransferase (EC:2.6.1.52)
Alternative name(s):
Phosphohydroxythreonine aminotransferase
Short name:
PSAT
Gene namesi
Name:PSAT1
Synonyms:PSA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19129. PSAT1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Phosphoserine aminotransferase deficiency (PSATD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.
See also OMIM:610992
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037252100D → A in PSATD; reduced Vmax. 1 PublicationCorresponds to variant rs118203967dbSNPEnsembl.1
Neu-Laxova syndrome 2 (NLS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.
See also OMIM:616038
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07257199A → V in NLS2. 1 PublicationCorresponds to variant rs587777778dbSNPEnsembl.1
Natural variantiVAR_072572179S → L in NLS2. 1 PublicationCorresponds to variant rs587777777dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi29968.
MalaCardsiPSAT1.
MIMi610992. phenotype.
616038. phenotype.
OpenTargetsiENSG00000135069.
Orphaneti2671. Neu-Laxova syndrome.
284417. Phosphoserine aminotransferase deficiency.
PharmGKBiPA128395782.

Polymorphism and mutation databases

DMDMi20141815.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001501351 – 370Phosphoserine aminotransferaseAdd BLAST370

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei51N6-acetyllysineCombined sources1
Modified residuei127N6-acetyllysineBy similarity1
Modified residuei200N6-(pyridoxal phosphate)lysineBy similarity1
Modified residuei269N6-acetyllysineCombined sources1
Modified residuei318N6-acetyllysineCombined sources1
Modified residuei323N6-acetyllysineCombined sources1
Modified residuei331PhosphoserineCombined sources1
Modified residuei333N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y617.
PaxDbiQ9Y617.
PeptideAtlasiQ9Y617.
PRIDEiQ9Y617.

2D gel databases

REPRODUCTION-2DPAGEIPI00001734.

PTM databases

iPTMnetiQ9Y617.
PhosphoSitePlusiQ9Y617.
SwissPalmiQ9Y617.

Expressioni

Tissue specificityi

Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.

Gene expression databases

BgeeiENSG00000135069.
CleanExiHS_PSAT1.
ExpressionAtlasiQ9Y617. baseline and differential.
GenevisibleiQ9Y617. HS.

Organism-specific databases

HPAiCAB014882.
CAB040567.
HPA042924.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi119001. 37 interactors.
IntActiQ9Y617. 3 interactors.
MINTiMINT-1490243.
STRINGi9606.ENSP00000365773.

Structurei

Secondary structure

1370
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi19 – 27Combined sources9
Beta strandi29 – 31Combined sources3
Helixi32 – 34Combined sources3
Beta strandi35 – 37Combined sources3
Turni39 – 41Combined sources3
Helixi47 – 64Combined sources18
Beta strandi70 – 77Combined sources8
Helixi78 – 90Combined sources13
Helixi91 – 93Combined sources3
Beta strandi98 – 101Combined sources4
Helixi106 – 115Combined sources10
Turni116 – 118Combined sources3
Beta strandi119 – 123Combined sources5
Beta strandi129 – 131Combined sources3
Helixi137 – 139Combined sources3
Beta strandi149 – 155Combined sources7
Turni156 – 159Combined sources4
Beta strandi173 – 176Combined sources4
Turni178 – 182Combined sources5
Helixi188 – 190Combined sources3
Beta strandi192 – 197Combined sources6
Turni198 – 202Combined sources5
Beta strandi208 – 213Combined sources6
Helixi226 – 228Combined sources3
Helixi230 – 234Combined sources5
Turni235 – 238Combined sources4
Helixi245 – 260Combined sources16
Helixi263 – 283Combined sources21
Beta strandi288 – 290Combined sources3
Helixi295 – 297Combined sources3
Beta strandi300 – 309Combined sources10
Helixi314 – 326Combined sources13
Beta strandi329 – 331Combined sources3
Turni336 – 338Combined sources3
Beta strandi340 – 344Combined sources5
Helixi351 – 368Combined sources18

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3E77X-ray2.50A/B/C17-370[»]
ProteinModelPortaliQ9Y617.
SMRiQ9Y617.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y617.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni79 – 80Pyridoxal phosphate bindingBy similarity2
Regioni241 – 242Pyridoxal phosphate bindingBy similarity2

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2790. Eukaryota.
COG1932. LUCA.
GeneTreeiENSGT00390000015177.
HOGENOMiHOG000088965.
HOVERGENiHBG001218.
InParanoidiQ9Y617.
KOiK00831.
OMAiGAQKNMG.
OrthoDBiEOG091G0964.
PhylomeDBiQ9Y617.
TreeFamiTF312975.

Family and domain databases

CDDicd00611. PSAT_like. 1 hit.
Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
HAMAPiMF_00160. SerC_aminotrans_5. 1 hit.
InterProiIPR000192. Aminotrans_V_dom.
IPR020578. Aminotrans_V_PyrdxlP_BS.
IPR022278. Pser_aminoTfrase.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view]
PfamiPF00266. Aminotran_5. 1 hit.
[Graphical view]
PIRSFiPIRSF000525. SerC. 1 hit.
SUPFAMiSSF53383. SSF53383. 1 hit.
TIGRFAMsiTIGR01364. serC_1. 1 hit.
PROSITEiPS00595. AA_TRANSFER_CLASS_5. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y617-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDAPRQVVNF GPGPAKLPHS VLLEIQKELL DYKGVGISVL EMSHRSSDFA
60 70 80 90 100
KIINNTENLV RELLAVPDNY KVIFLQGGGC GQFSAVPLNL IGLKAGRCAD
110 120 130 140 150
YVVTGAWSAK AAEEAKKFGT INIVHPKLGS YTKIPDPSTW NLNPDASYVY
160 170 180 190 200
YCANETVHGV EFDFIPDVKG AVLVCDMSSN FLSKPVDVSK FGVIFAGAQK
210 220 230 240 250
NVGSAGVTVV IVRDDLLGFA LRECPSVLEY KVQAGNSSLY NTPPCFSIYV
260 270 280 290 300
MGLVLEWIKN NGGAAAMEKL SSIKSQTIYE IIDNSQGFYV CPVEPQNRSK
310 320 330 340 350
MNIPFRIGNA KGDDALEKRF LDKALELNML SLKGHRSVGG IRASLYNAVT
360 370
IEDVQKLAAF MKKFLEMHQL
Length:370
Mass (Da):40,423
Last modified:January 23, 2002 - v2
Checksum:iBAF9A10E71B165B4
GO
Isoform 2 (identifier: Q9Y617-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     291-336: Missing.

Show »
Length:324
Mass (Da):35,189
Checksum:i4F83811D3593DDA1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti40L → V in AAH16645 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04823587P → A.Corresponds to variant rs11540974dbSNPEnsembl.1
Natural variantiVAR_07257199A → V in NLS2. 1 PublicationCorresponds to variant rs587777778dbSNPEnsembl.1
Natural variantiVAR_037252100D → A in PSATD; reduced Vmax. 1 PublicationCorresponds to variant rs118203967dbSNPEnsembl.1
Natural variantiVAR_072572179S → L in NLS2. 1 PublicationCorresponds to variant rs587777777dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000237291 – 336Missing in isoform 2. 2 PublicationsAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF113132 mRNA. Translation: AAD42052.1.
AY131232 mRNA. Translation: AAN71736.1.
BT006840 mRNA. Translation: AAP35486.1.
AL353594 Genomic DNA. Translation: CAI16882.1.
AL353594 Genomic DNA. Translation: CAI16883.1.
CH471089 Genomic DNA. Translation: EAW62621.1.
CH471089 Genomic DNA. Translation: EAW62617.1.
BC000971 mRNA. Translation: AAH00971.1.
BC004863 mRNA. Translation: AAH04863.1.
BC016645 mRNA. Translation: AAH16645.1.
BC018129 mRNA. Translation: AAH18129.1.
CCDSiCCDS6659.1. [Q9Y617-2]
CCDS6660.1. [Q9Y617-1]
RefSeqiNP_066977.1. NM_021154.4. [Q9Y617-2]
NP_478059.1. NM_058179.3. [Q9Y617-1]
UniGeneiHs.494261.

Genome annotation databases

EnsembliENST00000347159; ENSP00000317606; ENSG00000135069. [Q9Y617-2]
ENST00000376588; ENSP00000365773; ENSG00000135069. [Q9Y617-1]
GeneIDi29968.
KEGGihsa:29968.
UCSCiuc004ala.5. human. [Q9Y617-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF113132 mRNA. Translation: AAD42052.1.
AY131232 mRNA. Translation: AAN71736.1.
BT006840 mRNA. Translation: AAP35486.1.
AL353594 Genomic DNA. Translation: CAI16882.1.
AL353594 Genomic DNA. Translation: CAI16883.1.
CH471089 Genomic DNA. Translation: EAW62621.1.
CH471089 Genomic DNA. Translation: EAW62617.1.
BC000971 mRNA. Translation: AAH00971.1.
BC004863 mRNA. Translation: AAH04863.1.
BC016645 mRNA. Translation: AAH16645.1.
BC018129 mRNA. Translation: AAH18129.1.
CCDSiCCDS6659.1. [Q9Y617-2]
CCDS6660.1. [Q9Y617-1]
RefSeqiNP_066977.1. NM_021154.4. [Q9Y617-2]
NP_478059.1. NM_058179.3. [Q9Y617-1]
UniGeneiHs.494261.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3E77X-ray2.50A/B/C17-370[»]
ProteinModelPortaliQ9Y617.
SMRiQ9Y617.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119001. 37 interactors.
IntActiQ9Y617. 3 interactors.
MINTiMINT-1490243.
STRINGi9606.ENSP00000365773.

PTM databases

iPTMnetiQ9Y617.
PhosphoSitePlusiQ9Y617.
SwissPalmiQ9Y617.

Polymorphism and mutation databases

DMDMi20141815.

2D gel databases

REPRODUCTION-2DPAGEIPI00001734.

Proteomic databases

EPDiQ9Y617.
PaxDbiQ9Y617.
PeptideAtlasiQ9Y617.
PRIDEiQ9Y617.

Protocols and materials databases

DNASUi29968.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347159; ENSP00000317606; ENSG00000135069. [Q9Y617-2]
ENST00000376588; ENSP00000365773; ENSG00000135069. [Q9Y617-1]
GeneIDi29968.
KEGGihsa:29968.
UCSCiuc004ala.5. human. [Q9Y617-1]

Organism-specific databases

CTDi29968.
DisGeNETi29968.
GeneCardsiPSAT1.
HGNCiHGNC:19129. PSAT1.
HPAiCAB014882.
CAB040567.
HPA042924.
MalaCardsiPSAT1.
MIMi610936. gene.
610992. phenotype.
616038. phenotype.
neXtProtiNX_Q9Y617.
OpenTargetsiENSG00000135069.
Orphaneti2671. Neu-Laxova syndrome.
284417. Phosphoserine aminotransferase deficiency.
PharmGKBiPA128395782.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2790. Eukaryota.
COG1932. LUCA.
GeneTreeiENSGT00390000015177.
HOGENOMiHOG000088965.
HOVERGENiHBG001218.
InParanoidiQ9Y617.
KOiK00831.
OMAiGAQKNMG.
OrthoDBiEOG091G0964.
PhylomeDBiQ9Y617.
TreeFamiTF312975.

Enzyme and pathway databases

UniPathwayiUPA00135; UER00197.
UPA00244; UER00311.
BioCyciMetaCyc:HS05946-MONOMER.
ZFISH:HS05946-MONOMER.
BRENDAi2.6.1.52. 2681.
ReactomeiR-HSA-977347. Serine biosynthesis.

Miscellaneous databases

ChiTaRSiPSAT1. human.
EvolutionaryTraceiQ9Y617.
GeneWikiiPSAT1.
GenomeRNAii29968.
PROiQ9Y617.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135069.
CleanExiHS_PSAT1.
ExpressionAtlasiQ9Y617. baseline and differential.
GenevisibleiQ9Y617. HS.

Family and domain databases

CDDicd00611. PSAT_like. 1 hit.
Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
HAMAPiMF_00160. SerC_aminotrans_5. 1 hit.
InterProiIPR000192. Aminotrans_V_dom.
IPR020578. Aminotrans_V_PyrdxlP_BS.
IPR022278. Pser_aminoTfrase.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view]
PfamiPF00266. Aminotran_5. 1 hit.
[Graphical view]
PIRSFiPIRSF000525. SerC. 1 hit.
SUPFAMiSSF53383. SSF53383. 1 hit.
TIGRFAMsiTIGR01364. serC_1. 1 hit.
PROSITEiPS00595. AA_TRANSFER_CLASS_5. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSERC_HUMAN
AccessioniPrimary (citable) accession number: Q9Y617
Secondary accession number(s): Q5T7G5
, Q5T7G6, Q96AW2, Q9BQ12
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 23, 2002
Last modified: November 30, 2016
This is version 176 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.