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PSAT1 Gene

protein-coding   GIFtS: 65
GCID: GC09P080911

Phosphoserine Aminotransferase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphoserine Aminotransferase 11 2     EC 2.6.1.523 8
PSAT2 3 5     EPIP2 5
Phosphohydroxythreonine Aminotransferase2 3     Endometrial Progesterone-Induced Protein2
PSA2 3     Phosphoserine Aminotransferase2

External Ids:    HGNC: 191291   Entrez Gene: 299682   Ensembl: ENSG000001350697   OMIM: 6109365   UniProtKB: Q9Y6173   

Export aliases for PSAT1 gene to outside databases

Previous GC identifers: GC09P074482 GC09P076369 GC09P078141 GC09P080101 GC09P050743


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PSAT1 Gene:
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 associated with phosphoserine aminotransferase deficiency. Alternative splicing
results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8.
(provided by RefSeq, Jul 2013)

GeneCards Summary for PSAT1 Gene:
PSAT1 (phosphoserine aminotransferase 1) is a protein-coding gene. Diseases associated with PSAT1 include psat deficiency, and schizotypal personality disorder. GO annotations related to this gene include pyridoxal phosphate binding and O-phospho-L-serine:2-oxoglutarate aminotransferase activity.

UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617
Function: Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of
3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine (By similarity)

Gene Wiki entry for PSAT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSAT1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   c-Jun   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSAT1 promoter sequence
   Search Chromatin IP Primers for PSAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.2   Ensembl cytogenetic band:  9q21.2   HGNC cytogenetic band: 9q21.2

PSAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSAT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P080911:  view genomic region     (about GC identifiers)

Start:
80,912,059 bp from pter      End:
80,945,009 bp from pter
Size:
32,951 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617 (See protein sequence)
Recommended Name: Phosphoserine aminotransferase  
Size: 370 amino acids; 40423 Da
Cofactor: Binds 1 pyridoxal phosphate per subunit (By similarity)
Subunit: Homodimer (By similarity)
1 PDB 3D structure from and Proteopedia for PSAT1:
3E77 (3D)    
Secondary accessions: Q5T7G5 Q5T7G6 Q96AW2 Q9BQ12
Alternative splicing: 2 isoforms:  Q9Y617-1   Q9Y617-2   

Explore the universe of human proteins at neXtProt for PSAT1: NX_Q9Y617

Explore proteomics data for PSAT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys16, Lys27, Lys33, Lys51, Lys71, Lys94, Lys117, Lys184, Lys190, Lys300,
                                 Lys311, Lys318, Lys323, Lys333, Lys356, Lys363
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PSAT1 (Q9Y617) (see all 6)
     GHRSVGG  SLYNTPP  IVRDDLL  RASLYNA 


    See PSAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_066977.1  NP_478059.1  

    ENSEMBL proteins: 
     ENSP00000317606   ENSP00000365773  
    Reactome Protein details: Q9Y617

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    Novus Biologicals PSAT1 Proteins
    Novus Biologicals PSAT1 Lysates
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR020578 Aminotrans_V_PyrdxlP_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR000192 Aminotrans_V/Cys_dSase
     IPR003248 Pser_aminoTfrase_subgr

    Graphical View of Domain Structure for InterPro Entry Q9Y617

    ProtoNet protein and cluster: Q9Y617

    2 Blocks protein domains:
    IPB000192 Aminotransferase
    IPB003248 Phosphoserine aminotransferase


    UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617
    Similarity: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily


    PSAT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SERC_HUMAN, Q9Y617
    Function: Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of
    3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine (By similarity)
    Catalytic activity: O-phospho-L-serine + 2-oxoglutarate = 3-phosphonooxypyruvate + L-glutamate
    Catalytic activity: 4-phosphonooxy-L-threonine + 2-oxoglutarate = (3R)-3-hydroxy-2-oxo-4-phosphonooxybutanoate +
    L-glutamate

         Enzyme Number (IUBMB): EC 2.6.1.521 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004648O-phospho-L-serine:2-oxoglutarate aminotransferase activity TAS--
    GO:0030170pyridoxal phosphate binding IEA--
         
    PSAT1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Psat1):
     craniofacial  embryogenesis  growth/size/body  mortality/aging  nervous system 

    PSAT1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PSAT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PSAT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PSAT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PSAT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PSAT1:
    hsa-mir-504-5p (MIRT041083), hsa-mir-125b-5p (MIRT046060), hsa-mir-155-5p (MIRT020766), hsa-mir-16-5p (MIRT001427), hsa-mir-1260b (MIRT052767), hsa-mir-1 (MIRT023797), hsa-mir-26b-5p (MIRT029458), hsa-mir-342-3p (MIRT043679)

    Block miRNA regulation of human, mouse, rat PSAT1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate PSAT1:
    hsa-miR-2115 hsa-miR-3117-3p hsa-miR-3065-3p hsa-miR-145 hsa-miR-545 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidPSAT1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PSAT1
    Predesigned siRNA for gene silencing in human, mouse, rat PSAT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PSAT1 (NM_058179)
    Sino Biological Human cDNA Clone for PSAT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSAT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSAT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    PSAT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PSAT1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    Serine biosynthesis0.00
    3Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    4One carbon pool by folate
    Trans-sulfuration and one carbon metabolism0.43
    5Vitamin B6 metabolism
    Vitamin B6 metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PSAT1
        Trans-sulfuration and one carbon metabolism


    1 Reactome Pathway for PSAT1
        Serine biosynthesis


    5 Kegg Pathways  (Kegg details for PSAT1):
        Glycine, serine and threonine metabolism
    Vitamin B6 metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617
    Pathway: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3
    Pathway: Cofactor biosynthesis; pyridoxine 5'-phosphate biosynthesis; pyridoxine 5'-phosphate from D-erythrose
    4-phosphate: step 3/5


    PSAT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PSAT1: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PSAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PSAT1 (Q9Y6172, 3 ENSP000003657734) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72656 I2D: score=2 
    MAPK6Q166592, 3MINT-8261758 I2D: score=2 
    AMTP487283, ENSP000002735884I2D: score=1 STRING: ENSP00000273588
    NEMFO605243, ENSP000002983104I2D: score=1 STRING: ENSP00000298310
    NTMT1Q9BV863, ENSP000003615584I2D: score=1 STRING: ENSP00000361558
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006564L-serine biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008615pyridoxine biosynthetic process NAS10637769
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    PSAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PSAT1 (SERC)

    Selected HMDB Compounds for PSAT1 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Oxo-3-hydroxy-4-phosphobutanoic acidalpha-Keto-3-hydroxy-4-phosphobutyrate (see all 5)----
    DL-O-Phosphoserine3-phospho-1-serine (see all 19)17885-08-4--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    O-Phospho-4-hydroxy-L-threonine4-(Phosphonooxy)-threonine (see all 4)----
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Phosphohydroxypyruvic acid2-oxo-3-(phosphonooxy)-Propanoate (see all 8)3913-50-6--
    Phosphoserine3-O-Phosphoserine (see all 12)407-41-0--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyridoxine2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine (see all 16)65-23-6--

    2 DrugBank Compounds for PSAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor8695645 17139284 10024454 17016423 10592235 16532449
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 10024454 17016423 15103612

    9 Novoseek inferred chemical compound relationships for PSAT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoserine 85.9 31 17436247 (3), 16532449 (3), 8695645 (3), 15883191 (2) (see all 15)
    pyridoxal 5-phosphate 47.6 1 8695645 (1)
    finasteride 42.1 2 15783106 (1), 9014718 (1)
    flutamide 40.7 2 10897582 (1), 9014718 (1)
    alanine 24.3 5 18602071 (1), 19545238 (1)
    serine 19.6 4 18221502 (1), 12633500 (1), 17436247 (1), 8292015 (1)
    gnrh 9.51 3 9843637 (2), 10753305 (1)
    aspartate 1.81 2 8695645 (1)
    calcium 0 1 14987256 (1)



    PSAT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PSAT1 gene (2 alternative transcripts): 
    NM_021154.4  NM_058179.3  

    Unigene Cluster for PSAT1:

    Phosphoserine aminotransferase 1
    Hs.494261  [show with all ESTs]
    Unigene Representative Sequence: NM_058179
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347159 ENST00000376588(uc004ala.3 uc004alb.3)
    miRNA
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    hsa-miR-2115 hsa-miR-3117-3p hsa-miR-3065-3p hsa-miR-145 hsa-miR-545 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidPSAT1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PSAT1
      QuantiFast Probe-based Assays in human, mouse, rat PSAT1

    Additional mRNA sequence: 

    AF113132.1 AK025460.1 AK295222.1 AK295310.1 AY131232.1 BC000971.1 BC004863.2 BC016645.2 
    BC018129.1 BT006840.1 

    18 DOTS entries:

    DT.100816433  DT.95098100  DT.453016  DT.121351535  DT.121194539  DT.92465285  DT.100816435  DT.100816439 
    DT.100816440  DT.92045821  DT.92465298  DT.95311144  DT.95375312  DT.97790550  DT.100736181  DT.100869174 
    DT.121194521  DT.95252392 

    Selected AceView cDNA sequences (see all 423):

    BM782630 BF343869 AA612847 BI792995 BC004863 BQ018775 AA079251 CK903843 
    CF272276 AI362995 CD635655 CR619649 BU600753 AI582816 H66607 AI139839 
    BQ050654 BM825142 BQ432397 CN482017 AA630687 BM800588 CA415211 AI277886 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PSAT1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                                                                              
    SP2:                          -     -     -     -                                 
    SP3:                                                        -                     


    ECgene alternative splicing isoforms for PSAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PSAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAACACACA
    PSAT1 Expression
    About this image


    PSAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Trachea
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem E15, Meso-prx/latp Progenitor
    PSAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494261

    UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617
    Tissue specificity: Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed
    in the thymus, prostate, testis and colon

        Pathway & Disease-focused RT2 Profiler PCR Array including PSAT1: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PSAT1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PSAT1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psat11 , 5 phosphoserine aminotransferase 11, 5 86.31(n)1
    92.43(a)1
      19 (10.86 cM)5
    1072721  NM_177420.21  NP_803155.11 
     159046785 
    chicken
    (Gallus gallus)
    Aves PSAT11 phosphoserine aminotransferase 1 76.51(n)
    81.3(a)
      427263  XM_424846.4  XP_424846.3 
    lizard
    (Anolis carolinensis)
    Reptilia PSAT16
    phosphoserine aminotransferase 1
    68(a)
    1 ↔ 1
    2(45446219-45473605)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120782 Transcribed sequence with moderate similarity to protein more 76.54(n)    BX702888.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044467.12   -- 75.3(n)   327512  BC044467.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118991 CG11899 60.39(n)
    63.76(a)
      46391  NM_143789.3  NP_652046.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F26H9.51 F26H9.5 56.28(n)
    53.28(a)
      172756  NM_060082.4  NP_492483.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SER1(YOR184W)4
    SER11
    3-phosphoserine aminotransferase, catalyzes the formation more4
    SER11
    50.66(n)1
    43.79(a)1
      15(679357-680544)4
    8543561, 4  NP_014827.31  NP_014827.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PSAT1 PSAT 56.89(n)
    51.96(a)
      829715  NM_119728.2  NP_195288.1 
    rice
    (Oryza sativa)
    Liliopsida Os.48912 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.03(n)    AK122101.1 


    ENSEMBL Gene Tree for PSAT1 (if available)
    TreeFam Gene Tree for PSAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSAT1 gene

    PSAT1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for PSAT1
    PGOHUM00000244078 PGOHUM00000240063 PGOHUM00000238254 PGOHUM00000260401


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PSAT1 (see all 882)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0372524
    Phosphoserine aminotransferase deficiency (PSATD)4--see VAR_0372522 D A mis40--------
    rs1182039671,2
    Cpathogenic180801633(+) TGCTGA/CCTATG 4 D A mis10--------
    rs58985801,2
    C--50745496(+) TTTTTT/-AATCT 2 -- int1 trp31Minor allele frequency- -:0.00CSA 2
    rs117889951,2
    C,F,H--50758056(+) TTTTTT/CCCCAC 2 -- int1 trp35Minor allele frequency- C:0.36NA CSA 11
    rs1452430091,2
    C--50758056(+) TTTTT-/C/TCCCAC 2 -- int11CSA 2
    rs1999482541,2
    C--50758059(-) TCTGTA/GGGGAA 2 -- int10--------
    rs3729355021,2
    C--50774523(+) GGAAT-/GTCCTCA
    CATGAGAATA
    GCCCA
    2 -- int10--------
    rs1457750491,2
    C--50774539(+) GAATA-/GCAGC 
    AGGGAGAT
    GCCCA
    2 -- int10--------
    rs1862986691,2
    --80792061(+) AAAAGA/GAGATT 2 -- us2k10--------
    rs38089051,2
    C,F,A,H--80792118(+) CTGACT/GGTATG 2 -- us2k129Minor allele frequency- G:0.43NS EA NA WA CSA 2772

    HapMap Linkage Disequilibrium report for PSAT1 (80912059 - 80945009 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PSAT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821540CNV Duplication20802225
    nsv6575CNV Insertion18451855
    dgv1223n67CNV Loss20364138
    nsv521626CNV Loss19592680
    nsv831632CNV Gain17160897

    Human Gene Mutation Database (HGMD): PSAT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for PSAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610936   
    OMIM disorders: 610992  
    UniProtKB/Swiss-Prot: SERC_HUMAN, Q9Y617
  • Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]: Characterized biochemically by low plasma
    and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired
    microcephaly, hypertonia, and psychomotor retardation. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for PSAT1 (see all 29):    
    About MalaCards
    psat deficiency    schizotypal personality disorder    hypertonia    serine deficiency
    personality disorder    prostate adenocarcinoma    schizophrenia    small cell carcinoma
    myasthenia gravis    microcephaly    migraine    prostatitis
    labyrinthitis    bronchiolitis    prostate cancer    adenocarcinoma
    adenoma    neuroblastoma    tuberculosis    obesity

    3 diseases from the University of Copenhagen DISEASES database for PSAT1:
    Prostate cancer     Serine deficiency     Schizotypal personality disorder

    PSAT1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for PSAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 57.1 24 11011445 (3), 8886913 (3), 11186321 (2), 12016375 (2) (see all 10)
    prostate carcinoma 50.7 3 10897582 (1), 7535074 (1), 19533181 (1)
    benign prostatic hyperplasia 36.9 5 12016375 (2), 11144651 (1), 11848613 (1)
    prostatic adenocarcinoma 33.5 1 15251328 (1)
    shock 15.4 1 12179986 (1)
    cancer 4.78 8 20223131 (3), 16538643 (1)
    metastasis 0 5 10897582 (1), 15783106 (1), 18221502 (1)
    tumors 0 13 16600801 (4), 12897159 (4), 18797883 (1), 16538643 (1) (see all 7)

    Genetic Association Database (GAD): PSAT1

    Export disorders for PSAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PSAT1 gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with PSAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis. (PubMed id 12633500)1, 2, 3, 9 Baek J.Y.... Kim Y.H. (Biochem. J. 2003)
    2. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. (PubMed id 17436247)1, 2, 9 Hart C.E.... Van Schaftingen E. (Am. J. Hum. Genet. 2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. A novel progesterone-induced messenger RNA in rabbit and human endometria. Cloning and sequence analysis of the complementary DNA. (PubMed id 3651428)1, 3 Misrahi M....Milgrom E. (Biochemistry 1987)
    5. Phosphoserine aminotransferase from Bacillus circulans subsp. alkalophilus: purification, gene cloning and sequencing. (PubMed id 8695645)7, 9 Battchikova N....Korpela T. (Biochim. Biophys. Acta 1996)
    6. Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells. (PubMed id 18221502)1, 9 ViAc N....Gongora C. (Mol. Cancer 2008)
    7. Effect of pH on the structure and stability of Bacillus circulans ssp. alkalophilus phosphoserine aminotransferase: thermodynamic and crystallographic studies. (PubMed id 16532449)7, 9 Kapetaniou E.G....Papageorgiou A.C. (Proteins 2006)
    8. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    9. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29968 HGNC: 19129 AceView: PSAT1 Ensembl:ENSG00000135069 euGenes: HUgn29968
    ECgene: PSAT1 Kegg: 29968 H-InvDB: PSAT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PSAT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PSAT1 gene:
    Search GeneIP for patents involving PSAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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