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FLASH GENE
Symbol PSAT1 contributors: mct - updated : 07-10-2014
HGNC name phosphoserine aminotransferase 1
HGNC id 19129
Corresponding disease
NELAS2 Neu-Laxova syndrome 2
PSATD phosphoserine aminotransferase deficiency
Location 9q21.31      Physical location : 80.912.058 - 80.945.007
Synonym name endometrial progesterone-induced protein
Synonym symbol(s) PSA, EPIP, PSAT, MGC1460
EC.number 2.6.1.52
DNA
TYPE functioning gene
STRUCTURE 32.95 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 splicing 2221 40 370 - 2003 12633500
  • also called HsPSAT beta
  • 9 exons
  • is the functional protein required for the phosphorylated pathway
  • 8 splicing 2083 35 324 - 2003 12633500
  • also called HsPSAT alpha
  • lacks exon 8 but the reading frame is maintained
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly Homo sapiens
    Lymphoid/Immunespleen   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
     nervecranial nerve  highly Homo sapiens
    Reproductivemale systemtestis  lowly Homo sapiens
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines highly in leukemia Jurkat, colon adenocarcinoma COLO2 320DM, hepatocellular carcinoma HepG2, weakly in leukemia MOLT3
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, S
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • besides a small C-terminal domain, each subunit contains a large pyridoxal 5°š-phosphate (PLP) binding domain implicated in the protein®Cprotein interactions between the subunit
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine PSAT1
    homolog to rattus LOC293820
    Homologene
    FAMILY
  • class V pyridoxal phosphate dependent aminotransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzes the transamination of 3-phosphohydroxypyruvate to 3-phosphoserine with glutamate as amino donor
  • required in pathways of serine and pyridoxine biosynthesis
  • enzyme playing a role in the L-serine biosynthesis which could be implicated in colon cancer progression and chemoresistance
  • can transaminate glyoxylate with good efficiency, using L-glutamate as the best amino-group donor
  • promoted cell cycle progression, cell proliferation and tumorigenesis
  • enzyme for the second step in L-serine biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    three-enzyme serine biosynthesis pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
  • protein
  • PRKCZ represses the expression of PHGDH and PSAT1, and phosphorylates PHGDH at key residues to inhibit its enzymatic activity
  • cell & other
    REGULATION
    Other expression of mRNA is up-regulated during S phase
    ASSOCIATED DISORDERS
    corresponding disease(s) PSATD , NELAS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in colon tumors
    tumoral     --over  
    in non-small cell lung cancer (NSCLC) and was involved in the regulation of E2F activity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target represents a new interesting target for colorectal cancer therapy
    ANIMAL & CELL MODELS