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FLASH GENE
Symbol POU1F1 contributors: /mct - updated : 29-04-2006
HGNC name POU class 1 homeobox 1
HGNC id 9210
Corresponding disease
CPHD1 pituitary dwarfism, with combined deficiency of TSH, GH and PRL
Location 3p11.2      Physical location : 87.308.782 - 87.325.737
Synonym name
  • POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
  • growth hormone factor 1
  • pituitary-specific positive transcription factor 1
  • Synonym symbol(s) PIT1, GHF1, POU1F1a
    DNA
    TYPE functioning gene
    STRUCTURE 16.95 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   transcription factor
    text structure a TATA-like sequence and one single Sp1 site
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391554 3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) LOC391555 3 similar to hypothetical protein DKFZp434L0850 LOC389133 3 LOC389133 GBE1 3p12 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) CYP51P1 3q12.1-q13.11 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) LOC389135 3 similar to hypothetical protein FLJ11292 LOC253559 3p12.2 nectin-like protein 3 LOC51159 3p12.2 colon carcinoma related protein LOC389136 3 similar to vestigial-like 2 isoform 1; transcription cofactor vestigial-like 2 LOC285232 3p12.2 phosphoribosyl pyrophosphate amidotransferase pseudogene DKFZP564O123 3p12.1 DKFZP564O123 protein POU1F1 3p11 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) LOC285233 3p12.1 similar to keratin 8, type II cytoskeletal - human LOC200899 3p12.1 similar to protease (prosome, macropain) 26S subunit, ATPase 1 HTR1F 3p14.1-p13 5-hydroxytryptamine (serotonin) receptor 1F CGGBP1 3p12-p11.1 CGG triplet repeat binding protein 1 FLJ10997 3p12.1 hypothetical protein FLJ10997 MGC26717 3p12.1 hypothetical protein MGC26717 LOC344653 3p12.1 similar to ATP-binding cassette, sub-family F, member 2 isoform b; ABC-type transport protein; Iron inhibited ABC transporter 2 EPHA3 3p11.2 EphA3 PROS1 3p11 protein S (alpha) DKFZp761H079 3q11.2 hypothetical protein DKFZp761H079 LOC200895 3q11.2 hypothetical protein LOC200895 FLJ22609 3q11.2 hypothetical protein FLJ22609
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1262 32.8 291 - -
    6 - 1340 35.5 317 - -
    also called GHF-2 or PIT-2
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandular  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    endocrineendocrine cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text Rathke pouch, at an early stage of pituitary development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 1 homeobox DNA-binding domain
  • 1 POU-specific domain
  • HOMOLOGY
    interspecies homolog to Drosophila bicoid
    homolog to murine Pit1
    intraspecies homolog to POU3F3
    Homologene
    FAMILY
  • POU transcription factor family
  • class 1 subfamily
  • CATEGORY DNA associated , transcription factor , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the specification of the lactotrope, somatotrope and thyrotrope phenotypes in the developing anterior pituitary
  • phosphate transporter involved in regulated phosphate handling in bone forming cells
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • ETS1 (interactions regulated by phosphorylation of POU1F1)
  • binding PITX2
  • reciprocally interacting with GATA2 for the mediation of signaling gradient-induced determination of pituitary cell types
  • interacting with ANKH (Wang 2009)
  • cell & other
    REGULATION
    Other expressed with POMC in a subset of adult anterior pituitary cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CPHD1
    Susceptibility to mental retardation, mild and borderline in females
    Variant & Polymorphism SNP increasing the risk of mental retardation, mild and borderline in females
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS