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FLASH GENE
Symbol POU1F1 contributors: /mct - updated : 06-10-2021
HGNC name POU class 1 homeobox 1
HGNC id 9210
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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1262 32.8 291 major isoform in human pituitary gland 2021 34270938
  • variant (alpha) uses an alternate in-frame splice site in the 5' coding region, compared to variant beta, resulting in a shorter protein (isoform alpha)
  • 6 - 1340 35.5 317 - 2021 34270938
  • variant (beta), also known as GHF-2 or PIT-2, represents the longer transcript and encodes the longer isoform (beta
  • interferes with alpha-isoform-mediated auto-activation
  • has an insertion of 26 amino acids located at amino acid 48 in the transactivation domain
  • 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
  • three main domains, an N-terminal transcription activation domain (TAD), and within the TAD, a beta-domain can be inserted by alternative splicing, giving an extended 'beta-variant' with altered properties
  • a POU-specific domain
  • a C-terminal homeodomain
  • 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,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    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
  • role of POU1F1 upregulation by HMGA proteins in pituitary tumours
  • serves essential functions in the differentiation and proliferation of somatotropes, lactotropes and thyrotropes
  • 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)
  • POU1F1 is a transcription factor that regulates TFPI transcription in response to ADTRP
  • POU1F1 induces a metabolic reprogramming through LDHA regulation in breast tumor cells, modifying the phenotype of both cancer cells and fibroblasts to promote cancer progression
  • 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
  • to coronary artery disease (CAD)
  • Variant & Polymorphism SNP , other
  • increasing the risk of mental retardation, mild and borderline in females
  • POU1F1 variants associated to risk of CAD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS