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FLASH GENE
Symbol IGSF1 contributors: mct - updated : 04-06-2019
HGNC name immunoglobulin superfamily, member 1
HGNC id 5948
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 4594 148.8 1336 - 2002 11854097
5 - 1963 27.1 242 - 2017 28686733
  • IGSF1-2
  • likely retained in most individuals with IGSF1 mutations
  • intracellular glycoprotein
  • 19 - 4557 - 1327 - 2002 11854097
    20 - 4599 - 1341 - 2002 11854097
    5 - 1799 - 242 - 2002 11854097
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineneuroendocrinepituitary  highly Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Nervouscentral    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrinethyrotrophs Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fifteen potential sites for N-linked glycosylation
  • a transmembrane segment
  • a cytoplasmic tail
  • transmembrane glycoprotein with 12 immunoglobulin (Ig) loops
  • C-terminal domain (CTD), which contains the last 7 Ig loops, is trafficked to the plasma membrane
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to alpha 1B glycoprotein
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • potentially involved in cell-surface recognition and/or cell-cell interaction
  • IGSF1 is processed through sequential proteolysis by Signal peptidase (SP) and signal peptide peptidase (SPP)
  • is an important regulator of TGFB1/Activin pathways in the pituitary
  • implicated in pituitary control of the thyroid
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHTE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    are commonly associated with other clinical phenotypes, including prolactin and growth hormone dysregulation, and macroorchidism
    constitutional       loss of function
    may result in severe hypothyroidism during the neonatal period
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Igsf1-deficient male mice show diminished pituitary and serum thyroid-stimulating hormone (TSH) concentrations, reduced pituitary thyrotropin-releasing hormone (TRH) receptor expression, decreased triiodothyronine concentrations, and increased body mass