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FLASH GENE
Symbol HHIP contributors: mct - updated : 11-10-2016
HGNC name hedgehog interacting protein
HGNC id 14866
DNA
TYPE functioning gene
STRUCTURE 96.65 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site   cAMP
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3555 - 700 - 2014 25215859
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   predominantly
Lymphoid/Immunethymus   highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two EGF-like domains
  • an HS-binding motif in the cysteine-rich domain of HHIP1 required for its localization to the neuroepithelial basement membrane (BM) to effectively antagonize HH pathway function
  • six-bladed beta-propeller domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Rn.26680
    homolog to Xenopus Xl.17015
    ortholog to murine Hhip
    Homologene
    FAMILY hedgehog family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • involved in attenuation of hedgehog signaling
  • is a surface receptor antagonist that is equipotent against all three mammalian Hh homologs
  • negative regulator of the sonic hedgehog pathway
  • essential role for ligand-dependent feedback inhibition of vertebrate HH signaling governed collectively by PTCH1, PTCH2 and HHIP
  • HHIP non-cell-autonomously inhibits HH-dependent neural progenitor patterning and proliferation
  • secreted activity of HHIP represents a novel mechanism to regulate HH ligand localization and function during embryogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to SHH, IHH, DHH
  • HHIP sequesters SHH, leading to a non-cell autonomous inhibition of the pathway
  • cell & other
    REGULATION
    induced by hedgehog signaling
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in autoimmune hepatitis
    tumoral     --low  
    in most medulloblastoma cell lines
    Susceptibility
  • to variation of lung function in subjects with chronic obstructive pulmonary disease (COPD)
  • to combined pituitary hormone deficiency (CPHD)
  • Variant & Polymorphism SNP , other
  • genetic variants in HHIP are associated with lung function in subjects with COPD
  • SNP in two Hedgehog genes, SHH and HHIP, are genetic cause of combined pituitary hormone deficiency
  • Candidate gene
    Marker
  • expression of HHIP could be considered as significant prognostic marker for patients with glioblastoma (GBM)
  • Therapy target
    ANIMAL & CELL MODELS