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FLASH GENE
Symbol CRHR1 contributors: mct/shn/pgu - updated : 16-09-2010
HGNC name corticotropin releasing hormone receptor 1
HGNC id 2357
Corresponding disease
DEL17Q21 chromosome 17q21.31 microdeletion syndrome
DUP17Q21 chromosome 17q21 microduplication syndrome
Location 17q21.31      Physical location : 954.315 - 43.913.193
Synonym name
  • corticotropin-releasing factor receptor 1
  • seven transmembrane helix receptor
    • Synonym symbol(s) CRF-R, CRF1, CRFR1, CRH-R1h, CRHR, CRHR1L, CRHR1f, CRF-R-1, CRF-R1; CRFR-1; CRH-R-1, CRH-R1
    DNA
    TYPE functioning gene
    STRUCTURE 51.55 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D17S950 - D17S810 - CRHR1 - D17S920 - D17S791 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2594 - 415 - 1999 10598591
    also called CRHR1alpha or variant 2/isoform 2
    14 - 2681 - 444 - 1999 10598591
    also called CRH-R1beta or variant 1/isoform 1
    12 - 2474 - 375 - 1999 10598591
    also called CRH-R1c or variant 3/isoform 3
    12 - 2552 - 401 pregnant term, myometrium 1999 10598591
  • also called CRH-R1d or variant 4/isoform 4
  • lacking tht seventh TM
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex   Homo sapiens
     brainmidbrain    Homo sapiens
     braindiencephalonhypothalamus  
     brainforebrain    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Muscularsmooth   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousadrenergic cell Homo sapiens
    Nervousdopaminergic neuron Homo sapiens
    nervousolfactory bulb
    Nervousoptic nerve
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM) receptor
    • HOMOLOGY
    interspecies ortholog to crhr1, Danio rerio
    ortholog to CRHR1, Pan troglodytes
    ortholog to Crhr1, Mus musculus
    ortholog to Crhr1, Rattus norvegicus
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
    • CATEGORY signaling hormone , receptor membrane G
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text integral membrane protein
    basic FUNCTION
  • role in mediating the stress response and anxiety-related behaviour
  • plays an important role in the development of a functional HPA axis and in mediating behavioral changes associated with anxiety
  • play a facilitatory role in the non-clathrin-, non-caveolae-mediated endocytosis and intracellular signal transduction of urocortin
  • enhanced 5-HT2R signaling in neurons by promoting the recruitment of constitutively internalized 5-HT2R to the cell surface
  • critically controls behavioral adaptation to stress and is causally linked to emotional disorders
  • an imbalance between CRHR1-controlled anxiogenic glutamatergic and anxiolytic dopaminergic systems might lead to emotional disorders
  • role for this endogenous stress hormone in the resulting structural modifications and cognitive dysfunction
  • modulates early-life stress-programmed cognitive deficits
  • CRHR1 and CRHR2 differentially modulate the dendritic growth of hippocampal neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HPGD (mediate divergent effects on PGDH expression, and this may provide a precise regulation of PGs levels from chorion to myometrium during pregnancy)
  • interacts with synapse-associated protein 97 (DLG1) (interactions with CRHR1 attenuate CRHR1 endocytosis)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL17Q21 , DUP17Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    promotes insulin secretion, thus contributing to the restoration of normoglycemic equilibrium
    constitutional     --over  
    in ectopic rather than eutopic endometrium of women with endometriosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • the medulla and the adrenal gland of mice lacking Crhr1 is atrophied and stress-induced release of adrenocorticotropic hormone (ACTH) and corticosterone is reduced
  • mice null for the CRFR1 gene display markedly reduced anxiety and fail to exhibit the characteristic hormonal response to stress
  • CRFR1-null mice have lower totalpancreatic islet numbers, consistent with a role for Crhr1 in the regulation of beta cell mass (Huising 2010)
  • constitutive Crhr1 knockout (KO, Crhr1KO) mice show reduced anxiety-related behavior