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CRHR1 corticotropin releasing hormone receptor 1 [ Homo sapiens (human) ]

Gene ID: 1394, updated on 25-Jan-2015
Official Symbol
CRHR1provided by HGNC
Official Full Name
corticotropin releasing hormone receptor 1provided by HGNC
Primary source
HGNC:HGNC:2357
See related
Ensembl:ENSG00000120088; HPRD:08830; MIM:122561; Vega:OTTHUMG00000178271
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRF1; CRHR; CRF-R; CRFR1; CRF-R1; CRFR-1; CRH-R1; CRHR1L; CRF-R-1; CRH-R-1
Summary
This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and upstream GeneID:401884 (ADP-ribosylation factor 3 pseudogene), and the readthrough transcripts encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Dec 2014]
Orthologs
See CRHR1 in MapViewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (45620344..45835828)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43697710..43913194)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724375 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 pseudogene Neighboring gene ribosomal protein S26 pseudogene 8 Neighboring gene ADP-ribosylation factor pseudogene Neighboring gene CRHR1 intronic transcript 1 (non-protein coding) Neighboring gene MAPT antisense RNA 1 Neighboring gene signal peptide peptidase like 2C Neighboring gene MAPT intronic transcript 1 (non-protein coding) Neighboring gene microtubule-associated protein tau

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Common variants at 12q15 and 12q24 are associated with infant head circumference.
NHGRI GWA Catalog
Common variants at 6q22 and 17q21 are associated with intracranial volume.
NHGRI GWA Catalog
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
NHGRI GWA Catalog
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
NHGRI GWA Catalog
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Corticotropin-releasing hormone, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystem (from REACTOME)
    Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystemThe precursor peptide pro-opiomelanocortin (POMC) gives rise to many peptide hormones through cleavage. The cleavage products corticotropin (ACTH) and beta-lipotropin give rise to smaller peptides th...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class B Secretin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class B Secretin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • Long-term depression, organism-specific biosystem (from KEGG)
    Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • Long-term depression, conserved biosystem (from KEGG)
    Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • Metabolic disorders of biological oxidation enzymes, organism-specific biosystem (from REACTOME)
    Metabolic disorders of biological oxidation enzymes, organism-specific biosystemThe ability to process xenobiotica and many endogenous compounds is called biotransformation and is catalysed by enzymes mainly in the liver of higher organisms but also a number of other organs such...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough MGC57346-CRHR1

Readthrough gene: MGC57346-CRHR1, Included gene: MGC57346

Homology

Clone Names

  • FLJ42904

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein alpha-subunit binding IEA
Inferred from Electronic Annotation
more info
 
corticotrophin-releasing factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
corticotropin-releasing hormone binding IEA
Inferred from Electronic Annotation
more info
 
corticotropin-releasing hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
adrenal gland development IEA
Inferred from Electronic Annotation
more info
 
behavioral response to cocaine IEA
Inferred from Electronic Annotation
more info
 
behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
 
behavioral response to pain IEA
Inferred from Electronic Annotation
more info
 
cellular response to corticotropin-releasing hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
corticotropin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
fear response IEA
Inferred from Electronic Annotation
more info
 
female pregnancy NAS
Non-traceable Author Statement
more info
PubMed 
general adaptation syndrome, behavioral process IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
locomotory exploration behavior IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epinephrine secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of feeding behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
negative regulation of voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
parturition TAS
Traceable Author Statement
more info
PubMed 
phospholipase C-activating G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mast cell degranulation IEA
Inferred from Electronic Annotation
more info
 
regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of corticosterone secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 
vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
corticotropin-releasing factor receptor 1
Names
corticotropin-releasing factor receptor 1
CRH receptor 1
seven transmembrane helix receptor
corticotropin-releasing factor type 1 receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009902.1 

    Range
    5001..56567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145146.1NP_001138618.1  corticotropin-releasing factor receptor 1 isoform 1 precursor

    See proteins identical to NP_001138618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1b, also known as CRH-R1beta), represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF488558, CK299669, L23333, X72304
    Consensus CDS
    CCDS45712.1
    UniProtKB/Swiss-Prot
    P34998
    Related
    ENSP00000381333, OTTHUMP00000258974, ENST00000398285, OTTHUMT00000441241
    Conserved Domains (2) summary
    smart00008
    Location:40111
    HormR; Domain present in hormone receptors
    pfam00002
    Location:116388
    7tm_2; 7 transmembrane receptor (Secretin family)
  2. NM_001145147.1NP_001138619.1  corticotropin-releasing factor receptor 1 isoform 3 precursor

    See proteins identical to NP_001138619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1c, also known as CRH-R1c), lacks an alternate in-frame exon in both the 5' and central coding regions, compared to variant 1b. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AF488558, CK299669, U16273, X72304
    Consensus CDS
    CCDS45714.1
    UniProtKB/Swiss-Prot
    P34998
    Conserved Domains (2) summary
    pfam00002
    Location:76319
    7tm_2; 7 transmembrane receptor (Secretin family)
    cl02422
    Location:2871
    HRM; Hormone receptor domain
  3. NM_001145148.1NP_001138620.1  corticotropin-releasing factor receptor 1 isoform 4 precursor

    See proteins identical to NP_001138620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1d, also known as CRH-R1d), lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AF180301, AF488558, CK299669, X72304
    Consensus CDS
    CCDS45713.1
    UniProtKB/Swiss-Prot
    P34998
    Conserved Domains (2) summary
    smart00008
    Location:40111
    HormR; Domain present in hormone receptors
    pfam00002
    Location:116355
    7tm_2; 7 transmembrane receptor (Secretin family)
  4. NM_001303018.1NP_001289947.1  corticotropin-releasing factor receptor 1 isoform 1e-B

    See proteins identical to NP_001289947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1e, also known as CRH-R1e) lacks three alternate exons, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1b. The encoded isoform (1e-B) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    FJ200483, HM852949, HY150162
  5. NM_001303020.1NP_001289949.1  corticotropin-releasing factor receptor 1 isoform 1i-B

    See proteins identical to NP_001289949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1i) lacks two alternate exons, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1b. The encoded isoform (1i-B) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    EU012435, HM852949, HY150162
  6. NM_004382.4NP_004373.2  corticotropin-releasing factor receptor 1 isoform 2 precursor

    See proteins identical to NP_004373.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a, also known as CRHR1alpha), lacks an alternate in-frame exon in the central coding region, compared to variant 1b, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AF488558, CK299669, X72304
    Consensus CDS
    CCDS42350.1
    UniProtKB/Swiss-Prot
    P34998
    Related
    ENSP00000326060, OTTHUMP00000258975, ENST00000314537, OTTHUMT00000441242
    Conserved Domains (2) summary
    smart00008
    Location:40111
    HormR; Domain present in hormone receptors
    pfam00002
    Location:116359
    7tm_2; 7 transmembrane receptor (Secretin family)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    45620344..45835828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 

    Range
    952322..1168460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 

    Range
    322468..537950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    43944546..44160028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    39361592..39576987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)