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

    Gene ID: 1394, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CRHR1provided by HGNC
    Official Full Name
    corticotropin releasing hormone receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:2357
    See related
    Ensembl:ENSG00000120088 MIM:122561; AllianceGenome:HGNC:2357
    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. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in brain (RPKM 2.0), endometrium (RPKM 0.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRHR1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45784320..45835828)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46645948..46697461)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43861686..43913194)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene LINC02210-CRHR1 readthrough Neighboring gene uncharacterized LOC105371802 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:43782244-43783443 Neighboring gene Sharpr-MPRA regulatory region 9533 Neighboring gene uncharacterized LOC107985028 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43822876-43823542 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43823543-43824208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43828999-43829910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43835142-43835642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43840160-43840660 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:43848965-43849573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43862413-43862913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43869433-43869933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43883739-43884240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43884241-43884740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43890849-43891705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43900915-43901416 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43917814-43918023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43922169-43923153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43923154-43924137 Neighboring gene MAPT antisense RNA 1 Neighboring gene signal peptide peptidase like 2C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43971863-43972748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43972749-43973634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43974521-43975405 Neighboring gene MAPT intronic transcript 1 Neighboring gene microtubule associated protein tau

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The CRHR1 gene contributes to genetic susceptibility of aggressive behavior towards others in Chinese southwest Han population. Chen B, et al. J Mol Neurosci, 2014 Apr. PMID 24243082
    2. CRHR1 genotype and history of maltreatment predict cortisol reactivity to stress in adolescents. Sumner JA, et al. Psychoneuroendocrinology, 2014 May. PMID 24703172, Free PMC Article
    3. CRF1 receptor-deficiency induces anxiety-like vulnerability to cocaine. Morisot N, et al. Psychopharmacology (Berl), 2014 Oct. PMID 24687410
    4. Pharmacogenomics and outcome of asthma: no clinical application for long-term steroid effects by CRHR1 polymorphisms. Dijkstra A, et al. J Allergy Clin Immunol, 2008 Jun. PMID 18539200
    5. Indirect effect of corticotropin-releasing hormone receptor 1 gene variation on negative emotionality and alcohol use via right ventrolateral prefrontal cortex. Glaser YG, et al. J Neurosci, 2014 Mar 12. PMID 24623788, Free PMC Article

    See all (292) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Contributions to Attachment Stability Over Time: the Roles of CRHR1 Polymorphisms.
      Title: Genetic Contributions to Attachment Stability Over Time: the Roles of CRHR1 Polymorphisms.
    2. CRHR1 polymorphism at rs242941, rs242940, and rs72834580: association of symptoms improvement with intranasal corticosteroids in allergic rhinitis Jordanian patients.
      Title: CRHR1 polymorphism at rs242941, rs242940, and rs72834580: association of symptoms improvement with intranasal corticosteroids in allergic rhinitis Jordanian patients.
    3. Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome.
      Title: Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome.
    4. Genetic Variation, Stress, and Physiological Stress Response in Adults With Food Allergy or Celiac Disease.
      Title: Genetic Variation, Stress, and Physiological Stress Response in Adults With Food Allergy or Celiac Disease.
    5. Relations among CRFR1 and FKBP5 genotype, cortisol, and cognitive function in aging humans: A Project FRONTIER study.
      Title: Relations among CRFR1 and FKBP5 genotype, cortisol, and cognitive function in aging humans: A Project FRONTIER study.
    6. The role of rs242941, rs1876828, rs242939 and rs110402 polymorphisms of CRHR1 gene and the depression: systematic review and meta-analysis.
      Title: The role of rs242941, rs1876828, rs242939 and rs110402 polymorphisms of CRHR1 gene and the depression: systematic review and meta-analysis.
    7. Spinal pain in employees exposed to abusive supervision: Evidence of a sex and CRHR1 CTC haplotype interaction.
      Title: Spinal pain in employees exposed to abusive supervision: Evidence of a sex and CRHR1 CTC haplotype interaction.
    8. Different effects of chronic social defeat on social behavior and the brain CRF system in adult male C57 mice with different susceptibilities.
      Title: Different effects of chronic social defeat on social behavior and the brain CRF system in adult male C57 mice with different susceptibilities.
    9. Salivary cortisol response to psychosocial stress in the late evening depends on CRHR1 genotype.
      Title: Salivary cortisol response to psychosocial stress in the late evening depends on CRHR1 genotype.
    10. Prenatal and postnatal exposure to Tangshan earthquake and CRHR1 gene polymorphism influence risk of sleep disturbance in adulthood.
      Title: Prenatal and postnatal exposure to Tangshan earthquake and CRHR1 gene polymorphism influence risk of sleep disturbance in adulthood.
    Submit: New GeneRIF Correction See all GeneRIFs (213)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    EBI GWAS Catalog

    Description
    Common variants at 12q15 and 12q24 are associated with infant head circumference.
    EBI GWAS Catalog
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    EBI GWAS Catalog
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough LINC02210-CRHR1

    Readthrough gene: LINC02210-CRHR1, Included gene: LINC02210

    Homology

    Clone Names

    • FLJ42904

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables corticotrophin-releasing factor receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables corticotrophin-releasing factor receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables corticotropin-releasing hormone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables corticotropin-releasing hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in behavioral response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to corticotropin-releasing hormone stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in corticotropin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female pregnancy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in general adaptation syndrome, behavioral process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in parturition TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of corticosterone secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    corticotropin-releasing factor receptor 1
    Names
    corticotropin-releasing factor type 1 receptor
    seven transmembrane helix receptor

    NCBI Reference Sequences (RefSeq)

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    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_009902.2 RefSeqGene

      Range
      5002..56510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145146.2 → NP_001138618.1  corticotropin-releasing factor receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for 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/TrEMBL
      A0A0A0MQZ1
      Related
      ENSP00000381333.3, ENST00000398285.7
      Conserved Domains (2) summary
      smart00008
      Location:40 → 111
      HormR; Domain present in hormone receptors
      pfam00002
      Location:116 → 388
      7tm_2; 7 transmembrane receptor (Secretin family)

    2. NM_001145147.2 → NP_001138619.1  corticotropin-releasing factor receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for 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/TrEMBL
      A0A0A0MQZ1, G3CIS4
      Related
      ENSP00000344068.5, ENST00000352855.9
      Conserved Domains (2) summary
      pfam00002
      Location:76 → 319
      7tm_2; 7 transmembrane receptor (Secretin family)
      cl02422
      Location:28 → 71
      HRM; Hormone receptor domain

    3. NM_001145148.2 → NP_001138620.1  corticotropin-releasing factor receptor 1 isoform 4 precursor

      See identical proteins and their annotated locations for 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/TrEMBL
      A0A0A0MQZ1, G3CIS4
      Related
      ENSP00000462016.1, ENST00000577353.5
      Conserved Domains (2) summary
      smart00008
      Location:40 → 111
      HormR; Domain present in hormone receptors
      pfam00002
      Location:116 → 355
      7tm_2; 7 transmembrane receptor (Secretin family)

    4. NM_001303018.2 → NP_001289947.1  corticotropin-releasing factor receptor 1 isoform 1e-B

      See identical proteins and their annotated locations for 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
      Conserved Domains (2) summary
      cd14964
      Location:14 → 40
      7tm_GPCRs; TM helix 3 [structural motif]
      cl28897
      Location:1 → 205
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    5. NM_001303020.2 → NP_001289949.1  corticotropin-releasing factor receptor 1 isoform 1i-B

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      B3TIK8
      Conserved Domains (1) summary
      cd15445
      Location:15 → 279
      7tmB1_CRF-R1; corticotropin-releasing factor receptor 1, member of the class B family of seven-transmembrane G protein-coupled receptors

    6. NM_004382.5 → NP_004373.2  corticotropin-releasing factor receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for 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)
      CK299669, X72304
      Consensus CDS
      CCDS42350.1
      UniProtKB/Swiss-Prot
      B4DIE9, P34998, Q13008, Q4QRJ1, Q9UK64
      UniProtKB/TrEMBL
      A0A0A0MQZ1, G3CIS4
      Related
      ENSP00000326060.6, ENST00000314537.10
      Conserved Domains (2) summary
      smart00008
      Location:40 → 111
      HormR; Domain present in hormone receptors
      pfam00002
      Location:116 → 359
      7tm_2; 7 transmembrane receptor (Secretin family)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      45784320..45835828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      952322..1003850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      486431..537950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      46645948..46697461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34998.2 GenPept UniProtKB/Swiss-Prot:P34998

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