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

    Gene ID: 1394, updated on 26-Jun-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 Epigenomics, MapViewer
    Location:
    17q21.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (45784280..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 MGC57346-CRHR1 readthrough Neighboring gene CRHR1 intronic transcript 1 Neighboring gene uncharacterized LOC105371802 Neighboring gene uncharacterized LOC105371801 Neighboring gene MAPT antisense RNA 1 Neighboring gene signal peptide peptidase like 2C Neighboring gene MAPT intronic transcript 1 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough MGC57346-CRHR1

    Readthrough gene: MGC57346-CRHR1, Included gene: MGC57346

    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
     
    feeding behavior 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
     
    cytosol 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
    corticotropin-releasing factor type 1 receptor
    seven transmembrane helix 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 RefSeqGene

      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 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/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 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/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 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/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 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
      UniProtKB/TrEMBL
      A0A024R9X9
      UniProtKB/TrEMBL
      G3CIS4
      UniProtKB/TrEMBL
      K9J956
      UniProtKB/Swiss-Prot
      P34998
      Conserved Domains (1) summary
      cl21587
      Location:12184
      7tm_2; 7 transmembrane receptor (Secretin family)
    5. NM_001303020.1NP_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
      Consensus CDS
      CCDS77049.1
      UniProtKB/TrEMBL
      B3SXS2
      UniProtKB/TrEMBL
      B3TIK8
      UniProtKB/TrEMBL
      G3CIS4
      Related
      ENSP00000340522, ENST00000339069
      Conserved Domains (1) summary
      pfam00002
      Location:15258
      7tm_2; 7 transmembrane receptor (Secretin family)
    6. NM_004382.4NP_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)
      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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      45784280..45835828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      952322..1003890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p2 ALT_REF_LOCI_2

      Range
      486391..537950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      44108469..44160028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)