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

    Gene ID: 1394, updated on 24-Sep-2016
    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. 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]
    Orthologs
    Location:
    17q21.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 CRHR1-IT1-CRHR1 readthrough Neighboring gene CRHR1 intronic transcript 1 Neighboring gene uncharacterized LOC107985028 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
    • 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 ...
    • 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...
    • 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 CRHR1-IT1-CRHR1

    Readthrough gene: CRHR1-IT1-CRHR1, Included gene: CRHR1-IT1

    Homology

    Clone Names

    • FLJ42904

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    corticotrophin-releasing factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    endosome 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 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    corticotropin-releasing factor receptor 1
    Names
    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
      Related
      ENSP00000344068, OTTHUMP00000258976, ENST00000352855, OTTHUMT00000441243
      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
      Related
      ENSP00000462016, OTTHUMP00000258977, ENST00000577353, OTTHUMT00000441245
      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
      Consensus CDS
      CCDS58556.1
      UniProtKB/Swiss-Prot
      P34998
      UniProtKB/TrEMBL
      A0A024R9X9, G3CIS4, K9J956
      Conserved Domains (1) summary
      pfam00002
      Location:3184
      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, B3TIK8, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

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

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p7 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)
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