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

Gene ID: 1394, updated on 5-Jul-2020

Summary

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
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

Genomic context

See CRHR1 in Genome Data Viewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 LINC02210-CRHR1 readthrough Neighboring gene uncharacterized LOC105371802 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

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough LINC02210-CRHR1

Readthrough gene: LINC02210-CRHR1, Included gene: LINC02210

Homology

Clone Names

  • FLJ42904

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
corticotrophin-releasing factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
corticotrophin-releasing factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
corticotropin-releasing hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
corticotropin-releasing hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface receptor signaling pathway 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
 
female pregnancy NAS
Non-traceable Author Statement
more info
PubMed 
hormone-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
parturition TAS
Traceable Author Statement
more info
PubMed 
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
 
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 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5041..56567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145146.2NP_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
    ENSP00000381333.3, ENST00000398285.7
    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_001145147.2NP_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
    ENSP00000344068.5, ENST00000352855.9
    Conserved Domains (2) summary
    pfam00002
    Location:76319
    7tm_2; 7 transmembrane receptor (Secretin family)
    cl02422
    Location:2871
    HRM; Hormone receptor domain
  3. NM_001145148.2NP_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
    ENSP00000462016.1, ENST00000577353.5
    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_001303018.2NP_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 (2) summary
    cd14964
    Location:1436
    7tm_GPCRs; TM helix 3 [structural motif]
    cl28897
    Location:1205
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  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
    ENSP00000340522.6, ENST00000339069.9
    Conserved Domains (1) summary
    cd15445
    Location:15279
    7tmB1_CRF-R1; corticotropin-releasing factor receptor 1, member of the class B family of seven-transmembrane G protein-coupled receptors
  6. NM_004382.5NP_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
    P34998
    Related
    ENSP00000326060.5, ENST00000314537.9
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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