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

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; 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CRHR1_2002 (e-PCR)
- UniSTS:280623

Crhr1 (e-PCR), detects polymorphism
- UniSTS:497466

GDB:572879 (e-PCR)
- UniSTS:157777

GDB:572888 (e-PCR)
- UniSTS:157778

SHGC-12889 (e-PCR)
- UniSTS:77037

Readthrough LINC02210-CRHR1

Readthrough gene: LINC02210-CRHR1, Included gene: LINC02210

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 G protein-coupled receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 hormone-mediated signaling pathway	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 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

NG_009902.2 RefSeqGene

Range

5002..56510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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)
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
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
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)