CRHR1 Gene (Corticotropin-Releasing Hormone Receptor 1): Function, Associated Diseases, and Expression
Comprehensive biomedical overview of CRHR1, including genomic context, protein function, disease associations, tissue expression, and mutation data.
Gene Information Card
| Symbol | CRHR1 |
|---|---|
| Full Name | corticotropin releasing hormone receptor 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 1394 ncbi.nlm.nih.gov/gene/1394 |
| Ensembl ID | ENSG00000120088 |
| UniProt ID | P34998 |
| OMIM ID | 122561 |
| HGNC ID | 2357 |
| Aliases | CRF1, CRHR, CRF-R, CRF-R1, CRFR1, CRH-R1 |
Description
The CRHR1 gene encodes the corticotropin-releasing hormone receptor 1, a G-protein coupled receptor that binds corticotropin-releasing hormone (CRH) and urocortins. It is primarily expressed in the brain (pituitary, cortex, cerebellum) and plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, mediating stress responses, anxiety, and neuroendocrine regulation. CRHR1 is also involved in immune modulation and has been implicated in psychiatric disorders, inflammatory conditions, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major Depressive Disorder | Altered CRHR1 signaling affects HPA axis activity, contributing to stress-induced depression | ClinVar, PMID: 21376230 |
| Anxiety Disorders | CRHR1 polymorphisms influence stress reactivity and anxiety-like behavior | ClinVar, PMID: 18349062 |
| Post-Traumatic Stress Disorder (PTSD) | CRHR1 variants modulate the risk of PTSD following trauma exposure | ClinVar, PMID: 21857680 |
| Inflammatory Bowel Disease | CRHR1 expression in gut mucosa regulates local inflammation via CRH signaling | UniProt, PMID: 20047950 |
| Cushing Disease | Ectopic CRHR1 expression in corticotroph adenomas may contribute to ACTH hypersecretion | COSMIC, PMID: 16968796 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 8.4 | High |
| Pituitary | 12.1 | High |
| Cerebellum | 6.2 | Medium |
| Heart | 1.5 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.2 | Neuronal expression |
| U-87 MG (glioblastoma) | 3.8 | Moderate expression |
| MCF7 (breast cancer) | 1.1 | Low expression |
| HCT116 (colorectal carcinoma) | 0.9 | Low expression |
| A549 (lung carcinoma) | 0.4 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs110402 (SNP) | SNP | ~30% (minor allele frequency) | Alters promoter activity, associated with altered stress response |
| rs242924 (SNP) | SNP | ~25% | Linked to depression and anxiety risk |
| c.442G>A (p.Val148Ile) | Missense | Rare | Potential effect on receptor signaling |
| c.1105C>T (p.Arg369Cys) | Missense | Rare | Reported in ClinVar, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CRHR1 are rare; they may impair receptor binding or signal transduction, leading to reduced HPA axis responsiveness.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; however, certain SNPs may increase receptor expression or signaling, enhancing stress responses.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CRHR1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • corticotropin-releasing hormone receptor activity |
| • peptide hormone binding | • plasma membrane |
| • integral component of plasma membrane | • adenylate cyclase-activating G protein-coupled receptor signaling pathway |
| • response to stress | • regulation of corticosterone secretion |
Pathways
• GPCR downstream signaling
• G alpha (s) signalling events
• Corticotropin-releasing hormone signaling pathway
• Hypothalamic-pituitary-adrenal (HPA) axis regulation
Protein Summary
CRHR1 is a 415-amino acid seven-transmembrane G-protein coupled receptor. Upon binding CRH or urocortins, it activates Gs proteins, increasing cAMP production and activating protein kinase A. This leads to the release of adrenocorticotropic hormone (ACTH) from the pituitary, regulating cortisol secretion. CRHR1 is also expressed in peripheral tissues, where it modulates immune and inflammatory responses. Its structure includes an extracellular N-terminus, seven transmembrane helices, and an intracellular C-terminus with phosphorylation sites for desensitization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRHR1 Knockout HEK293 Cell Line | EDJ-KQ50205 | Human | 1394 | Details Get a Quote |
| LINC02210-CRHR1 Knockout HEK293 Cell Line | EDJ-KQ52527 | Human | 104909134 | Details Get a Quote |
| CRHR1 Knockout HeLa Cell Line | EDJ-KQ52979 | Human | 1394 | Details Get a Quote |
| LINC02210-CRHR1 Knockout HeLa Cell Line | EDJ-KQ61008 | Human | 104909134 | Details Get a Quote |
| CRHR1 Knockout A-549 Cell Line | EDJ-KQ61445 | Human | 1394 | Details Get a Quote |
| LINC02210-CRHR1 Knockout A-549 Cell Line | EDJ-KQ69482 | Human | 104909134 | Details Get a Quote |
| CRHR1 Knockout HCT 116 Cell Line | EDJ-KQ69942 | Human | 1394 | Details Get a Quote |
| LINC02210-CRHR1 Knockout HCT 116 Cell Line | EDJ-KQ77835 | Human | 104909134 | Details Get a Quote |
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