ARRB1 (Arrestin Beta 1) Gene
A key regulator of G protein-coupled receptor signaling and cellular trafficking
Gene Information Card
| Symbol | ARRB1 |
|---|---|
| Full Name | Arrestin Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 408 ncbi.nlm.nih.gov/gene/408 |
| Ensembl ID | ENSG00000137486 |
| UniProt ID | P49407 |
| OMIM ID | 107940 |
| HGNC ID | 711 |
| Aliases | ARR1, ARRESTIN1, BARR1 |
Description
The ARRB1 gene encodes beta-arrestin-1, a member of the arrestin family that regulates G protein-coupled receptor (GPCR) signaling by mediating receptor desensitization, internalization, and downstream signaling pathways. Beta-arrestin-1 also acts as a scaffold protein, interacting with various signaling molecules such as Src, MAP kinases, and NF-κB, thereby influencing cell proliferation, apoptosis, and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ARRB1 mutations or altered expression can disrupt GPCR signaling and promote tumor growth, metastasis, and drug resistance. | PMID: 25691885; COSMIC |
| Cardiovascular disease | Beta-arrestin-1 modulates cardiac contractility and remodeling; dysregulation contributes to heart failure and hypertension. | PMID: 23520315; ClinVar |
| Neurodegenerative disorders | ARRB1 influences dopamine and opioid receptor signaling, implicated in Parkinson's disease and addiction. | PMID: 19805314; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| A549 | 8.5 | Low expression |
| MCF7 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Altered receptor binding affinity |
| c.457C>T (p.Pro153Ser) | Missense | <0.01% | Reduced interaction with clathrin |
| c.820_821insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein impair GPCR desensitization and internalization.
Gain of Function (GOF)
Missense mutations enhancing Src or MAPK scaffolding may promote oncogenic signaling.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Gly38Arg) can interfere with wild-type arrestin function.
View complete mutation data：
Gene Ontology (GO)
| • GPCR signaling pathway | • Receptor internalization |
| • Protein phosphorylation | • Signal transduction |
| • Cell proliferation |
Pathways
• GPCR signaling (Reactome: R-HSA-372790)
• Beta-arrestin signaling (Reactome: R-HSA-8856825)
• MAPK signaling (KEGG: hsa04010)
Protein Summary
Beta-arrestin-1 is a 418-amino acid protein that functions as a key adaptor in GPCR desensitization and internalization. It contains N-terminal and C-terminal domains that bind phosphorylated receptors and clathrin, respectively. Beyond receptor trafficking, beta-arrestin-1 scaffolds signaling complexes (e.g., Src, ERK1/2) and regulates transcription factors such as NF-κB. Its expression is ubiquitous, with highest levels in brain and immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARRB1 Knockout HEK293 Cell Line | EDJ-KQ608 | Human | 408 | Details Get a Quote |
| ARRB1 Knockout A-549 Cell Line | EDJ-KQ19064 | Human | 408 | Details Get a Quote |
| ARRB1 Knockout HCT 116 Cell Line | EDJ-KQ19065 | Human | 408 | Details Get a Quote |
| ARRB1 Knockout HeLa Cell Line | EDJ-KQ18316 | Human | 408 | Details Get a Quote |
| ARRB1 and ARRB2 Knockout HEK293T Cell Line | EDC08108 | Human | 408 and 409 | Details Get a Quote |
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