ARRDC3
Arrestin Domain Containing 3
Gene Information Card
| Symbol | ARRDC3 |
|---|---|
| Full Name | Arrestin Domain Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 57561 ncbi.nlm.nih.gov/gene/57561 |
| Ensembl ID | ENSG00000113369 |
| UniProt ID | Q96B67 |
| OMIM ID | 612464 |
| HGNC ID | 28663 |
| Aliases | KIAA1376, PP13801, TTLP1 |
Description
ARRDC3 (Arrestin Domain Containing 3) encodes a member of the arrestin domain-containing protein family. The protein functions as a scaffold that regulates G protein-coupled receptor (GPCR) signaling and trafficking, and is involved in the ubiquitination and degradation of receptors. It plays roles in adipocyte biology, insulin signaling, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | ARRDC3 deficiency impairs beta-adrenergic receptor signaling in adipose tissue, reducing lipolysis and promoting fat accumulation. | PMID: 24614104 |
| Breast Cancer | ARRDC3 acts as a tumor suppressor by promoting the degradation of the oncogenic receptor HER2/ErbB2. | PMID: 23251476 |
| Prostate Cancer | Loss of ARRDC3 expression correlates with increased tumor aggressiveness and metastasis. | PMID: 26030142 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Prostate | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 10.1 | Moderate expression |
| LNCaP (prostate cancer) | 7.4 | Low expression |
| HepG2 (liver cancer) | 3.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.1246G>A (p.Gly416Arg) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg339* leads to premature termination and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor binding | • protein ubiquitination |
| • negative regulation of cell proliferation | • receptor internalization |
| • cytoplasm |
Pathways
• GPCR signaling
• Ubiquitin-proteasome pathway
• ErbB signaling
Protein Summary
ARRDC3 is a 409-amino acid protein containing an N-terminal arrestin-like domain and a C-terminal PPxY motif that mediates interactions with E3 ubiquitin ligases. It localizes to the cytoplasm and plasma membrane, and regulates receptor endocytosis and degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARRDC3 Knockout HEK293 Cell Line | EDJ-KQ1095 | Human | 57561 | Details Get a Quote |
| ARRDC3 Knockout A-549 Cell Line | EDJ-KQ20262 | Human | 57561 | Details Get a Quote |
| ARRDC3 Knockout HCT 116 Cell Line | EDJ-KQ20263 | Human | 57561 | Details Get a Quote |
| ARRDC3 Knockout HeLa Cell Line | EDJ-KQ20264 | Human | 57561 | Details Get a Quote |
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