VCPIP1
VCP interacting protein 1; deubiquitinating enzyme involved in protein quality control and cell cycle regulation
Gene Information Card
| Symbol | VCPIP1 |
|---|---|
| Full Name | VCP interacting protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 80124 ncbi.nlm.nih.gov/gene/80124 |
| Ensembl ID | ENSG00000104760 |
| UniProt ID | Q96JH7 |
| OMIM ID | 611241 |
| HGNC ID | 28979 |
| Aliases | VCIP135, DUBA-3, VCPIP, KIAA1856 |
Description
VCPIP1 (VCP interacting protein 1) encodes a deubiquitinating enzyme (DUB) that specifically interacts with valosin-containing protein (VCP/p97). It functions as a ubiquitin-specific protease (USP) involved in the disassembly of the VCP/p97 complex, protein quality control, endoplasmic reticulum-associated degradation (ERAD), and cell cycle regulation. The protein localizes to the cytoplasm and nucleus and is essential for Golgi reassembly after mitosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain anomalies | Loss-of-function mutations impair VCP-mediated protein homeostasis, leading to neuronal dysfunction | ClinVar; PMID: 31585110 |
| Cancer (various) | Altered expression may affect cell cycle progression and DNA damage response | COSMIC; TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
| A549 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.1024G>A (p.Gly342Arg) | Missense | <0.01% | Likely damaging; disrupts DUB activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or abolish catalytic activity are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for VCPIP1.
Dominant Negative (DN)
Missense mutations in the catalytic domain may act in a dominant-negative manner by interfering with VCP binding.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein binding | • VCP binding |
| • cytoplasm | • nucleus |
| • Golgi apparatus | • protein deubiquitination |
| • cell cycle | • ERAD pathway |
Pathways
• VCP/p97-mediated protein degradation
• Endoplasmic reticulum-associated degradation (ERAD)
• Golgi reassembly
Protein Summary
VCPIP1 is a 135 kDa deubiquitinating enzyme that interacts with VCP/p97. It removes ubiquitin chains from substrates, facilitating VCP recycling and Golgi membrane fusion after mitosis. The protein contains an N-terminal UBX domain for VCP binding and a C-terminal USP domain for catalytic activity. It is widely expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCPIP1 Knockout HEK293 Cell Line | EDJ-KQ3520 | Human | 80124 | Details Get a Quote |
| VCPIP1 Knockout A-549 Cell Line | EDJ-KQ23971 | Human | 80124 | Details Get a Quote |
| VCPIP1 Knockout HCT 116 Cell Line | EDJ-KQ25349 | Human | 80124 | Details Get a Quote |
| VCPIP1 Knockout HeLa Cell Line | EDJ-KQ25350 | Human | 80124 | Details Get a Quote |
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