VCPIP1
gene geneOn this page
Also known as VCIP135KIAA1850FLJ23132DUBA3
Summary
VCPIP1 (valosin containing protein interacting protein 1, HGNC:30897) is a protein-coding gene on chromosome 8q13.1, encoding Deubiquitinating protein VCPIP1 (Q96JH7). Deubiquitinating enzyme involved in DNA repair and reassembly of the Golgi apparatus and the endoplasmic reticulum following mitosis. It is a selective cancer dependency (DepMap: 17.5% of cell lines).
Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination; protein-DNA covalent cross-linking repair; and regulation of protein localization to chromatin. Located in cytoplasm and nucleus.
Source: NCBI Gene 80124 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 93 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 17.5% of screened cell lines
- MANE Select transcript:
NM_025054
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30897 |
| Approved symbol | VCPIP1 |
| Name | valosin containing protein interacting protein 1 |
| Location | 8q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VCIP135, KIAA1850, FLJ23132, DUBA3 |
| Ensembl gene | ENSG00000175073 |
| Ensembl biotype | protein_coding |
| OMIM | 611745 |
| Entrez | 80124 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000310421
RefSeq mRNA: 1 — MANE Select: NM_025054
NM_025054
CCDS: CCDS6192
Canonical transcript exons
ENST00000310421 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192704 | 66651458 | 66651544 |
| ENSE00001218890 | 66628487 | 66635372 |
| ENSE00001218896 | 66664249 | 66667231 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 90.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7037 / max 210.1298, expressed in 1730 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93418 | 5.4702 | 1605 |
| 93416 | 2.2459 | 726 |
| 93417 | 1.9668 | 1017 |
| 93415 | 1.0207 | 145 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 90.74 | gold quality |
| tendon | UBERON:0000043 | 88.38 | gold quality |
| endothelial cell | CL:0000115 | 87.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.24 | gold quality |
| secondary oocyte | CL:0000655 | 85.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.42 | gold quality |
| monocyte | CL:0000576 | 82.64 | gold quality |
| leukocyte | CL:0000738 | 82.60 | gold quality |
| mononuclear cell | CL:0000842 | 82.34 | gold quality |
| oocyte | CL:0000023 | 82.03 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.79 | gold quality |
| medial globus pallidus | UBERON:0002477 | 80.77 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 80.37 | gold quality |
| cortical plate | UBERON:0005343 | 79.67 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.61 | gold quality |
| granulocyte | CL:0000094 | 78.50 | gold quality |
| colonic epithelium | UBERON:0000397 | 78.42 | gold quality |
| ventricular zone | UBERON:0003053 | 78.06 | gold quality |
| blood | UBERON:0000178 | 77.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 77.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.70 | gold quality |
| primary visual cortex | UBERON:0002436 | 77.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.93 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 76.88 | gold quality |
| ganglionic eminence | UBERON:0004023 | 76.60 | gold quality |
| muscle of leg | UBERON:0001383 | 76.31 | gold quality |
| lymph node | UBERON:0000029 | 76.14 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 75.84 | gold quality |
| globus pallidus | UBERON:0001875 | 75.39 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.23 |
| E-GEOD-106540 | no | 947.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
244 targeting VCPIP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 17.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- evidence of tyrosine phosphorylation during sperm capacitation (PMID:12509440)
- the phosphorylation of VCIP135 on Threonine-760 and Serine-767 inhibits p97-mediated Golgi membrane fusion at mitosis (PMID:23500464)
- VCIP135 phosphorylation regulates its Golgi membrane association and p97 interaction, and thus contributes to the tight control of the Golgi disassembly and reassembly process during the cell cycle. (PMID:24163436)
- Phosphorylation and ubiquitination are coordinated via VCIP135 to control Golgi membrane dynamics in the cell cycle. (PMID:25904330)
- BoNT/A catalytic light chain binds to, and is a substrate for, the ubiquitin ligase HECTD2. However, the light chain evades proteasomal degradation by the dominant effect of a deubiquitinating enzyme, VCIP135/VCPIP1. This deubiquitinating enzyme binds BoNT/A light chain directly. (PMID:28584101)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vcpip1 | ENSDARG00000060177 |
| mus_musculus | Vcpip1 | ENSMUSG00000045210 |
| rattus_norvegicus | Vcpip1 | ENSRNOG00000006980 |
Protein
Protein identifiers
Deubiquitinating protein VCPIP1 — Q96JH7 (reviewed: Q96JH7)
Alternative names: Valosin-containing protein p97/p47 complex-interacting protein 1, Valosin-containing protein p97/p47 complex-interacting protein p135
All UniProt accessions (1): Q96JH7
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinating enzyme involved in DNA repair and reassembly of the Golgi apparatus and the endoplasmic reticulum following mitosis. Necessary for VCP-mediated reassembly of Golgi stacks after mitosis. Plays a role in VCP-mediated formation of transitional endoplasmic reticulum (tER). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP. Also involved in DNA repair following phosphorylation by ATM or ATR: acts by catalyzing deubiquitination of SPRTN, thereby promoting SPRTN recruitment to chromatin and subsequent proteolytic cleavage of covalent DNA-protein cross-links (DPCs). Hydrolyzes ‘Lys-11’- and ‘Lys-48’-linked polyubiquitin chains. (Microbial infection) Regulates the duration of C.botulinum neurotoxin type A (BoNT/A) intoxication by catalyzing deubiquitination of Botulinum neurotoxin A light chain (LC), thereby preventing LC degradation by the proteasome, and accelerating botulinum neurotoxin intoxication in patients.
Subunit / interactions. Binds VCP and the ternary complex containing STX5A, NSFL1C and VCP.
Subcellular location. Nucleus. Cytoplasm. Endoplasmic reticulum. Golgi apparatus. Golgi stack.
Post-translational modifications. Phosphorylated at Ser-1207 by ATM or ATR following induction of covalent DNA-protein cross-links (DPCs).
RefSeq proteins (1): NP_079330* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003323 | OTU_dom | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR039087 | VCPIP1 | Family |
| IPR045827 | VCPIP1_N | Domain |
| IPR048857 | OTU1_Ubl | Domain |
Pfam: PF02338, PF19437, PF21403
UniProt features (91 total): helix 23, strand 21, modified residue 10, turn 10, compositionally biased region 9, region of interest 6, sequence conflict 5, active site 3, mutagenesis site 2, chain 1, domain 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9MPR | ELECTRON MICROSCOPY | 2.9 |
| 9MPS | ELECTRON MICROSCOPY | 2.9 |
| 9MPT | ELECTRON MICROSCOPY | 3.1 |
| 9MPV | ELECTRON MICROSCOPY | 3.1 |
| 9DIL | ELECTRON MICROSCOPY | 3.3 |
| 9MQ6 | ELECTRON MICROSCOPY | 3.3 |
| 8YKA | ELECTRON MICROSCOPY | 3.45 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JH7-F1 | 70.38 | 0.28 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 216; 219 (nucleophile); 354
Post-translational modifications (10): 408, 747, 757, 763, 768, 994, 998, 1077, 1198, 1207
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 219 | loss of deubiquitinating activity and ability to deubiquitinate sprtn. |
| 1207 | abolished phosphorylation in response to covalent dna-protein cross-links (dpcs). |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689896 | Ovarian tumor domain proteases |
MSigDB gene sets: 240 (showing top):
TGCGCANK_UNKNOWN, AAGTCCA_MIR422B_MIR422A, TTTGTAG_MIR520D, GOBP_MEMBRANE_FUSION, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, ATGTTAA_MIR302C, AACWWCAANK_UNKNOWN, AGTCTTA_MIR499, FOSTER_TOLERANT_MACROPHAGE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_PROTEIN_LOCALIZATION_TO_CHROMATIN, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME
GO Biological Process (12): proteolysis (GO:0006508), DNA damage response (GO:0006974), endoplasmic reticulum membrane fusion (GO:0016320), protein ubiquitination (GO:0016567), protein deubiquitination (GO:0016579), protein K11-linked deubiquitination (GO:0035871), protein K48-linked deubiquitination (GO:0071108), Golgi reassembly (GO:0090168), protein-DNA covalent cross-linking repair (GO:0106300), regulation of protein localization to chromatin (GO:1905634), DNA repair (GO:0006281), Golgi organization (GO:0007030)
GO Molecular Function (6): cysteine-type deubiquitinase activity (GO:0004843), catalytic activity (GO:0003824), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum lumen (GO:0005788), Golgi stack (GO:0005795), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| protein deubiquitination | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| protein metabolic process | 1 |
| cellular response to stress | 1 |
| endoplasmic reticulum organization | 1 |
| endoplasmic reticulum membrane organization | 1 |
| organelle membrane fusion | 1 |
| protein modification by small protein conjugation | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| Golgi organization | 1 |
| cellular component assembly | 1 |
| Golgi inheritance | 1 |
| DNA repair | 1 |
| regulation of protein localization | 1 |
| protein localization to chromatin | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| molecular_function | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| Golgi apparatus subcompartment | 1 |
Protein interactions and networks
STRING
1336 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VCPIP1 | VCP | P55072 | 951 |
| VCPIP1 | STX5 | Q13190 | 941 |
| VCPIP1 | NSFL1C | Q9UNZ2 | 875 |
| VCPIP1 | NPLOC4 | Q8TAT6 | 771 |
| VCPIP1 | BET1L | Q9NYM9 | 769 |
| VCPIP1 | UFD1 | Q92890 | 738 |
| VCPIP1 | GOLGA2 | Q08379 | 724 |
| VCPIP1 | FAF2 | Q96CS3 | 660 |
| VCPIP1 | ATXN3L | Q9H3M9 | 653 |
| VCPIP1 | ATXN3 | P54252 | 652 |
| VCPIP1 | YOD1 | Q5VVQ6 | 620 |
| VCPIP1 | OTUD6B | Q8N6M0 | 609 |
| VCPIP1 | USP7 | Q93009 | 592 |
| VCPIP1 | USP50 | Q70EL3 | 590 |
| VCPIP1 | OTUD6A | Q7L8S5 | 570 |
IntAct
123 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBXN6 | VCP | psi-mi:“MI:0914”(association) | 0.960 |
| FAF2 | VCP | psi-mi:“MI:0914”(association) | 0.870 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| UBXN1 | VCP | psi-mi:“MI:0914”(association) | 0.740 |
| UBXN8 | VCP | psi-mi:“MI:0914”(association) | 0.690 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| INSRR | INSR | psi-mi:“MI:0914”(association) | 0.650 |
| FAF1 | VCP | psi-mi:“MI:0914”(association) | 0.640 |
| TTLL1 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| PRMT2 | SAMD1 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT7 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| PLAAT5 | VCPIP1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| VCPIP1 | SPG11 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MAF1 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| CNKSR3 | COLGALT2 | psi-mi:“MI:0914”(association) | 0.530 |
| VCPIP1 | VCP | psi-mi:“MI:0914”(association) | 0.530 |
| MCL1 | PRKAG1 | psi-mi:“MI:0914”(association) | 0.530 |
| LRCH3 | LRCH2 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| S100A4 | OIP5 | psi-mi:“MI:0914”(association) | 0.530 |
| VCPIP1 | iglC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GSK3A | VCPIP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| VCPIP1 | SMAD9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIF20B | ACSL3 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3BP | CEP290 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (215): VCPIP1 (Affinity Capture-RNA), VCPIP1 (Affinity Capture-RNA), VCP (Affinity Capture-Western), VCPIP1 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), VCPIP1 (Proximity Label-MS), VCPIP1 (Proximity Label-MS), VCPIP1 (Proximity Label-MS), VCPIP1 (Proximity Label-MS), VCPIP1 (Proximity Label-MS), VCPIP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1
Diamond homologs: Q8CDG3, Q8CF97, Q96JH7
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDK1 | “down-regulates activity” | VCPIP1 | phosphorylation |
| VCPIP1 | “up-regulates activity” | VCP | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
793 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:66635222:ACAG:A | donor_gain | 1.0000 |
| 8:66635223:CAGC:C | donor_gain | 1.0000 |
| 8:66635369:ATACC:A | acceptor_loss | 1.0000 |
| 8:66635370:TACCT:T | acceptor_loss | 1.0000 |
| 8:66635371:ACCTA:A | acceptor_loss | 1.0000 |
| 8:66635222:A:AC | donor_gain | 0.9900 |
| 8:66635223:C:CC | donor_gain | 0.9900 |
| 8:66635223:CAG:C | donor_gain | 0.9900 |
| 8:66635249:TCAGG:T | donor_gain | 0.9900 |
| 8:66635269:T:TA | donor_gain | 0.9900 |
| 8:66635368:CATAC:C | acceptor_gain | 0.9900 |
| 8:66635370:TAC:T | acceptor_gain | 0.9900 |
| 8:66635374:T:G | acceptor_loss | 0.9900 |
| 8:66651451:A:C | donor_gain | 0.9900 |
| 8:66651490:C:CT | donor_gain | 0.9900 |
| 8:66651491:C:CT | donor_gain | 0.9900 |
| 8:66651493:C:A | donor_gain | 0.9900 |
| 8:66651542:CTC:C | acceptor_gain | 0.9900 |
| 8:66651544:CCTGT:C | acceptor_loss | 0.9900 |
| 8:66651545:C:CC | acceptor_gain | 0.9900 |
| 8:66651545:CTGT:C | acceptor_loss | 0.9900 |
| 8:66651546:T:A | acceptor_loss | 0.9900 |
| 8:66635189:CTT:C | donor_gain | 0.9800 |
| 8:66635191:T:TA | donor_gain | 0.9800 |
| 8:66635373:C:CC | acceptor_gain | 0.9800 |
| 8:66651452:CTATA:C | donor_loss | 0.9800 |
| 8:66651453:TATAC:T | donor_loss | 0.9800 |
| 8:66651454:ATACC:A | donor_loss | 0.9800 |
| 8:66651455:TA:T | donor_loss | 0.9800 |
| 8:66651456:A:AG | donor_loss | 0.9800 |
AlphaMissense
8011 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:66651502:A:G | F918S | 1.000 |
| 8:66651533:A:G | W908R | 1.000 |
| 8:66651533:A:T | W908R | 1.000 |
| 8:66664506:C:G | R818P | 1.000 |
| 8:66665007:A:C | I651R | 1.000 |
| 8:66665007:A:T | I651K | 1.000 |
| 8:66665019:A:T | V647D | 1.000 |
| 8:66665045:A:C | F638L | 1.000 |
| 8:66665045:A:T | F638L | 1.000 |
| 8:66665047:A:G | F638L | 1.000 |
| 8:66665057:A:C | F634L | 1.000 |
| 8:66665057:A:T | F634L | 1.000 |
| 8:66665058:A:G | F634S | 1.000 |
| 8:66665059:A:G | F634L | 1.000 |
| 8:66665070:A:T | V630D | 1.000 |
| 8:66665073:A:G | L629P | 1.000 |
| 8:66665129:G:C | F610L | 1.000 |
| 8:66665129:G:T | F610L | 1.000 |
| 8:66665131:A:G | F610L | 1.000 |
| 8:66665134:A:G | W609R | 1.000 |
| 8:66665134:A:T | W609R | 1.000 |
| 8:66665167:A:G | W598R | 1.000 |
| 8:66665167:A:T | W598R | 1.000 |
| 8:66665347:A:G | C538R | 1.000 |
| 8:66665554:A:G | C469R | 1.000 |
| 8:66665664:A:T | V432D | 1.000 |
| 8:66665827:A:G | W378R | 1.000 |
| 8:66665827:A:T | W378R | 1.000 |
| 8:66665918:C:A | W347C | 1.000 |
| 8:66665918:C:G | W347C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000182571 (8:66663182 T>C,G), RS1000310387 (8:66652574 T>C), RS1000344141 (8:66658514 G>A), RS1000357975 (8:66637843 G>T), RS1000371243 (8:66653303 A>T), RS1000444986 (8:66656355 C>T), RS1000671304 (8:66657385 C>T), RS1000919438 (8:66665236 C>T), RS1001045465 (8:66633103 T>C), RS1001075945 (8:66637507 T>C), RS1001130338 (8:66644710 A>C), RS1001277942 (8:66640099 A>T), RS1001344373 (8:66659833 G>A), RS1001348746 (8:66651672 G>A), RS1001351218 (8:66629862 G>T)
Disease associations
OMIM: gene MIM:611745 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4630849 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| daidzein | affects cotreatment, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| daidzin | increases expression, affects cotreatment | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| genistin | affects cotreatment, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| glycitein | affects cotreatment, increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| glycitin | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Clorgyline | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Plant Oils | increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4606002 | Binding | Inhibition of human GST-tagged VCPIP CD (25 to 561 residues) expressed in Escherichia coli assessed as cleavage of Ubiquitin-Rhodamine110-glycine to Ubiquitin and Rhodamine110-glycine using Ubiquitin-Rhodamine110-glycine as substrate by flu | Discovery of Potent, Selective, and Orally Bioavailable Inhibitors of USP7 with In Vivo Antitumor Activity. — J Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2KZ | Abcam HeLa VCPIP1 KO | Cancer cell line | Female |
| CVCL_F1UJ | HyCyte THP-1 KO-hVCPIP1 | Cancer cell line | Male |
| CVCL_TX35 | HAP1 VCPIP1 (-) 1 | Cancer cell line | Male |
| CVCL_TX36 | HAP1 VCPIP1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.