VCP (valosin containing protein) - Rat Genome Database

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Gene: VCP (valosin containing protein) Homo sapiens
Analyze
Symbol: VCP
Name: valosin containing protein
RGD ID: 731621
HGNC Page HGNC:12666
Description: Enables several functions, including ATP hydrolysis activity; enzyme binding activity; and modification-dependent protein binding activity. Involved in several processes, including DNA repair; ERAD pathway; and positive regulation of nitrogen compound metabolic process. Located in several cellular components, including VCP-NPL4-UFD1 AAA ATPase complex; cytoplasmic stress granule; and site of double-strand break. Part of Derlin-1 retrotranslocation complex and proteasome complex. Is active in endoplasmic reticulum membrane. Implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; frontotemporal dementia and/or amyotrophic lateral sclerosis-6; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 15S Mg(2+)-ATPase p97 subunit; ALS14; CDC48; CMT2Y; epididymis luminal protein 220; epididymis secretory protein Li 70; FTDALS6; HEL-220; HEL-S-70; IBMPFD; IBMPFD1; MGC131997; MGC148092; MGC8560; p97; TER ATPase; TERA; transitional endoplasmic reticulum ATPase; valosin-containing protein; yeast Cdc48p homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,056,064 - 35,072,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,053,928 - 35,072,668 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,056,061 - 35,072,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,046,560 - 35,062,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 34935,046,560 - 35,062,564NCBI
Celera934,988,041 - 35,004,706 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,011,651 - 35,028,327 (-)NCBIHuRef
CHM1_1935,055,907 - 35,072,605 (-)NCBICHM1_1
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcidiol  (ISO)
ceruletide  (ISO)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
chlorpyrifos  (ISO)
chromium trinitrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hyaluronic acid  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (ISO)
isoflavones  (ISO)
ivermectin  (EXP)
L-serine  (EXP)
lactacystin  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
lycopene  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP,ISO)
prostaglandin A1  (ISO)
quartz  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
taurine  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aggresome assembly  (IEA,ISO)
ATP metabolic process  (IEA)
autophagosome maturation  (IBA,IMP)
autophagy  (IEA,IMP)
cellular response to arsenite ion  (IMP)
cellular response to heat  (IMP)
DNA damage response  (IDA,IEA)
DNA repair  (IEA,NAS)
double-strand break repair  (IDA)
endoplasmic reticulum stress-induced pre-emptive quality control  (IMP)
endoplasmic reticulum to Golgi vesicle-mediated transport  (IEA,ISO)
endoplasmic reticulum unfolded protein response  (TAS)
endosome to lysosome transport via multivesicular body sorting pathway  (IMP)
ER-associated misfolded protein catabolic process  (IBA,IMP)
ERAD pathway  (IDA,IMP)
establishment of protein localization  (TAS)
flavin adenine dinucleotide catabolic process  (IMP)
interstrand cross-link repair  (ISS)
macroautophagy  (IMP)
mitotic spindle disassembly  (IBA)
NADH metabolic process  (IMP)
negative regulation of protein localization to chromatin  (IDA)
negative regulation of smoothened signaling pathway  (IMP)
organelle organization  (IEA)
positive regulation of ATP biosynthetic process  (IMP)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of mitochondrial membrane potential  (IEA,IMP)
positive regulation of oxidative phosphorylation  (IMP)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
positive regulation of protein catabolic process  (IDA)
positive regulation of protein K63-linked deubiquitination  (IDA)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of ubiquitin-dependent protein catabolic process  (IEA,ISO)
proteasomal protein catabolic process  (IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA,IMP,NAS)
protein ubiquitination  (IDA,NAS)
protein-DNA covalent cross-linking repair  (IDA)
regulation of aerobic respiration  (IMP)
regulation of apoptotic process  (TAS)
regulation of protein localization to chromatin  (IDA)
regulation of synapse organization  (IEA)
retrograde protein transport, ER to cytosol  (IBA,IDA,IEA,IMP,ISO)
stress granule disassembly  (IDA,IMP)
translesion synthesis  (IMP)
ubiquitin-dependent ERAD pathway  (IBA,IDA,IMP,ISO,TAS)
ubiquitin-dependent protein catabolic process  (IEA,ISO)
viral genome replication  (IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal long bone morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormal motor neuron morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the musculature of the lower limbs  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abolished vibration sense  (IAGP)
Absent Achilles reflex  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Ankle clonus  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Arthralgia  (IAGP)
Astrocytosis  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bone pain  (IAGP)
Bowel incontinence  (IAGP)
Brain atrophy  (IAGP)
Brain neoplasm  (IAGP)
Brisk reflexes  (IAGP)
Broad-based gait  (IAGP)
Bulbar palsy  (IAGP)
Calvarial hyperostosis  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Collectionism  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Deficit in grammar  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Disinhibition  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
Echolalia  (IAGP)
EEG with continuous slow activity  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
EMG: myopathic abnormalities  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional blunting  (IAGP)
Emotional lability  (IAGP)
Expressive aphasia  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Frontal cortical atrophy  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized muscle weakness  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hepatic steatosis  (IAGP)
Hip pain  (IAGP)
Hyperlordosis  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Impaired distal tactile sensation  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired tactile sensation  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inappropriate behavior  (IAGP)
Increased spinal bone density  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Irritability  (IAGP)
Lack of insight  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Late young adult onset  (IAGP)
Lewy bodies  (IAGP)
Limb fasciculations  (IAGP)
Limb muscle weakness  (IAGP)
Limited knee flexion  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Lumbar hyperlordosis  (IAGP)
Manifestations of perseverative thought or action  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Nausea and vomiting  (IAGP)
Necrotizing myopathy  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in the cerebral cortex  (IAGP)
Osteolysis  (IAGP)
Paget disease of bone  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Paraparesis  (IAGP)
Paresthesia  (IAGP)
Parkinsonism  (IAGP)
Pathologic fracture  (IAGP)
Pelvic girdle amyotrophy  (IAGP)
Pelvic girdle muscle atrophy  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Personality changes  (IAGP)
Pes cavus  (IAGP)
Poor fine motor coordination  (IAGP)
Poor speech  (IAGP)
Progressive  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Quadriceps muscle weakness  (IAGP)
Recurrent fractures  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Senile plaques  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short stature  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Spoken word recognition deficit  (IAGP)
Steppage gait  (IAGP)
Stroke  (IAGP)
Supranuclear gaze palsy  (IAGP)
Temporal cortical atrophy  (IAGP)
Tetraparesis  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tip-toe gait  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Ubiquitin-positive cerebral inclusion bodies  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Waddling gait  (IAGP)
Weakness due to upper motor neuron dysfunction  (IAGP)
Weakness of muscles of respiration  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
Xerostomia  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Oestrogen receptor-beta CA repeat polymorphism is associated with incidence of colorectal cancer among females. Honma N, etal., Histopathology. 2011 Aug;59(2):216-24. doi: 10.1111/j.1365-2559.2011.03914.x.
3. The ESR2 AluI 1730G>A (rs4986938) gene polymorphism is associated with fibrinogen plasma levels in postmenopausal women. Marini H, etal., Gene. 2012 Oct 25;508(2):206-10. doi: 10.1016/j.gene.2012.08.004. Epub 2012 Aug 11.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Double-strand break repair: 53BP1 comes into focus. Panier S and Boulton SJ, Nat Rev Mol Cell Biol. 2014 Jan;15(1):7-18. doi: 10.1038/nrm3719. Epub 2013 Dec 11.
6. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Watts GD, etal., Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21.
Additional References at PubMed
PMID:1602151   PMID:7553851   PMID:8413590   PMID:8595912   PMID:8889548   PMID:9286697   PMID:9321476   PMID:9452483   PMID:9506515   PMID:10350210   PMID:10364224   PMID:10855792  
PMID:10930447   PMID:10931946   PMID:11087817   PMID:11252708   PMID:11483959   PMID:11689694   PMID:11913976   PMID:11927012   PMID:12351637   PMID:12473691   PMID:12477932   PMID:12504076  
PMID:12504083   PMID:12509440   PMID:12529442   PMID:12560433   PMID:12663780   PMID:12665801   PMID:12807884   PMID:12810701   PMID:12937274   PMID:12944474   PMID:14532270   PMID:14743216  
PMID:14749733   PMID:14760088   PMID:15037256   PMID:15161933   PMID:15189447   PMID:15215856   PMID:15331598   PMID:15362974   PMID:15371428   PMID:15452376   PMID:15456787   PMID:15588985  
PMID:15592455   PMID:15723043   PMID:15732117   PMID:15743842   PMID:15752563   PMID:15883021   PMID:15932873   PMID:15952740   PMID:16009940   PMID:16027165   PMID:16051665   PMID:16130169  
PMID:16140914   PMID:16159877   PMID:16168377   PMID:16186509   PMID:16186510   PMID:16196087   PMID:16212419   PMID:16234241   PMID:16236267   PMID:16247064   PMID:16275660   PMID:16289116  
PMID:16306228   PMID:16344560   PMID:16386250   PMID:16407162   PMID:16449189   PMID:16461343   PMID:16513638   PMID:16525503   PMID:16551632   PMID:16601695   PMID:16621797   PMID:16723740  
PMID:16783167   PMID:16807242   PMID:16822850   PMID:16901789   PMID:16914519   PMID:16954204   PMID:16966435   PMID:16968747   PMID:16987818   PMID:17110338   PMID:17141156   PMID:17200190  
PMID:17220478   PMID:17272822   PMID:17311810   PMID:17314412   PMID:17346713   PMID:17353931   PMID:17368566   PMID:17457594   PMID:17493577   PMID:17525332   PMID:17550899   PMID:17618707  
PMID:17620599   PMID:17622780   PMID:17626287   PMID:17681147   PMID:17683050   PMID:17763460   PMID:17872946   PMID:17889967   PMID:17907600   PMID:17935506   PMID:18022694   PMID:18029348  
PMID:18044963   PMID:18048502   PMID:18160415   PMID:18166610   PMID:18199748   PMID:18216283   PMID:18261755   PMID:18279508   PMID:18341608   PMID:18400946   PMID:18544453   PMID:18550891  
PMID:18586029   PMID:18654987   PMID:18656546   PMID:18675248   PMID:18706391   PMID:18711132   PMID:18775313   PMID:18811591   PMID:18835813   PMID:19056867   PMID:19164805   PMID:19174149  
PMID:19175675   PMID:19193609   PMID:19208399   PMID:19237541   PMID:19240031   PMID:19275885   PMID:19286132   PMID:19356220   PMID:19364651   PMID:19506019   PMID:19570996   PMID:19615732  
PMID:19704082   PMID:19730691   PMID:19738201   PMID:19815544   PMID:19815549   PMID:19818707   PMID:19822669   PMID:19826004   PMID:19828134   PMID:19828315   PMID:19843543   PMID:19887378  
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