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Aliases for VCP Gene

Aliases for VCP Gene

  • Valosin Containing Protein 2 3 5
  • Valosin-Containing Protein 2 3 4
  • 15S Mg(2+)-ATPase P97 Subunit 3 4
  • TER ATPase 3 4
  • Epididymis Secretory Protein Li 70 3
  • Epididymis Luminal Protein 220 3
  • Yeast Cdc48p Homolog 3
  • EC 3.6.4.6 4
  • HEL-S-70 3
  • HEL-220 3
  • IBMPFD1 3
  • IBMPFD 3
  • ALS14 3
  • CMT2Y 3
  • TERA 3
  • P97 3

External Ids for VCP Gene

Previous GeneCards Identifiers for VCP Gene

  • GC09M035368
  • GC09M035225
  • GC09M035046
  • GC09M035011

Summaries for VCP Gene

Entrez Gene Summary for VCP Gene

  • The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq, Jul 2008]

GeneCards Summary for VCP Gene

VCP (Valosin Containing Protein) is a Protein Coding gene. Diseases associated with VCP include Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 1 and Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and IL-7 Signaling Pathways. GO annotations related to this gene include poly(A) RNA binding and receptor binding. An important paralog of this gene is SPATA5L1.

UniProtKB/Swiss-Prot for VCP Gene

  • Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites. Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage. Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation.

Gene Wiki entry for VCP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VCP Gene

Genomics for VCP Gene

Regulatory Elements for VCP Gene

Enhancers for VCP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VCP on UCSC Golden Path with GeneCards custom track

Promoters for VCP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VCP on UCSC Golden Path with GeneCards custom track

Genomic Location for VCP Gene

Chromosome:
9
Start:
35,056,064 bp from pter
End:
35,073,249 bp from pter
Size:
17,186 bases
Orientation:
Minus strand

Genomic View for VCP Gene

Genes around VCP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VCP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VCP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VCP Gene

Proteins for VCP Gene

  • Protein details for VCP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55072-TERA_HUMAN
    Recommended name:
    Transitional endoplasmic reticulum ATPase
    Protein Accession:
    P55072
    Secondary Accessions:
    • B2R5T8
    • Q0V924
    • Q2TAI5
    • Q969G7
    • Q9UCD5

    Protein attributes for VCP Gene

    Size:
    806 amino acids
    Molecular mass:
    89322 Da
    Quaternary structure:
    • Homohexamer. Forms a ring-shaped particle of 12.5 nm diameter, that displays 6-fold radial symmetry. Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Binds to a heterodimer of NPLOC4 and UFD1L, binding to this heterodimer inhibits Golgi-membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Part of a ternary complex containing NPLOC4, UFD1L and VCP. Interacts with NSFL1C-like protein p37; the complex has membrane fusion activity and is required for Golgi and endoplasmic reticulum biogenesis. Interacts with VIMP/SELS and SYVN1, as well as with DERL1, DERL2 and DERL3; which probably transfer misfolded proteins from the ER to VCP. Interacts with SVIP. Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Directly interacts with UBXN4 and RNF19A. Interacts with CASR. Interacts with UBXN6, UBE4B and YOD1. Interacts with clathrin. Interacts with RNF103. Interacts with TRIM13 and TRIM21. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of the endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Interacts directly with AMFR/gp78 (via its VIM). Interacts with RHBDD1 (via C-terminal domain). Interacts with SPRTN; leading to recruitment to stalled replication forks. Part of a complex which includes CANX, DERL1, DERL2, DDOST/OST48, RPN1, RPN2, SELK, STT3A, VCP AND VIMP. Interacts with KIAA0196. Interacts with UBOX5. Interacts (via N-terminus) with UBXN7, UBXN8, and probably several other UBX domain-containing proteins (via UBX domains); the interactions are mutually exclusive with VIM-dependent interactions such as those with AMFR and VIMP. Forms a complex with UBQLN1 and UBXN4.

    Three dimensional structures from OCA and Proteopedia for VCP Gene

neXtProt entry for VCP Gene

Proteomics data for VCP Gene at MOPED

Post-translational modifications for VCP Gene

  • ISGylated.
  • Methylation at Lys-315 catalyzed by VCPKMT is increased in the presence of ASPSCR1. Lys-315 methylation may decrease ATPase activity.
  • Phosphorylated by tyrosine kinases in response to T-cell antigen receptor activation.
  • Ubiquitination at Lys 60, Lys 81, Lys 109, Lys 148, Lys 217, Lys 231, Lys 251, Lys 288, Lys 295, Lys 312, Lys 336, Lys 386, Lys 486, Lys 502, Lys 505, Lys 512, Lys 524, Lys 529, Lys 584, Lys 651, Lys 658, Lys 668, Lys 696, and Lys 754
  • Modification sites at PhosphoSitePlus

Other Protein References for VCP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VCP (VCP)
  • Abcam antibodies for VCP

No data available for DME Specific Peptides for VCP Gene

Domains & Families for VCP Gene

Gene Families for VCP Gene

Graphical View of Domain Structure for InterPro Entry

P55072

UniProtKB/Swiss-Prot:

TERA_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with VCP: view

Function for VCP Gene

Molecular function for VCP Gene

GENATLAS Biochemistry:
valosin-containing protein,bound with high affinity to clathrin
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites. Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage. Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation.

Enzyme Numbers (IUBMB) for VCP Gene

Gene Ontology (GO) - Molecular Function for VCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 9452483
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IEA,TAS 15215856
GO:0031593 polyubiquitin binding IEA,IDA 11483959
genes like me logo Genes that share ontologies with VCP: view
genes like me logo Genes that share phenotypes with VCP: view

Human Phenotype Ontology for VCP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VCP Gene

MGI Knock Outs for VCP:

Animal Model Products

  • Taconic Biosciences Mouse Models for VCP

No data available for Transcription Factor Targets and HOMER Transcription for VCP Gene

Localization for VCP Gene

Subcellular locations from UniProtKB/Swiss-Prot for VCP Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Nucleus. Note=Present in the neuronal hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients. Present in the Lewy bodies specifically found in neurons from Parkinson disease patients. Recruited to the cytoplasmic surface of the endoplasmic reticulum via interaction with AMFR/gp78. Following DNA double-strand breaks, recruited to the sites of damage. Recruited to stalled replication forks via interaction with SPRTN.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VCP Gene COMPARTMENTS Subcellular localization image for VCP gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
nucleus 5
cytoskeleton 2
lysosome 2
mitochondrion 2
plasma membrane 2
vacuole 2
endosome 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for VCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005811 lipid particle IDA 23297223
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with VCP: view

Pathways & Interactions for VCP Gene

genes like me logo Genes that share pathways with VCP: view

Pathways by source for VCP Gene

1 GeneTex pathway for VCP Gene
2 Cell Signaling Technology pathways for VCP Gene
1 BioSystems pathway for VCP Gene

SIGNOR curated interactions for VCP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair NAS,TAS 16140914
GO:0006734 NADH metabolic process IMP 23498975
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 16140914
GO:0010918 positive regulation of mitochondrial membrane potential IEA,IMP 23498975
genes like me logo Genes that share ontologies with VCP: view

Drugs & Compounds for VCP Gene

(11) Drugs for VCP Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
DBeQ Pharma P97 ATPase inhibitor 0

(8) Additional Compounds for VCP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5

(1) ApexBio Compounds for VCP Gene

Compound Action Cas Number
DBeQ P97 ATPase inhibitor 177355-84-9
genes like me logo Genes that share compounds with VCP: view

Transcripts for VCP Gene

Unigene Clusters for VCP Gene

Valosin containing protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VCP Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - -
SP2:
SP3: - - - - -
SP4:
SP5: - - - - -
SP6: - - -
SP7:

ExUns: 16 ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for VCP Gene

GeneLoc Exon Structure for
VCP
ECgene alternative splicing isoforms for
VCP

Expression for VCP Gene

mRNA expression in normal human tissues for VCP Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VCP Gene



SOURCE GeneReport for Unigene cluster for VCP Gene Hs.529782

genes like me logo Genes that share expression patterns with VCP: view

Protein tissue co-expression partners for VCP Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for VCP Gene

Orthologs for VCP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VCP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VCP 35
  • 92.89 (n)
  • 99.75 (a)
VCP 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VCP 35
  • 93.59 (n)
  • 99.88 (a)
VCP 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vcp 35
  • 91.52 (n)
  • 100 (a)
Vcp 16
Vcp 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VCP 35
  • 99.34 (n)
  • 100 (a)
VCP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vcp 35
  • 91.81 (n)
  • 99.88 (a)
oppossum
(Monodelphis domestica)
Mammalia VCP 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VCP 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves VCP 35
  • 83.91 (n)
  • 99.01 (a)
VCP 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VCP 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1287 35
vcp 35
  • 80.99 (n)
  • 97.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia vcp-prov 35
zebrafish
(Danio rerio)
Actinopterygii vcp 35
  • 80.81 (n)
  • 96.77 (a)
vcp 36
  • 97 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9204 35
fruit fly
(Drosophila melanogaster)
Insecta BG:DS06874.3 37
  • 33 (a)
CG12010 37
  • 31 (a)
TER94 37
  • 82 (a)
TER94 35
  • 73.35 (n)
  • 85.38 (a)
TER94 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005630 35
  • 70.33 (n)
  • 84.37 (a)
worm
(Caenorhabditis elegans)
Secernentea C06A1.1 37
  • 75 (a)
K04D7.2a 37
  • 38 (a)
K04D7.2b 37
  • 38 (a)
prx-1 37
  • 29 (a)
cdc-48.2 35
  • 68.31 (n)
  • 80.88 (a)
cdc-48.1 36
  • 77 (a)
OneToMany
cdc-48.2 36
  • 78 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR158W 35
  • 63.87 (n)
  • 72.22 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05676g 35
  • 62.69 (n)
  • 68.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC48 35
  • 63.99 (n)
  • 71.63 (a)
CDC48 36
  • 67 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G03340 35
  • 69.96 (n)
  • 80.13 (a)
soybean
(Glycine max)
eudicotyledons Gma.4013 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7531 35
barley
(Hordeum vulgare)
Liliopsida Hv.848 35
rice
(Oryza sativa)
Liliopsida Os.4689 35
Os03g0151800 35
  • 71.16 (n)
  • 80.42 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28850 35
corn
(Zea mays)
Liliopsida Zm.1177 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00018 35
  • 67.33 (n)
  • 73.91 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc48 35
  • 64.21 (n)
  • 71.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7152 36
  • 82 (a)
OneToOne
Species with no ortholog for VCP:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for VCP Gene

ENSEMBL:
Gene Tree for VCP (if available)
TreeFam:
Gene Tree for VCP (if available)

Paralogs for VCP Gene

Paralogs for VCP Gene

genes like me logo Genes that share paralogs with VCP: view

Variants for VCP Gene

Sequence variations from dbSNP and Humsavar for VCP Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_033016 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
VAR_033017 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
VAR_033018 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)
VAR_033018 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
VAR_033019 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)

Structural Variations from Database of Genomic Variants (DGV) for VCP Gene

Variant ID Type Subtype PubMed ID
nsv893043 CNV Gain 21882294

Variation tolerance for VCP Gene

Residual Variation Intolerance Score: 7.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VCP Gene

Human Gene Mutation Database (HGMD)
VCP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VCP Gene

Disorders for VCP Gene

MalaCards: The human disease database

(34) MalaCards diseases for VCP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

TERA_HUMAN
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS14 may develop frontotemporal dementia. {ECO:0000269 PubMed:21145000}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269 PubMed:15034582, ECO:0000269 PubMed:15732117, ECO:0000269 PubMed:16247064}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VCP

Genetic Association Database (GAD)
VCP
Human Genome Epidemiology (HuGE) Navigator
VCP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VCP
genes like me logo Genes that share disorders with VCP: view

No data available for Genatlas for VCP Gene

Publications for VCP Gene

  1. Exome sequencing reveals VCP mutations as a cause of familial ALS. (PMID: 21145000) Johnson J.O. … Traynor B.J. (Neuron 2010) 3 4 48 67
  2. An NSF-like ATPase, p97, and NSF mediate cisternal regrowth from mitotic Golgi fragments. (PMID: 7553851) Rabouille C. … Warren G. (Cell 1995) 2 3 23
  3. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. (PMID: 8595912) Druck T. … Keen J.H. (Genomics 1995) 2 3 23
  4. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. (PMID: 20104022) Tresse E. … Taylor J.P. (Autophagy 2010) 3 23
  5. Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (PMID: 20116073) Kottlors M. … Kirschner J. (J. Neurol. Sci. 2010) 3 23

Products for VCP Gene

  • Addgene plasmids for VCP

Sources for VCP Gene

Content