Free for academic non-profit institutions. Other users need a Commercial license

Aliases for VCP Gene

Aliases for VCP Gene

  • Valosin Containing Protein 2 3 5
  • 15S Mg(2+)-ATPase P97 Subunit 3 4
  • Valosin-Containing Protein 2 4
  • TER ATPase 3 4
  • Transitional Endoplasmic Reticulum ATPase 3
  • 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 Transport to the Golgi and subsequent modification and Immune System. 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. Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy (PubMed:20104022).

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F035078 0.6 ENCODE 21.3 -6.2 -6205 2.8 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 KLF13 VCP FANCG CCL21 STOML2 FAM214B PIR34260
GH09F034999 0.8 Ensembl ENCODE 20.7 +72.2 72221 3.0 HDAC1 PKNOX1 GATA2 ETV6 FOS CREM ZBTB11 CEBPB JUNB ELF1 VCP FANCG C9orf131 PHF24 ENSG00000234181 PIGO STOML2 ENSG00000279489 GC09P034997
GH09F035069 0.4 ENCODE 17.4 +1.4 1355 4.1 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS VCP FANCG RECK ENSG00000228352 ENSG00000230074 PIGO RN7SL338P
GH09F034987 1.1 FANTOM5 ENCODE 12.3 +80.0 79970 10.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 FOS FANCG YBX1P10 CCL21 VCP PIGO RGP1 DNAJB5 RPP25L FAM205C IL11RA
GH09F034986 1 FANTOM5 ENCODE 12.3 +86.3 86320 1.2 MAZ MXI1 RFX1 BMI1 ZBTB40 ZFHX2 EGR1 MYNN IKZF1 EED VCP PIGO DNAJB5 FAM214B PIR62069
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001302750 1249 2401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS

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. Interacts (via the PIM motif) with RNF31 (via the PUB domain) (PubMed:24726327).

    Three dimensional structures from OCA and Proteopedia for VCP Gene

neXtProt entry for VCP Gene

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 :
  • The PIM (PUB-interaction motif) motif mediates interaction with the PUB domain of RNF31.
  • Belongs to the AAA ATPase family.
Domain:
  • The PIM (PUB-interaction motif) motif mediates interaction with the PUB domain of RNF31.
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. Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy (PubMed:20104022).

Enzyme Numbers (IUBMB) for VCP Gene

Gene Ontology (GO) - Molecular Function for VCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 9452483
GO:0005524 ATP binding IEA --
GO:0008289 lipid binding IEA --
GO:0016787 hydrolase activity IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VCP

Flow Cytometry Products

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:0000502 proteasome complex IDA 9452483
GO:0005634 nucleus TAS 16130169
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IEA,IDA 15215856
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

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 16140914
GO:0006302 double-strand break repair IDA 10855792
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006734 NADH metabolic process IMP 23498975
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with VCP: view

Drugs & Compounds for VCP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
CB-5083 Pharma p97 inhibitor 0

(5) 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

(3) ApexBio Compounds for VCP Gene

Compound Action Cas Number
CB-5083 p97 inhibitor 1542705-92-9
DBeQ P97 ATPase inhibitor 177355-84-9
NMS-873 VCP/p97 inhibitor,selective and allosteric 1418013-75-8
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VCP

Flow Cytometry Products

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, MaxQB, and MOPED for VCP Gene



Protein tissue co-expression partners for VCP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VCP Gene:

VCP

SOURCE GeneReport for Unigene cluster for VCP Gene:

Hs.529782
genes like me logo Genes that share expression patterns with VCP: view

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
chimpanzee
(Pan troglodytes)
Mammalia VCP 34 35
  • 99.34 (n)
oppossum
(Monodelphis domestica)
Mammalia VCP 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VCP 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VCP 34 35
  • 93.59 (n)
cow
(Bos Taurus)
Mammalia VCP 34 35
  • 92.89 (n)
rat
(Rattus norvegicus)
Mammalia Vcp 34
  • 91.81 (n)
mouse
(Mus musculus)
Mammalia Vcp 34 16 35
  • 91.52 (n)
chicken
(Gallus gallus)
Aves VCP 34 35
  • 83.91 (n)
lizard
(Anolis carolinensis)
Reptilia VCP 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vcp 34
  • 80.99 (n)
Str.1287 34
African clawed frog
(Xenopus laevis)
Amphibia vcp-prov 34
zebrafish
(Danio rerio)
Actinopterygii vcp 34 35
  • 80.81 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9204 34
fruit fly
(Drosophila melanogaster)
Insecta TER94 36 34 35
  • 73.35 (n)
BG:DS06874.3 36
  • 33 (a)
CG12010 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005630 34
  • 70.33 (n)
worm
(Caenorhabditis elegans)
Secernentea cdc-48.1 35
  • 77 (a)
OneToMany
C06A1.1 36
  • 75 (a)
cdc-48.2 34 35
  • 68.31 (n)
K04D7.2a 36
  • 38 (a)
K04D7.2b 36
  • 38 (a)
prx-1 36
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC48 34 35
  • 63.99 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR158W 34
  • 63.87 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05676g 34
  • 62.69 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G03340 34
  • 69.96 (n)
soybean
(Glycine max)
eudicotyledons Gma.4013 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7531 34
rice
(Oryza sativa)
Liliopsida Os03g0151800 34
  • 71.16 (n)
Os.4689 34
barley
(Hordeum vulgare)
Liliopsida Hv.848 34
wheat
(Triticum aestivum)
Liliopsida Ta.28850 34
corn
(Zea mays)
Liliopsida Zm.1177 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7152 35
  • 82 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00018 34
  • 67.33 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc48 34
  • 64.21 (n)
Species where no ortholog for VCP was found in the sources mined by GeneCards:
  • 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
rs121909329 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954], Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Pathogenic 35,065,363(-) TGTCC(A/C/G)TGGTG reference, missense
rs121909330 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Pathogenic 35,065,364(-) TTGTC(C/T)GTGGT reference, missense
rs121909331 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Pathogenic 35,064,167(-) TAAGG(A/C)AATTG reference, missense
rs121909332 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Pathogenic 35,067,910(-) GTGTA(C/G/T)GCCTA reference, missense
rs121909334 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954], Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320], Pathogenic 35,065,255(-) CAAAC(A/G)AGAGG reference, missense

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

Variant ID Type Subtype PubMed ID
esv3620367 CNV gain 21293372
nsv1115172 CNV deletion 24896259
nsv1125318 OTHER inversion 24896259

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VCP

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

Disorders for VCP Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search VCP in MalaCards View complete list of genes associated with diseases

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.
  • Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:25125609, ECO:0000269 PubMed:25878907}. 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, ECO:0000269 PubMed:20104022, ECO:0000269 PubMed:25125609, ECO:0000269 PubMed:25878907, ECO:0000269 PubMed:27209344}. 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. 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 4 22 64
  2. Exome sequencing reveals VCP mutations as a cause of familial ALS. (PMID: 21145000) Johnson J.O. … Traynor B.J. (Neuron 2010) 3 4 46 64
  3. No association of common VCP variants with sporadic frontotemporal dementia. (PMID: 17618707) Schumacher A. … Riemenschneider M. (Neurobiol. Aging 2009) 3 22 46 64
  4. Ubxd1 is a novel co-factor of the human p97 ATPase. (PMID: 18656546) Madsen L. … Hartmann-Petersen R. (Int. J. Biochem. Cell Biol. 2008) 3 4 22 64
  5. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. (PMID: 15732117) Schroeder R. … Thal D.R. (Ann. Neurol. 2005) 3 4 22 64

Products for VCP Gene

  • Addgene plasmids for VCP

Sources for VCP Gene

Content
Loading form....