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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VCP Gene

protein-coding   GIFtS: 67
GCID: GC09M035056

valosin containing protein

(Previous name: valosin-containing protein )
 Explore 68 diseases affiliated with
VCP via our new
 Human Malady Compendium 
Biological research products
for VCP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Valosin Containing Protein1 2     ALS142
Valosin-Containing Protein1 2 3     TERA2
IBMPFD1 2 5     Transitional Endoplasmic Reticulum ATPase2
P971     Yeast Cdc48p Homolog2
15S Mg(2+)-ATPase P97 Subunit2 3     EC 3.6.4.63
TER ATPase2 3     

External Ids:    HGNC: 126661   Entrez Gene: 74152   Ensembl: ENSG000001652807   OMIM: 6010235   UniProtKB: P550723   

Export aliases for VCP gene to outside databases

Previous GC identifers: GC09M035368 GC09M035225 GC09M035046 GC09M035011


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VCP:
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)

UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
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 (By similarity). 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

Gene Wiki entry for VCP (Valosin-containing protein)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VCP gene promoter:
         GR   Pax-5   RREB-1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   CREB   deltaCREB   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): VCP promoter sequence
   Search SABiosciences Chromatin IP Primers for VCP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VCP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

VCP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VCP gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035056:  view genomic region     (about GC identifiers)

Start:
35,056,061 bp from pter      End:
35,073,246 bp from pter
Size:
17,186 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TERA_HUMAN, P55072 (See protein sequence)
Recommended Name: Transitional endoplasmic reticulum ATPase  
Size: 806 amino acids; 89322 Da
Subunit: 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 (By similarity). 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 UBXD2 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-terminus domain). Interacts with METTL21D. Interacts with SPRTN; leading to recruitment to stalled
replication forks
Subcellular location: 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
Caution: It is unclear how it participates to the recruitment of TP53BP1 at DNA damage sites. According to a first
report, participates in the recruitment of TP53BP1 by promoting ubiquitination and removal of L3MBTL1 from DNA damage
sites (PubMed:22120668). According to a second report, it acts by removing 'Lys-48'-linked ubiquitination from sites
of DNA damage (PubMed:22020440)
6/9 PDB 3D structures from and Proteopedia for VCP (see all 9):
3EBB (3D)        3HU1 (3D)        3HU2 (3D)        3HU3 (3D)        3QC8 (3D)        3QQ7 (3D)    
Secondary accessions: B2R5T8 Q0V924 Q2TAI5 Q969G7 Q9UCD5

Explore the universe of human proteins at neXtProt for VCP: NX_P55072

Post-translational modifications:

  • Phosphorylated by tyrosine kinases in response to T-cell antigen receptor activation (By similarity)1
  • ISGylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55072

  • VCP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_009057.1  
    ENSEMBL proteins: 
     ENSP00000351777   ENSP00000392088   ENSP00000399456  

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    Uscn Proteins for VCP

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IDA9452483
    GO:0005634nucleus TAS16130169
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA15215856


    VCP for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VCP


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    VCP for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR004201 Cdc48_dom2
     IPR015415 Vps4_C
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P55072

    ProtoNet protein and cluster: P55072

    2 Blocks protein families:
    IPB003338 AAA ATPase VAT
    IPB003960 AAA-protein subdomain


    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
    Similarity: Belongs to the AAA ATPase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
    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 (By similarity). 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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for VCP:
    valosin-containing protein,bound with high affinity to clathrin

    Enzyme Number (IUBMB): EC 3.6.4.61

    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate VCP (see all 41):
    hsa-miR-136 hsa-miR-1321 hsa-miR-3938 hsa-miR-4315 hsa-miR-624 hsa-miR-519a hsa-miR-507 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidVCP 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IEA--
    GO:0005515protein binding IPI18775313
    GO:0005524ATP binding IEA--
    GO:0008289lipid binding IEA--
    GO:0016887ATPase activity TAS15215856


    VCP for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for VCP:
     Cell division defect  Decreased TP53 protein express  Decreased homologous recombina  Decreased viability of wild-ty 
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Vcptm1.1Dts for VCP
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Vcp):
     behavior/neurological  cellular  hematopoietic system  immune system  mortality/aging 
     muscle  nervous system  skeleton 

    VCP for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of degradation of wt-CFTR
    Regulation of degradation of wt-CFTR1.00
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Protein Stability
    Protein Stability1.00
    3DNA Damage
    DNA Damage1.00
    4Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    5Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 Cell Signaling Technology (CST) Pathways for VCP
        Cell Cycle / Checkpoint Control
    Cytoskeletal Signaling
    DNA Damage
    Protein Stability

    2 GeneGo (Thomson Reuters) Pathways for VCP
        Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    1 BioSystems Pathway for VCP 
        IL-9 Signaling Pathway


    1         Kegg Pathway  (Kegg details for VCP):
        Protein processing in endoplasmic reticulum


    VCP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VCP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/291 Interacting proteins for VCP (P550721, 2, 3 ENSP000003517774) via UniProtKB, MINT, STRING, and/or I2D (see all 291)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN3P542521, 2, 3, ENSP000003523244EBI-1046421,EBI-946046 MINT-2837662 MINT-2837891 MINT-2837871 MINT-2837641 MINT-2838376 MINT-2837835 MINT-7903973 MINT-2838443 MINT-7904025 MINT-2838413 MINT-2837781 MINT-50296 MINT-2837757 MINT-7904005 MINT-50299 I2D: score=11 STRING: ENSP00000352324
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ----
    GO:0006281DNA repair NAS16140914
    GO:0006302double-strand break repair IDA--
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0006888ER to Golgi vesicle-mediated transport IEA--


    VCP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VCP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for VCP

    2 DrugBank Compounds for VCP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--10592235

    10/14 Novoseek chemical compound relationships for VCP gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptdins(3)p 45.2 1 12650639 (1)
    atp 40.1 29 12504076 (2), 12473691 (2), 12807884 (2), 12747802 (2) (see all 15)
    glutamine 38.3 10 18208395 (2), 17584300 (2), 11859409 (1), 17935506 (1) (see all 7)
    n-ethylmaleimide 33.1 7 7553850 (1), 10402460 (1), 14630332 (1)
    adp 32.4 6 12807884 (2), 12504076 (1), 10715114 (1), 18174159 (1)
    bortezomib 26.2 6 16966435 (4)
    thapsigargin 24.8 4 9405427 (1), 15306153 (1), 19302589 (1), 8672553 (1)
    calcium 8.85 8 9405427 (1), 8648106 (1), 15306153 (1), 8672553 (1)
    tyrosine 0.209 16 11087817 (4), 12509440 (2), 11086075 (1), 17166906 (1) (see all 7)
    lipid 0 1 10205162 (1)

    Search CenterWatch for drugs/clinical trials and news about VCP / TERA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VCP gene: 
    NM_007126.3  

    Unigene Cluster for VCP:

    Valosin containing protein
    Hs.529782  [show with all ESTs]
    Unigene Representative Sequence: BC017171
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358901(uc003zvy.2 uc010mkh.1) ENST00000493886(uc010mki.1)
    ENST00000466100 ENST00000479300 ENST00000480327 ENST00000448530 ENST00000417448


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    Additional cDNA sequence: 

    AF100752.1 AF313486.1 AK307735.1 AK312310.1 AL137377.1 BC007562.1 BC012195.1 BC017171.1 
    BC096751.1 BC110913.1 BC121794.1 BC122550.1 Z70768.1 

    24/58 DOTS entries (see all 58):

    DT.92461598  DT.100878430  DT.100061017  DT.100878429  DT.121145904  DT.100878422  DT.92475957  DT.92017855 
    DT.91827473  DT.100878435  DT.100878436  DT.121146017  DT.100840391  DT.92461619  DT.100878441  DT.121145929 
    DT.121145989  DT.100716087  DT.99980507  DT.100039142  DT.121145950  DT.92461603  DT.121146013  DT.95186348 

    24/1276 AceView cDNA sequences (see all 1276):

    CK725077 AA552013 BQ224180 AL555738 BM551508 BE645970 BQ055785 BQ053517 
    CD358905 BQ215115 BC007562 BG820468 BQ961308 BE042757 AL552507 BG287026 
    BU740869 BQ063136 BQ883675 BM853854 BM905118 BM803789 BQ060980 AI888638 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for VCP (see all 7)    About this scheme

    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:                    -     -     -     -     -                                                                                                               

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


    ECgene alternative splicing isoforms for VCP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VCP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTAAAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See VCP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VCP

    SOURCE GeneReport for Unigene cluster: Hs.529782
        SABiosciences Expression via Pathway-Focused PCR Arrays including VCP: 
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VCP gene from 9/43 species (see all 43)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves VCP1 valosin containing protein 83.91(n)
    99.01(a)
      427410  NM_001044664.1  NP_001038129.1 
    lizard
    (Anolis carolinensis)
    Reptilia VCP6
    --
    98(a)
    1 ↔ 1
    GL343804.1(49927-72973)
    African clawed frog
    (Xenopus laevis)
    Amphibia vcp-prov2 valosin containing protein 77.91(n)    X54240.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vcp2 valosin containing protein 77.45(n)   327197  BC050488.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta TER941 , 3 ER fusion adenosinetriphosphatase3
    CG2331-PA1
    82(a)
    (best of 3)3
    72.29(n)1
    83.63(a)1
      46D13
    360401  NM_001103779.11  NP_001097249.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C06A1.13
    cdc-48.21
    transitional endoplasmic reticulum ATPase
    homolog more3
    Protein CDC-48.21
    75(a)
    (best of 4)3
    67.93(n)1
    80.08(a)1
      II(10560241-10563298)3
    1743091  NM_063304.41  NP_495705.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC481 Cdc48p 63.42(n)
    70.5(a)
      851431   NP_010157.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G033401 cell division control protein 48-e 69.13(n)
    78.32(a)
      831870  NM_120412.2  NP_568114.1 
    rice
    (Oryza sativa)
    Liliopsida Os.46892 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.3(n)    AK098980.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VCP gene
    SPATA5L12  SPATA52  
    18/20 SIMAP similar genes for VCP using alignment to 7 protein entries:     TERA_HUMAN (see all proteins) (see all similar genes):
    DKFZp434K0126    AFG3L2    SPATA5    DKFZp666D103    ATAD2B    DKFZp434E0418
    FTSH    PSMC2    PSMC4    KATNAL2    PSMC1    PSMC6
    PSMC5    NVL    SPATA5L1    PEX1    PSMC3    DKFZp667C165

    VCP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/333 NCBI SNPs in VCP are shown (see all 333    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219093291,2
    Cpathogenic36715485(-) TGTCCA/C/GTGGTG 3 H P R mis10--------
    rs776197791,2
    --35011152(+) TCTTTA/CTGAAT 1 -- ds50012Minor allele frequency- C:0.16CSA WA 120
    rs749890381,2
    F,--35011297(+) ATAAAT/CACGCT 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs763603941,2
    --35011794(+) TAAGAT/CTGTAT 1 -- ut311Minor allele frequency- C:0.01NA 120
    rs115460261,2
    C--35011839(+) CAACAA/CAGTCT 1 -- ut310--------
    rs557459231,2
    F,--35012104(+) AGGCTG/ATTCCC 1 -- ut311Minor allele frequency- A:0.02NA 120
    rs1139059951,2
    C--35012145(+) TCAGGC/G/TTCCAT 2 -- ut311CSA 1
    rs10534531,2
    C--35012200(-) AGTTTC/TTAAAC 1 -- ut31 ese32Minor allele frequency- T:0.00NA 4
    rs10534471,2
    C--35012265(-) ATATAG/AAGAGT 1 -- ut31 ese33Minor allele frequency- A:0.06MN NA 188
    rs10534421,2
    C--35012287(-) GGGCCA/CCAGTT 1 -- ut31 ese33Minor allele frequency- C:0.00MN NA 188

    HapMap Linkage Disequilibrium report for VCP (35056061 - 35073246 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VCP: --
    Human Gene Mutation Database (HGMD): VCP

    Locus Specific Mutation Databases (LSDB): VCP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VCP
    DNA2.0 Custom Variant and Variant Library Synthesis for VCP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VCP for disorders           About GeneDecksing

    OMIM gene information: 601023   
    OMIM disorders: 167320  
    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
  • Defects in VCP are the cause of inclusion body myopathy with early-onset Paget disease and frontotemporal
  • dementia (IBMPFD) [MIM:167320]; also known as muscular dystrophy, limb-girdle, with Paget disease of bone or pagetoid
    amyotrophic lateral sclerosis or pagetoid neuroskeletal syndrome or lower motor neuron degeneration with Paget-like
    bone disease. IBMPFD features adult-onset proximal and distal muscle weakness (clinically resembling limb girdle
    muscular dystrophy), early-onset Paget disease of bone in most cases and premature frontotemporal dementia
  • Defects in VCP are the cause of amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia
  • (ALS14) [MIM:613954]. ALS14 is 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

    20/68 diseases for VCP (see all 68):    About MalaCards
    inclusion body myopathy with early-onset paget disease and frontotemporal dementia    inclusion body myopathy    inclusion body myopathy with paget disease of bone and/or frontotemporal dementia    machado-joseph disease
    limb-girdle muscular dystrophy    frontotemporal dementia    inclusion body myositis    non-small cell lung carcinoma
    amyotrophic lateral sclerosis    paget's disease of bone    mammary paget's disease    lateral sclerosis
    motor neuron disease    primary biliary cirrhosis    muscular dystrophy    werner syndrome
    glucocorticoid resistance    myopathy    dementia    monkeypox

    7 diseases from the University of Copenhagen DISEASES database for VCP:
    Frontotemporal dementia     Paget's disease of bone     Mammary Paget's disease     Myopathy
    Amyotrophic lateral sclerosis     Machado-Joseph disease     Smallpox

    10/30 Novoseek disease relationships for VCP gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inclusion body myopathy 95.9 56 17935506 (2), 19380227 (2), 17457594 (2), 17889967 (2) (see all 31)
    frontotemporal dementia 89.3 76 17279000 (3), 17457594 (3), 17618707 (3), 15732117 (3) (see all 34)
    myopathy 66.6 25 17763460 (3), 19208399 (2), 16822868 (1), 16199218 (1) (see all 11)
    machado-joseph disease 65.4 5 12351637 (1), 20414249 (1)
    limb girdle 59.9 1 20116073 (1)
    neurodegenerative diseases 55.2 7 18208395 (2), 12759168 (1), 16317258 (1), 18798739 (1) (see all 6)
    motor neuron disease 54.8 2 12759168 (1)
    dementia 51.1 20 19380227 (2), 12759168 (1), 16932700 (1), 16199218 (1) (see all 13)
    neurodegeneration 47.2 5 11859409 (3), 19237541 (1)
    amyotrophic lateral sclerosis 46.7 2 20496755 (1)

    GeneTests: VCP
    Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

    Human Genome Epidemiology (HuGE) Navigator: VCP (6 documents)

    Export disorders for VCP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VCP gene, integrated from 9 sources (see all 389):
    (articles sorted by number of sources associating them with VCP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubxd1 is a novel co-factor of the human p97 ATPase. (PubMed id 18656546)1, 2, 9 Madsen L....Hartmann-Petersen R. (2008)
    2. Physical and functional interaction between dorfin and valosin- containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders. (PubMed id 15456787)1, 2, 9 Ishigaki S.... Sobue G. (2004)
    3. A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs. (PubMed id 15362974)1, 2, 9 McNeill H.... Cohen P. (2004)
    4. Valosin-containing protein, VCP, is a ubiquitous clathrin-binding protein. (PubMed id 8413590)1, 2, 9 Pleasure I.T.... Keen J.H. (1993)
    5. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. (PubMed id 16247064)1, 2, 9 Haubenberger D.... Zimprich A. (2005)
    6. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. (PubMed id 15732117)1, 2, 9 Schroeder R.... Thal D.R. (2005)
    7. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. (PubMed id 8595912)1, 3, 9 Druck T....Keen J.H. (1995)
    8. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. (PubMed id 15034582)1, 2, 9 Watts G.D.J.... Kimonis V.E. (2004)
    9. An NSF-like ATPase, p97, and NSF mediate cisternal regrowth from mitotic Golgi fragments. (PubMed id 7553851)1, 3, 9 Rabouille C....Warren G. (1995)
    10. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway. (PubMed id 18675248)1, 2, 9 Maruyama Y....Yamada M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7415 HGNC: 12666 AceView: VCP Ensembl:ENSG00000165280 euGenes: HUgn7415
    ECgene: VCP Kegg: 7415 H-InvDB: VCP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VCP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VCP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VCP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VCP gene:
    Search GeneIP for patents involving VCP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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