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

VCP Gene

protein-coding   GIFtS: 70
GCID: GC09M035056

Valosin Containing Protein

(Previous name: valosin-containing protein)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Valosin Containing Protein1 2     TERA2
Valosin-Containing Protein1 2 3     p972
15S Mg(2+)-ATPase P97 Subunit2 3     Transitional Endoplasmic Reticulum ATPase2
TER ATPase2 3     Yeast Cdc48p Homolog2
IBMPFD2 5     EC 3.6.4.63
ALS142     

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 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 paget disease of bone and/or frontotemporal dementia, and inclusion body myopathy with early-onset paget disease and frontotemporal dementia, and among its related super-pathways are Regulation of degradation of deltaF508 CFTR in CF and Cell Cycle / Checkpoint Control. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is SPATA5.

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) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
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: 9p13.3

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 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

Explore proteomics data for VCP at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by tyrosine kinases in response to T-cell antigen receptor activation (By similarity)
  • UniProtKB: ISGylated
  • UniProtKB: Methylation at Lys-315 catalyzed by METTL21D is increased in the presence of ASPSCR1. Lys-315 methylation may
    decrease ATPase activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55072

  • VCP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VCP Protein Expression
    REFSEQ proteins: NP_009057.1  
    ENSEMBL proteins: 
     ENSP00000351777   ENSP00000392088   ENSP00000399456  

    Human Recombinant Protein Products for VCP: 
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    Novus Biologicals VCP Proteins
    Novus Biologicals VCP Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VCP 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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



    VCP Antibody Products: 
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    Abcam antibodies for VCP
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    LSBio Antibodies in human, mouse, rat for VCP 

    Assay Products for VCP: 
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    Cloud-Clone Corp. ELISAs for VCP 
    Cloud-Clone Corp. CLIAs for VCP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    5/9 InterPro protein domains (see all 9):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR004201 Cdc48_dom2
     IPR015415 Vps4_C
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P55072

    ProtoNet protein and cluster: P55072

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


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


    VCP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005102receptor binding ----
    GO:0005515protein binding IPI10855792
    GO:0005524ATP binding IEA--
    GO:0008289lipid binding IEA--
         
    VCP for ontologies           About GeneDecksing


    Phenotypes:
         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 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Vcp):
     behavior/neurological  cardiovascular system  cellular  growth/size  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 
     nervous system  skeleton 

    VCP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vcptm1.1Dts for VCP

       inGenious Targeting Laboratory - Custom generated mouse model solutions for VCP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for VCP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VCP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VCP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VCP
    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
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VCP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VCP About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of wt-CFTR
    Regulation of degradation of wt-CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    3Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-9 Signaling Pathway0.42
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    2         Kegg Pathways  (Kegg details for VCP):
        Protein processing in endoplasmic reticulum
    Legionellosis


    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)

    5/296 Interacting proteins for VCP (P550721, 2, 3 ENSP000003517774) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN3P542521, 2, 3, ENSP000003523244EBI-355164,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): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process TAS15215856
    GO:0006281DNA repair NAS16140914
    GO:0006302double-strand break repair IDA10855792
    GO:0006310DNA recombination ----
    GO:0006511ubiquitin-dependent protein catabolic process ----

    VCP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VCP (TERA)

    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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VCP

    Additional mRNA 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.95186348  DT.92461603  DT.100878427 

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

    BQ653128 AA337700 BM826777 BQ935751 AW630651 F36657 BQ430022 BX280734 
    CB134321 CB121322 BP341025 CO249046 AU125829 BM819082 BF526537 BG324614 
    CB529440 CD358905 BQ220207 BU740869 AL552507 BM836997 BG479863 BE857471 

    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)      VCP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTAAAAGG
    VCP Expression
    About this image


    VCP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    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

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VCP

    (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 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vcp1 , 5 valosin containing protein1, 5 91.52(n)1
    100(a)1
      4 (22.95 cM)5
    2695231  NM_009503.41  NP_033529.31 
     429799635 
    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
    --
    --
    99(a)
    79(a)
    1 ↔ 1
    possible ortholog
    GL343804.1(47882-80810)
    2(102532052-102558505)
    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
    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    PSMC3    PEX1    DKFZp667C165

    VCP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/488 SNPs in VCP are shown (see all 488)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0330214
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330212 R Q mis40--------
    VAR_0330174
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330172 R C mis40--------
    VAR_0330224
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330222 A E mis40--------
    VAR_0330164
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330162 R G mis40--------
    VAR_0659114
    Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)4--see VAR_0659112 D N mis40--------
    VAR_0330184
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330182 R H mis40--------
    VAR_0659104
    Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)4--see VAR_0659102 R G mis40--------
    VAR_0330204
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330202 R H mis40--------
    VAR_0330194
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)4--see VAR_0330192 R P mis40--------
    rs1219093291,2
    Cpathogenic135033768(-) TGTCCA/C/GTGGTG 3 H P R mis10--------

    HapMap Linkage Disequilibrium report for VCP (35056061 - 35073246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for VCP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893043CNV Gain21882294


    Human Gene Mutation Database (HGMD): VCP

    Locus Specific Mutation Databases (LSDB): VCP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601023   
    OMIM disorders: 167320  
    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]:
    A disease with features of 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/62 diseases for VCP (see all 62):    About MalaCards
    inclusion body myopathy with paget disease of bone and/or frontotemporal dementia    inclusion body myopathy with early-onset paget disease and frontotemporal dementia    adult-onset distal myopathy due to vcp mutation    spastic paraplegia - paget disease of bone
    vcp-related amyotrophic lateral sclerosis/frontotemporal dementia    atp7a-related distal motor neuropathy    frontotemporal dementia    paget's disease of bone
    mammary paget's disease    monkeypox    amyotrophic lateral sclerosis    machado-joseph disease
    dementia    glucocorticoid resistance    werner syndrome    motor neuron disease
    smallpox    vesiculitis    inclusion body myositis    neuronal ceroid lipofuscinosis

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

    VCP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/30 Novoseek inferred 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
    GeneReviews: VCP
    Genetic Association Database (GAD): VCP
    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 432):
    (articles sorted by number of sources associating them with VCP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing reveals VCP mutations as a cause of familial ALS. (PubMed id 21145000)1, 2, 4 Johnson J.O....Traynor B.J. (2010)
    2. Ubxd1 is a novel co-factor of the human p97 ATPase. (PubMed id 18656546)1, 2, 9 Madsen L....Hartmann-Petersen R. (2008)
    3. 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)
    4. 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)
    5. Valosin-containing protein, VCP, is a ubiquitous clathrin-binding protein. (PubMed id 8413590)1, 2, 9 Pleasure I.T.... Keen J.H. (1993)
    6. No association of common VCP variants with sporadic frontotemporal dementia. (PubMed id 17618707)1, 4, 9 Schumacher A....Riemenschneider M. (2007)
    7. 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)
    8. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. (PubMed id 15732117)1, 2, 9 Schroeder R.... Thal D.R. (2005)
    9. 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)
    10. 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)

    (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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    About This Section

     
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