Gene Gene information from NCBI Gene database.
Entrez ID 7415
Gene name Valosin containing protein
Gene symbol VCP
Synonyms (NCBI Gene)
CDC48FTDALS6TERAp97
Chromosome 9
Chromosome location 9p13.3
Summary This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. Th
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs121909329 C>A,G,T Pathogenic Coding sequence variant, missense variant
rs121909330 G>A,C,T Likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, missense variant
rs121909331 G>T Pathogenic Coding sequence variant, missense variant
rs121909332 G>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121909334 C>T Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
363
miRTarBase ID miRNA Experiments Reference
MIRT029447 hsa-miR-26b-5p Microarray 19088304
MIRT048477 hsa-miR-100-5p CLASH 23622248
MIRT048237 hsa-miR-196a-5p CLASH 23622248
MIRT046614 hsa-miR-222-3p CLASH 23622248
MIRT044062 hsa-miR-361-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ELF2 Activation 18544453
PBX1 Activation 17200190
PBX2 Unknown 19356220
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
150
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000502 Component Proteasome complex IDA 9452483
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 9452483, 10364224, 10855792, 15161933, 15215856, 15743842, 16186510, 16275660, 16306228, 16407162, 16449189, 16525503, 17314412, 17525332, 17681147, 17872946, 18654987, 18656546, 18711132, 18775313, 19275885, 19570996, 19818707, 19822669, 20414249, 21135095, 21343306, 21645854, 2182
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601023 12666 ENSG00000165280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55072
Protein name Transitional endoplasmic reticulum ATPase (TER ATPase) (EC 3.6.4.6) (15S Mg(2+)-ATPase p97 subunit) (Valosin-containing protein) (VCP)
Protein 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 Gol
PDB 3EBB , 3HU1 , 3HU2 , 3HU3 , 3QC8 , 3QQ7 , 3QQ8 , 3QWZ , 3TIW , 4KDI , 4KDL , 4KLN , 4KO8 , 4KOD , 4P0A , 5B6C , 5C18 , 5C19 , 5C1A , 5C1B , 5DYG , 5DYI , 5EPP , 5FTJ , 5FTK , 5FTL , 5FTM , 5FTN , 5GLF , 5IFS , 5IFW , 5KIW , 5KIY , 5X4L , 6G2V , 6G2W , 6G2X , 6G2Y , 6G2Z , 6G30 , 6HD0 , 6MCK , 7BP8 , 7BP9 , 7BPA , 7BPB , 7JY5 , 7K56 , 7K57 , 7K59 , 7L5W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02359 CDC48_N 25 108 Cell division protein 48 (CDC48), N-terminal domain Domain
PF02933 CDC48_2 125 191 Cell division protein 48 (CDC48), domain 2 Domain
PF00004 AAA 241 371 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 393 454 AAA+ lid domain Domain
PF00004 AAA 514 647 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 669 714 AAA+ lid domain Domain
PF09336 Vps4_C 711 762 Vps4 C terminal oligomerisation domain Domain
Sequence
MASGADSKGDDLSTAILKQKNRPNRLIVDEAINEDNSVVSLSQPKMDELQLFRGDTVLLK
GKKRREAVCIVLSDDTCSDEKIRMNRVVRNNLRVRLGDVISIQPCPDV
KYGKRIHVLPID
DTVEGITGNLFEVYLKPYFLEAYRPIRKGDIFLVRGGMRAVEFKVVETDPSPYCIVAPDT
VIHCEGEPIKR
EDEEESLNEVGYDDIGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRG
ILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESNLRKAFEEAEKNAPAI
IFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRF
GRFDREVDIGI
PDATGRLEILQIHTKNMKLADDVDLEQVANETHGHVGADLAALCSEAAL
QAIRKKMDLIDLEDETIDAEVMNSLAVTMDDFRW
ALSQSNPSALRETVVEVPQVTWEDIG
GLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKTLLAKAIANECQANFI
SIKGPELLTMWFGESEANVREIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRV
INQILTEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLDQLIYIPL
PDEKSRVAILKAN
LRKSPVAKDVDLEFLAKMTNGFSGADLTEICQRACKLAIRESIESEIRRERERQTNPSAM
EVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTL
QQSRGFGSFRFPSGNQGG
AGPSQGSGGGTGGSVYTEDNDDDLYG
Sequence length 806
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1155
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alzheimer disease Likely pathogenic rs866101707 RCV000736269
Amyotrophic lateral sclerosis type 6 Likely pathogenic rs387906789 RCV001271083
Charcot-Marie-Tooth disease type 2Y Likely pathogenic; Pathogenic rs864309501, rs864309502, rs121909334, rs2490360233 RCV000202444
RCV000202492
RCV002496309
RCV003883215
Childhood Onset VCP-related Neurodevelopmental Disorder Likely pathogenic rs2490360271, rs2490360233, rs2490355959, rs2490351461 RCV003333706
RCV003333707
RCV003333709
RCV003333710
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity rs121909332 RCV001095441
Amyotrophic Lateral Sclerosis, Dominant Benign; Uncertain significance; Likely benign rs11272867, rs532528005, rs532445930, rs184152880, rs886063891, rs879074973 RCV000321686
RCV000275786
RCV000390511
RCV000270492
RCV000306523
RCV000359673
Cervical cancer Benign rs118166920, rs144304208 RCV005923293
RCV005892856
Cholangiocarcinoma Benign rs118166920 RCV005923295
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 25970786
Adenocarcinoma of Lung Associate 38167084
Alzheimer Disease Associate 23715207, 28692196
Amyotrophic Lateral Sclerosis Associate 21145000, 21920633, 22210628, 22572540, 22739338, 23056506, 23152587, 23349634, 23755159, 24885147, 25125609, 25492614, 25775548, 26475856, 28282387
View all (20 more)
Amyotrophic lateral sclerosis 1 Associate 22572540, 23152587, 25492614, 25618255, 34520757
Antisocial Personality Disorder Associate 17935506
Aphasia Primary Progressive Associate 22900631
Astrocytoma Associate 35841038
Ataxia Associate 34130600
Body Weight Associate 25492614