Metazoan complexes |
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Details of VCP gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| VCP | --- | P55072 | TERA_HUMAN | 7415 | ENSG00000165280 | Transitional endoplasmic reticulum ATPase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
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. | 167320 | 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. | 613954 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of alkaline phosphatase activity, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the curvature of the vertebral column, Abnormality of the forebrain, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the scapula, Abnormality of the shoulder girdle musculature, Abnormality of the skeletal system, Abnormality of the thorax, Abnormality of the vertebral column, Age of onset, All, Amyotrophy, Aplasia/Hypoplasia involving the central nervous system, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal dominant inheritance, Back pain, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Dementia, Difficulty climbing stairs, Difficulty walking, Distal amyotrophy, Dysphasia, Dystonia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Elevated tissue non-specific alkaline phosphatase, Frontal cortical atrophy, Frontotemporal dementia, Functional motor problems., Gait disturbance, Hyperlordosis, Infantile onset, Limb-girdle muscle atrophy, Limb muscle weakness, Lumbar hyperlordosis, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Myopathy, Neurological speech impairment, Onset, Onset and clinical course, Pelvic girdle amyotrophy, Phenotypic abnormality, Proximal muscle weakness, Rimmed vacuoles, Scapular winging, Temporal cortical atrophy.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Vcp | TER94 | cdc-48.1... | Sp-Nvll_1 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
VCP | CALR | 0.955396582 | VCP | CALR | cpx960 | no | yes | no | Known |
VCP | CALU | 0.130217087 | VCP | CALU | cpx173 | no | yes | no | Known |
VCP | HSP90B1 | 0.695656795 | VCP | HSP90B1 | cpx9; cpx7 | no | yes | no | Known |
VCP | ABCC1 | 0.137776252 | VCP | ABCC1 | cpx7 | no | yes | no | Known |
VCP | NACA2 | 0.116077918 | VCP | NACA2 | cpx960 | no | yes | no | Known |
VCP | RCN1 | 0.207542232 | VCP | RCN1 | cpx173 | no | yes | no | Known |
VCP | PTGES3 | 0.996741396 | VCP | PTGES3 | cpx173; cpx392 | no | yes | no | Known |
RPN2 | VCP | 0.184079063 | RPN2 | VCP | cpx7 | no | yes | no | Known |
NSFL1C | VCP | 0.999999521 | NSFL1C | VCP | cpx313 | no | yes | yes | Known |
IPO4 | VCP | 0.164202072 | IPO4 | VCP | cpx313 | no | no | no | Novel |
SCD | VCP | 0.120106103 | SCD | VCP | cpx313 | no | yes | no | Known |
RPN1 | VCP | 0.033336945 | RPN1 | VCP | cpx9; cpx7 | no | yes | no | Known |
CLGN | VCP | 0.208562018 | CLGN | VCP | cpx9; cpx7 | no | yes | no | Known |
UQCRC2 | VCP | 0.03227923 | UQCRC2 | VCP | cpx7 | no | no | no | Novel |
KDSR | VCP | 0.118431275 | KDSR | VCP | cpx7 | no | no | no | Novel |
CANX | VCP | 0.403855374 | CANX | VCP | cpx7 | no | yes | no | Known |
TDP1 | VCP | 0.911914128 | TDP1 | VCP | cpx392; cpx369 | no | yes | no | Known |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
P4HB | VCP | 0.132265453 | P4HB | VCP |
ATAD3B | VCP | 0.110684764 | ATAD3B | VCP |
SLC25A3 | VCP | 0.09561115 | SLC25A3 | VCP |
TKT | VCP | 0.089506599 | TKT | VCP |
VCP | PHB | 0.170089027 | VCP | PHB |
VCP | TUBB3 | 0.076512363 | VCP | TUBB3 |
VCP | NSF | 0.115320236 | VCP | NSF |
VCP | TUBB4B | 0.081752875 | VCP | TUBB4B |
ATAD3A | VCP | 0.137812045 | ATAD3A | VCP |
PSMA4 | VCP | 0.168647597 | PSMA4 | VCP |
PSMA3 | VCP | 0.078644087 | PSMA3 | VCP |
VCP | TUBB | 0.392591348 | VCP | TUBB |
VCP | ABCC3 | 0.137155768 | VCP | ABCC3 |
VCP | TUBB2B | 0.158633515 | VCP | TUBB2B |
VCP | RAB11B | 0.08611558 | VCP | RAB11B |
VCP | STIP1 | 0.081763473 | VCP | STIP1 |
VCP | ISYNA1 | 0.529971237 | VCP | ISYNA1 |
HNRNPK | VCP | 0.088911999 | HNRNPK | VCP |
RANBP2 | VCP | 0.077801098 | RANBP2 | VCP |
RDX | VCP | 0.078616838 | RDX | VCP |