valosin containing protein
| UniProt | Protein Name |
|---|---|
| P55072 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| DNA repair | ||
| double-strand break repair | ||
| ubiquitin-dependent protein catabolic process | ||
| NADH metabolic process | ||
| endoplasmic reticulum to Golgi vesicle-mediated transport |
| Gene Ontology |
|---|
| ATP binding |
| mitotic spindle disassembly |
| polyubiquitin modification-dependent protein binding |
| retrograde protein transport, ER to cytosol |
| InterPro |
|---|
| AAA ATPase, AAA+ lid domain |
| AAA+ ATPase domain |
| ATPase, AAA-type, conserved site |
| ATPase, AAA-type, core |
| P-loop containing nucleoside triphosphate hydrolase |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060205 | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | |
| DOID:0110168 | Charcot-Marie-Tooth disease type 2Y | |
| DOID:0111385 | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 | |
| DOID:1307 | dementia | |
| DOID:3429 | inclusion body myositis | |
| DOID:5408 | Paget's disease of bone |
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000217 | Xerostomia |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0000708 | Atypical behavior |
| HP:0000709 | Psychosis |
| HP:0000710 | Hyperorality |
| Disease ID | Disease Name |
|---|---|
| OMIM:167320 |
|
| ORPHA:435387 |
|
| ORPHA:329478 |
|
| ORPHA:100070 |
|
| ORPHA:275872 |
|
| ORPHA:275864 |
|
| ORPHA:803 |
|
| ORPHA:329475 |
|
| OMIM:616687 |
|
| OMIM:613954 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 7415 | Xenbase:XB-GENE-969573 | ||
| 116643 | RATNO33756 | ||
| 269523 | MOUSE42801 | ||
| 327197 | DANRE36773 | ||
| 481590 | CANLF02276 | ||
| 507345 | BOVIN34511 | ||
| 698707 | MACMU12204 | ||
| 698837 | MACMU12204 | ||
| 747490 | PANTR43881 | ||
| 100020775 | MONDO30571 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 4, 2025