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 |
---|---|
ORPHA:100070 |
|
ORPHA:803 |
|
OMIM:613954 |
|
ORPHA:329475 |
|
OMIM:167320 |
|
OMIM:616687 |
|
ORPHA:329478 |
|
ORPHA:52430 |
|
ORPHA:275864 |
|
ORPHA:435387 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101864872 | MACFA11781 | ||
101942338 | CHRPI26194 | ||
101972576 | ICTTR00591 | ||
102016151 | CHILA16902 | ||
102178357 | CAPHI29084 | ||
102419328 | MYOLU11639 | ||
102451540 | PELSI01759 | ||
103161970 | CRIGR13524 | ||
103176873 | CALMI11631 | ||
103219235 | CHLSB03261 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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: March 31, 2025