Entity Details

Primary name UBA5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9GZZ9
EntryNameUBA5_HUMAN
FullNameUbiquitin-like modifier-activating enzyme 5
TaxID9606
Evidenceevidence at protein level
Length404
SequenceStatuscomplete
DateCreated2005-09-27
DateModified2021-06-02

Ontological Relatives

GenesUBA5

GO terms

Show/Hide Table
GOName
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0008270 zinc ion binding
GO:0030218 erythrocyte differentiation
GO:0030219 megakaryocyte differentiation
GO:0032446 protein modification by small protein conjugation
GO:0033146 regulation of intracellular estrogen receptor signaling pathway
GO:0034976 response to endoplasmic reticulum stress
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0050905 neuromuscular process
GO:0061709 reticulophagy
GO:0071566 UFM1 activating enzyme activity
GO:0071569 protein ufmylation
GO:1990592 protein K69-linked ufmylation

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Endoplasmic reticulum membrane
Golgi apparatus
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR000594 THIF-type NAD/FAD binding foldDomainDomain
IPR029752 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1SiteConserved site
IPR035985 Ubiquitin-activating enzymeFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617133 OMIMSpinocerebellar ataxia, autosomal recessive, 24 (SCAR24)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging. The disease is caused by variants affecting the gene represented in this entry.
617132 OMIMDevelopmental and epileptic encephalopathy 44 (DEE44)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE44 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.