Entity Details

Primary name DJC13_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75165
EntryNameDJC13_HUMAN
FullNameDnaJ homolog subfamily C member 13
TaxID9606
Evidenceevidence at protein level
Length2243
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesDNAJC13

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006898 receptor-mediated endocytosis
GO:0007032 endosome organization
GO:0010008 endosome membrane
GO:0015031 protein transport
GO:0016020 membrane
GO:0030667 secretory granule membrane
GO:0031901 early endosome membrane
GO:0035577 azurophil granule membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0070062 extracellular exosome
GO:1902954 regulation of early endosome to recycling endosome transport
GO:2000641 regulation of early endosome to late endosome transport

Subcellular Location

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Subcellular Location
Early endosome
Early endosome membrane
Endosome membrane

Domains

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DomainNameCategoryType
IPR001623 DnaJ domainDomainDomain
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR025640 GYF domain 2DomainDomain
IPR035445 GYF-like domain superfamilyFamilyHomologous superfamily
IPR036869 Chaperone J-domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
168600 OMIMParkinson disease (PARK)A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. The gene represented in this entry may be involved in disease pathogenesis. Genetic variants in DNAJC13 (PubMed:24218364, PubMed:25393719) and TMEM230 (PubMed:27270108) have been found in the same large multigenerational family with adult-onset Parkinson disease. The pathological role of each gene and therefore the exact molecular basis of the disease is unclear.