Entity Details

Primary name AUXI_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75061
EntryNameAUXI_HUMAN
FullNamePutative tyrosine-protein phosphatase auxilin
TaxID9606
Evidenceevidence at protein level
Length913
SequenceStatuscomplete
DateCreated2006-06-27
DateModified2021-06-02

Ontological Relatives

GenesDNAJC6

GO terms

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GOName
GO:0004725 protein tyrosine phosphatase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006892 post-Golgi vesicle-mediated transport
GO:0014069 postsynaptic density
GO:0016191 synaptic vesicle uncoating
GO:0017124 SH3 domain binding
GO:0030276 clathrin binding
GO:0031982 vesicle
GO:0043231 intracellular membrane-bounded organelle
GO:0061024 membrane organization
GO:0072318 clathrin coat disassembly
GO:0072583 clathrin-dependent endocytosis
GO:0098793 presynapse
GO:2000369 regulation of clathrin-dependent endocytosis

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001623 DnaJ domainDomainDomain
IPR014020 Tensin phosphatase, C2 domainDomainDomain
IPR029021 Protein-tyrosine phosphatase-likeFamilyHomologous superfamily
IPR029023 Tensin-type phosphatase domainDomainDomain
IPR036869 Chaperone J-domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615528 OMIMParkinson disease 19A, juvenile-onset (PARK19A)A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology 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. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures. The disease is caused by variants affecting the gene represented in this entry.
615528 OMIMParkinson disease 19A, juvenile-onset (PARK19A)A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology 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. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions