Entity Details

Primary name AP1S1
Entity type gene
Source Source Link

Details

PrimaryID1174
RefseqGeneNG_033082
SymbolAP1S1
Nameadaptor related protein complex 1 subunit sigma 1
Chromosome7
Location7q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAP1S1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005905 clathrin-coated pit
GO:0006886 intracellular protein transport
GO:0006892 post-Golgi vesicle-mediated transport
GO:0006898 receptor-mediated endocytosis
GO:0009615 response to virus
GO:0016020 membrane
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0030121 AP-1 adaptor complex
GO:0030659 cytoplasmic vesicle membrane
GO:0032588 trans-Golgi network membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0050690 regulation of defense response to virus by virus

Diseases

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Disease IDSourceNameDescription
609313 OMIMMental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. The disease is caused by variants affecting the gene represented in this entry.