full name
adaptor related protein complex 1 sigma 1 subunit

synonyms
AP19, CLAPS1, MEDNIK, SIGMA1A, WUGSC:H_DJ0747G18.2, AP1S1, ENSG00000106367

HGNC
HGNC:559

Entrez Gene
Gene:1174

ENSEMBL
ENSG00000106367

location
chr: 7
start: 100797685
stop: 100804557
strand: +

OMIM
OMIM:603531: AP1S1 (Autosomal recessive inheritance)
OMIM:609313: MEDNIK syndrome

transcripts
NM_001283.3

pathways
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Clathrin derived vesicle budding [NCBI:1269881] [REACTOME:R-HSA-421837]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Golgi Associated Vesicle Biogenesis [NCBI:1269882] [REACTOME:R-HSA-432722]
HIV Infection [NCBI:1269057] [REACTOME:R-HSA-162906] [PUBMED:16354571] [PUBMED:9759480]
Host Interactions of HIV factors [NCBI:1269091] [REACTOME:R-HSA-162909]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Infectious disease [NCBI:1269056] [REACTOME:R-HSA-5663205]
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:2943218] [PUBMED:12628346] [PUBMED:1883197] [PUBMED:18635948] [PUBMED:15987739]
Lysosome Vesicle Biogenesis [NCBI:1269883] [REACTOME:R-HSA-432720]
MHC class II antigen presentation [NCBI:1269200] [REACTOME:R-HSA-2132295] [PUBMED:19703008] [PUBMED:9316394] [PUBMED:11684289] [PUBMED:19217269] [PUBMED:8689559]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Nef mediated downregulation of MHC class I complex cell surface expression [NCBI:1269104] [REACTOME:R-HSA-164940] [PUBMED:8612235] [PUBMED:12414957] [PUBMED:12526811] [PUBMED:9586638] [PUBMED:11593029]
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters [NCBI:1269102] [REACTOME:R-HSA-164938] [PUBMED:9811606] [PUBMED:11208076] [PUBMED:9564030] [PUBMED:9586638] [PUBMED:12486136] [PUBMED:9811611] [PUBMED:9384576] [PUBMED:9736718]
The role of Nef in HIV-1 replication and disease pathogenesis [NCBI:1269100] [REACTOME:R-HSA-164952] [PUBMED:16354571]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
trans-Golgi Network Vesicle Budding [NCBI:1269880] [REACTOME:R-HSA-199992] [PUBMED:11252894]