AP1S1 (adaptor related protein complex 1 subunit sigma 1)

2003-08-01  

Identity

HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
AP19,CLAPS1,EKV3,MEDNIK,SIGMA1A
FUSION GENES

Other Information

Locus ID:

NCBI: 1174
MIM: 603531
HGNC: 559
Ensembl: ENSG00000106367

Variants:

dbSNP: 1174
ClinVar: 1174
TCGA: ENSG00000106367
COSMIC: AP1S1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106367ENST00000337619P61966
ENSG00000106367ENST00000337619A0A024QYT6
ENSG00000106367ENST00000429457H7C1E4
ENSG00000106367ENST00000443943P61966
ENSG00000106367ENST00000443943A0A024QYT6
ENSG00000106367ENST00000646560A0A2R8YGH5
ENSG00000106367ENST00000646950A0A2R8Y7S3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef mediated downregulation of MHC class I complex cell surface expressionREACTOMER-HSA-164940
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190576752008Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.51
20406231991AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast.17
234236742013MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.0

Citation

Dessen P

AP1S1 (adaptor related protein complex 1 subunit sigma 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/662/ap1s1