Identity
HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
AP19,CLAPS1,EKV3,MEDNIK,SIGMA1A
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1174
MIM: 603531
HGNC: 559
Ensembl: ENSG00000106367
Variants:
dbSNP: 1174
ClinVar: 1174
TCGA: ENSG00000106367
COSMIC: AP1S1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32306098 | 2020 | AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. | 14 |
| 32306098 | 2020 | AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. | 14 |
| 23423674 | 2013 | MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. | 57 |
| 23423674 | 2013 | MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. | 57 |
| 19057675 | 2008 | Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. | 73 |
| 19057675 | 2008 | Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. | 73 |
| 2040623 | 1991 | AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. | 18 |
| 2040623 | 1991 | AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. | 18 |
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
