Identity
HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
ADTB3,ADTB3A,HPS,HPS2,PE
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: 8546
MIM: 603401
HGNC: 566
Ensembl: ENSG00000132842
Variants:
dbSNP: 8546
ClinVar: 8546
TCGA: ENSG00000132842
COSMIC: AP3B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132842 | ENST00000255194 | O00203 |
| ENSG00000132842 | ENST00000255194 | A0A0S2Z5J4 |
| ENSG00000132842 | ENST00000519295 | O00203 |
| ENSG00000132842 | ENST00000522901 | H0YBD0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34637926 | 2022 | HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. | 12 |
| 34637926 | 2022 | HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. | 12 |
| 33867526 | 2021 | Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. | 15 |
| 33867526 | 2021 | Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. | 15 |
| 30630984 | 2019 | Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells. | 17 |
| 30630984 | 2019 | Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells. | 17 |
| 28585318 | 2017 | Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. | 11 |
| 28585318 | 2017 | Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. | 11 |
| 25980904 | 2015 | Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. | 9 |
| 25980904 | 2015 | Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. | 9 |
| 25210190 | 2014 | Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes. | 17 |
| 25210190 | 2014 | Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes. | 17 |
| 23144738 | 2012 | AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes. | 16 |
| 23144738 | 2012 | AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes. | 16 |
| 19679886 | 2010 | Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. | 24 |
Citation
Dessen P
AP3B1 (adaptor related protein complex 3 subunit beta 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60402/teaching-explorer/new-content/
