Identity
HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
ADTB1,AP105A,BAM22,CLAPB2,KIDAR
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: 162
MIM: 600157
HGNC: 554
Ensembl: ENSG00000100280
Variants:
dbSNP: 162
ClinVar: 162
TCGA: ENSG00000100280
COSMIC: AP1B1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33349978 | 2021 | MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. | 1 |
| 33349978 | 2021 | MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. | 1 |
| 32816642 | 2020 | Novel function for AP-1B during cell migration. | 2 |
| 32816642 | 2020 | Novel function for AP-1B during cell migration. | 2 |
| 31630788 | 2019 | Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. | 11 |
| 31630791 | 2019 | Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. | 16 |
| 31630788 | 2019 | Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. | 11 |
| 31630791 | 2019 | Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. | 16 |
| 25739457 | 2015 | Basolateral sorting of chloride channel 2 is mediated by interactions between a dileucine motif and the clathrin adaptor AP-1. | 7 |
| 25739457 | 2015 | Basolateral sorting of chloride channel 2 is mediated by interactions between a dileucine motif and the clathrin adaptor AP-1. | 7 |
| 23205726 | 2013 | Basolateral EGF receptor sorting regulated by functionally distinct mechanisms in renal epithelial cells. | 9 |
| 23205726 | 2013 | Basolateral EGF receptor sorting regulated by functionally distinct mechanisms in renal epithelial cells. | 9 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 21444685 | 2011 | ARH cooperates with AP-1B in the exocytosis of LDLR in polarized epithelial cells. | 23 |
Citation
Dessen P
AP1B1 (adaptor related protein complex 1 subunit beta 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/660/ap1b1
