DAB1 (DAB adaptor protein 1)

2008-10-01  

Identity

HGNC
LOCATION
1p32.2
LOCUSID
ALIAS
SCA37
FUSION GENES

Other Information

Locus ID:

NCBI: 1600
MIM: 603448
HGNC: 2661
Ensembl: ENSG00000173406

Variants:

dbSNP: 1600
ClinVar: 1600
TCGA: ENSG00000173406
COSMIC: DAB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173406ENST00000332102X6R4J9
ENSG00000173406ENST00000371230O75553
ENSG00000173406ENST00000371231O75553
ENSG00000173406ENST00000371231A0A3G6VF52
ENSG00000173406ENST00000371232A0A075B6G7
ENSG00000173406ENST00000371236O75553
ENSG00000173406ENST00000414851O75553
ENSG00000173406ENST00000420954O75553

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
VLDL interactionsREACTOMER-HSA-8855121
Reelin signalling pathwayREACTOMER-HSA-8866376

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213152592011Reelin regulates cadherin function via Dab1/Rap1 to control neuronal migration and lamination in the neocortex.144
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179749152007Cullin 5 regulates Dab1 protein levels and neuron positioning during cortical development.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
169514052006DAB1 and Reelin effects on amyloid precursor protein and ApoE receptor 2 trafficking and processing.58
191162732009Activated protein C ligation of ApoER2 (LRP8) causes Dab1-dependent signaling in U937 cells.56
164814372006Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E receptor 2: distinct roles in development and synaptic plasticity.49
175488212007Structure of a receptor-binding fragment of reelin and mutational analysis reveal a recognition mechanism similar to endocytic receptors.33
157182282005Disabled1 regulates the intracellular trafficking of reelin receptors.27

Citation

Dessen P

DAB1 (DAB adaptor protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50441/dab1