DAB1 (DAB adaptor protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1600
Gene name Gene Name - the full gene name approved by the HGNC.
DAB adaptor protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAB1
Synonyms (NCBI Gene) Gene synonyms aliases
SCA37
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.2-p32.1
Summary Summary of gene provided in NCBI Entrez Gene.
The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously forme
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT1973251 hsa-miR-186 CLIP-seq
MIRT1973252 hsa-miR-300 CLIP-seq
MIRT1973253 hsa-miR-381 CLIP-seq
MIRT1973254 hsa-miR-4769-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(45)
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IBA
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183, 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603448 2661 ENSG00000173406
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75553
Protein name Disabled homolog 1
Protein function Signaling adapter of the reelin-mediated signaling pathway, which regulates the migration and differentiation of postmitotic neurons during brain development. Mediates intracellular transduction of Reelin signaling following reelin (RELN)-bindin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 42 → 168 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain. {ECO:0000269|PubMed:28686858}.
Sequence 
MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKL
CQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQHHHAVHEISYIAKDI
TDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQC
EQAVYQTILEEDVEDPVYQYIVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPV
SNGYSFEDFEERFAAATPNRNLPTDFDEIFEATKAVTQLELFGDMSTPPDITSPPTPATP
GDAFIPSSSQTLPASADVFSSVPFGTAAVPSGYVAMGAVLPSFWGQQPLVQQQMVMGAQP
PVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPL
ATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQMAQPPPVPSRKPDQPSLTCTSEAFSSYF
NKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHASDPTTDD
IFEEGFESPSKSEEQEAPDGSQASSNSDPFGEPSGEPSGDNISPQAGS
Sequence length 588
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Spinocerebellar ataxia   Reelin signalling pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (10)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Bulimia Bulimia nervosa N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35466940, 35977442, 38093390
Ataxia Associate 29939198
Ataxia Telangiectasia Associate 32755029
Autistic Disorder Associate 36039581
Breast Neoplasms Inhibit 30484953
Cerebellar Diseases Associate 29939198, 38396267
Cleft Lip Associate 30127215
Cognition Disorders Associate 35466940, 38093390
Cognitive Dysfunction Associate 38093390
Colorectal Neoplasms Associate 39199384