DAB1 (DAB adaptor protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1600
Gene name DAB adaptor protein 1
Gene symbol DAB1
Synonyms (NCBI Gene)
SCA37
Chromosome 1
Chromosome location 1p32.2-p32.1
Summary 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.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603448 2661 ENSG00000173406
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spastic ataxia Likely pathogenic rs1646774558 RCV001647225
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Likely benign rs746363033 RCV000207412
DAB1-related disorder Uncertain significance; Likely benign; Benign rs887789978, rs200624826, rs34341631, rs749634644, rs190682807, rs530942620, rs1049719265, rs144727413, rs778399446, rs143089981, rs532864586 RCV003419173
RCV003929007
RCV003931848
RCV003894038
RCV003959563
RCV003939764
RCV003951678
RCV003976764
RCV003976791
RCV003962077
RCV003958129
Irido-corneo-trabecular dysgenesis Likely benign rs746363033 RCV000207412
Spinocerebellar ataxia type 37 Uncertain significance; Conflicting classifications of pathogenicity; Benign rs776275848, rs141893131, rs376587394, rs756329038, rs76376472 RCV001849221
RCV003143557
RCV003145976
RCV003145977
RCV003994717
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease 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