Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

miRTarBase ID	miRNA	Experiments
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

45 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
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0021589	Process	Cerebellum structural organization	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0021799	Process	Cerebral cortex radially oriented cell migration	IEA
GO:0021813	Process	Cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0021942	Process	Radial glia guided migration of Purkinje cell	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035591	Function	Signaling adaptor activity	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045202	Component	Synapse	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0051645	Process	Golgi localization	IEA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0097475	Process	Motor neuron migration	IEA
GO:0097477	Process	Lateral motor column neuron migration	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140650	Process	Radial glia-guided pyramidal neuron migration	IEA

MIM	HGNC	e!Ensembl
603448	2661	ENSG00000173406

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

KEGG Pathway	Reactome Pathway
Spinocerebellar ataxia	Reelin signalling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic ataxia	Likely pathogenic	rs1646774558	RCV001647225	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (28)
ALZHEIMER DISEASE	—	GWAS catalog	35977442	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	15820235	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULIMIA NERVOSA	—	GWAS catalog	23568457	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	32518416	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	29228715	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29472232	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DAB1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	36379924	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914, 37106081	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	21221998	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	38408933	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 37	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 37	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	28686858, 29939198, 30588707, 23700170	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Ataxia	Ataxia	Pubtator	29939198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29939198, 38396267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	ORPHANET_DG	23700170		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	BEFREE	29891931		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 37	Spinocerebellar Ataxia	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	28686858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29939198	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DAB1 (DAB adaptor protein 1)

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