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 formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to... See more...

Aliases for DAB1 Gene

Aliases for DAB1 Gene

  • DAB Adaptor Protein 1 2 3 5
  • Dab Reelin Signal Transducer 1 2 3
  • DAB1, Reelin Adaptor Protein 2 3
  • Disabled Homolog 1 3 4
  • Dab, Reelin Signal Transducer, Homolog 1 (Drosophila) 2
  • Dab, Reelin Signal Transducer, Homolog 1 3
  • Disabled (Drosophila) Homolog 1 2
  • Disabled Homolog 1 (Drosophila) 2
  • SCA37 3
  • DAB1 5

External Ids for DAB1 Gene

Previous GeneCards Identifiers for DAB1 Gene

  • GC01M057380
  • GC01M056378
  • GC01M056821
  • GC01M056833
  • GC01M057175
  • GC01M055576
  • GC01M057460

Summaries for DAB1 Gene

Entrez Gene Summary for DAB1 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 formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]

GeneCards Summary for DAB1 Gene

DAB1 (DAB Adaptor Protein 1) is a Protein Coding gene. Diseases associated with DAB1 include Spinocerebellar Ataxia 37 and Epilepsy, Familial Adult Myoclonic, 1. Among its related pathways are Spinocerebellar ataxia and Lissencephaly gene (LIS1) in neuronal migration and development. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol 3-kinase binding. An important paralog of this gene is DAB2.

UniProtKB/Swiss-Prot Summary for DAB1 Gene

  • Adapter molecule functioning in neural development. May regulate SIAH1 activity.

Gene Wiki entry for DAB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAB1 Gene

Genomics for DAB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DAB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DAB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAB1

Top Transcription factor binding sites by QIAGEN in the DAB1 gene promoter:
  • aMEF-2
  • AP-1
  • ATF-2
  • c-Jun
  • Chx10
  • IRF-2
  • N-Myc
  • TBP
  • TFIID

Genomic Locations for DAB1 Gene

Latest Assembly
chr1:56,994,778-58,546,734
(GRCh38/hg38)
Size:
1,551,957 bases
Orientation:
Minus strand

Previous Assembly
chr1:57,460,451-59,012,398
(GRCh37/hg19 by Entrez Gene)
Size:
1,551,948 bases
Orientation:
Minus strand

chr1:57,460,451-59,012,406
(GRCh37/hg19 by Ensembl)
Size:
1,551,956 bases
Orientation:
Minus strand

Genomic View for DAB1 Gene

Genes around DAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAB1 Gene

Proteins for DAB1 Gene

  • Protein details for DAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75553-DAB1_HUMAN
    Recommended name:
    Disabled homolog 1
    Protein Accession:
    O75553
    Secondary Accessions:
    • A4FU90
    • B3KTG3
    • Q4LE59
    • Q5T6M6
    • Q5T6M9
    • Q5T835
    • Q5T836
    • Q5T837
    • Q6NWS9
    • Q6NWT0
    • Q6NWT1
    • Q9NYA8

    Protein attributes for DAB1 Gene

    Size:
    588 amino acids
    Molecular mass:
    63775 Da
    Quaternary structure:
    • Associates with the SH2 domains of SRC, FYN and ABL (By similarity). Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain) (By similarity). Interacts with SIAH1, LRP8 and VLDLR (By similarity). Interacts with LRP1 (PubMed:15272003). Interacts with APLP1 (via NPXY motif) (By similarity). Interacts with DAB2IP (By similarity).
    SequenceCaution:
    • Sequence=BAE06094.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DAB1 Gene

neXtProt entry for DAB1 Gene

Post-translational modifications for DAB1 Gene

  • Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DAB1 Gene

Domains & Families for DAB1 Gene

Gene Families for DAB1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DAB1 Gene

InterPro:
Blocks:
  • Phosphotyrosine interaction domain

Suggested Antigen Peptide Sequences for DAB1 Gene

GenScript: Design optimal peptide antigens:
  • Disabled homolog 1 (DAB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75553

UniProtKB/Swiss-Prot:

DAB1_HUMAN :
  • The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated proteins.
Domain:
  • The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated proteins.
genes like me logo Genes that share domains with DAB1: view

Function for DAB1 Gene

Molecular function for DAB1 Gene

UniProtKB/Swiss-Prot Function:
Adapter molecule functioning in neural development. May regulate SIAH1 activity.
GENATLAS Biochemistry:
murine disabled-1 homolog,expressed in brain and likely involved in brain development

Phenotypes From GWAS Catalog for DAB1 Gene

Gene Ontology (GO) - Molecular Function for DAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0043548 phosphatidylinositol 3-kinase binding IEA --
genes like me logo Genes that share ontologies with DAB1: view
genes like me logo Genes that share phenotypes with DAB1: view

Human Phenotype Ontology for DAB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DAB1 Gene

MGI Knock Outs for DAB1:

miRNA for DAB1 Gene

miRTarBase miRNAs that target DAB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DAB1 Gene

Localization for DAB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAB1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005903 brush border IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DAB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DAB1 Gene

Pathways & Interactions for DAB1 Gene

genes like me logo Genes that share pathways with DAB1: view

Pathways by source for DAB1 Gene

2 Qiagen pathways for DAB1 Gene
  • Guidance Cues and Growth Cone Motility
  • Reelin Pathway (Cajal-Retzius cells)
2 Cell Signaling Technology pathways for DAB1 Gene

SIGNOR curated interactions for DAB1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0007162 negative regulation of cell adhesion IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with DAB1: view

Drugs & Compounds for DAB1 Gene

(3) Drugs for DAB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for DAB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DAB1: view

Transcripts for DAB1 Gene

mRNA/cDNA for DAB1 Gene

11 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAB1

Alternative Splicing Database (ASD) splice patterns (SP) for DAB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - -
SP6:

Relevant External Links for DAB1 Gene

GeneLoc Exon Structure for
DAB1

Expression for DAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DAB1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.1) and Brain - Cerebellum (x6.8).

Protein differential expression in normal tissues from HIPED for DAB1 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DAB1 Gene



Protein tissue co-expression partners for DAB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAB1

SOURCE GeneReport for Unigene cluster for DAB1 Gene:

Hs.477370

mRNA Expression by UniProt/SwissProt for DAB1 Gene:

O75553-DAB1_HUMAN
Tissue specificity: Mainly expressed in brain.

Evidence on tissue expression from TISSUES for DAB1 Gene

  • Nervous system(4.8)
  • Blood(2.3)
  • Spleen(2)
genes like me logo Genes that share expression patterns with DAB1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DAB1 Gene

Orthologs for DAB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAB1 29 30
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DAB1 29 30
  • 96.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DAB1 29 30
  • 95.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dab1 29
  • 93.15 (n)
Mouse
(Mus musculus)
Mammalia Dab1 29 16 30
  • 92.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DAB1 30
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DAB1 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DAB1 29 30
  • 85.54 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dab1 29
  • 78.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii dab1a 29 30
  • 66.36 (n)
OneToMany
dab1b 30
  • 50 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Dab 30
  • 3 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dab-1 30
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 4 (a)
OneToMany
Species where no ortholog for DAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DAB1 Gene

ENSEMBL:
Gene Tree for DAB1 (if available)
TreeFam:
Gene Tree for DAB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAB1: view image
Alliance of Genome Resources:
Additional Orthologs for DAB1

Paralogs for DAB1 Gene

genes like me logo Genes that share paralogs with DAB1: view

Variants for DAB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAB1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs114941053 Benign: not provided 57,010,703(-) C/A
NM_001365792.1(DAB1):c.1660G>T (p.Gly554Cys)
MISSENSE
rs12404008 Likely Benign: not provided 57,015,403(-) C/T
NM_001365792.1(DAB1):c.924G>A (p.Pro308=)
SYNONYMOUS
rs138384213 Likely Benign: not provided 57,023,588(-) G/A
NM_021080.5(DAB1):c.838C>T (p.Pro280Ser)
MISSENSE
rs140683681 Likely Benign: not provided 58,534,306(-) A/G
NM_145243.5(OMA1):c.755T>C (p.Met252Thr)
MISSENSE
rs141647150 Benign: not provided 57,010,704(-) G/A
NM_021080.5(DAB1):c.1659C>T (p.Ala553=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DAB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DAB1 Gene

Variant ID Type Subtype PubMed ID
esv1002928 CNV deletion 20482838
esv1095459 CNV deletion 17803354
esv2031864 CNV deletion 18987734
esv2277330 CNV deletion 18987734
esv25746 CNV loss 19812545
esv2641726 CNV deletion 19546169
esv2663515 CNV deletion 23128226
esv26685 CNV loss 19812545
esv2676025 CNV deletion 23128226
esv2748697 CNV deletion 23290073
esv2748708 CNV deletion 23290073
esv2748719 CNV deletion 23290073
esv2748730 CNV deletion 23290073
esv2748741 CNV deletion 23290073
esv2748752 CNV deletion 23290073
esv2748763 CNV deletion 23290073
esv2748774 CNV deletion 23290073
esv2748785 CNV deletion 23290073
esv275018 CNV loss 21479260
esv2763625 CNV loss 21179565
esv29351 CNV loss 19812545
esv3308045 CNV mobile element insertion 20981092
esv3336060 CNV insertion 20981092
esv3359170 CNV insertion 20981092
esv3409403 CNV insertion 20981092
esv3450454 CNV insertion 20981092
esv3562471 CNV deletion 23714750
esv3562482 CNV deletion 23714750
esv3562526 CNV deletion 23714750
esv3562538 CNV deletion 23714750
esv3577879 CNV loss 25503493
esv3586137 CNV loss 21293372
esv3586140 CNV gain 21293372
esv3586142 CNV loss 21293372
esv3586143 CNV loss 21293372
esv3586147 CNV loss 21293372
esv3586148 CNV loss 21293372
esv3586150 CNV loss 21293372
esv3586151 CNV loss 21293372
esv3586153 CNV loss 21293372
esv3586154 CNV loss 21293372
esv3586156 CNV loss 21293372
esv3893568 CNV gain 25118596
esv3893579 CNV loss 25118596
esv4838 CNV loss 18987735
esv6090 CNV gain 19470904
esv7642 CNV loss 19470904
esv994666 CNV deletion 20482838
nsv1001771 CNV loss 25217958
nsv1008205 CNV gain 25217958
nsv10195 CNV gain 18304495
nsv10206 CNV gain+loss 18304495
nsv1078444 CNV deletion 25765185
nsv1113122 CNV deletion 24896259
nsv1119689 CNV deletion 24896259
nsv1127000 CNV deletion 24896259
nsv1129461 CNV tandem duplication 24896259
nsv1153928 CNV deletion 26484159
nsv472077 CNV novel sequence insertion 20440878
nsv472311 CNV novel sequence insertion 20440878
nsv475239 CNV novel sequence insertion 20440878
nsv476142 CNV novel sequence insertion 20440878
nsv477041 CNV novel sequence insertion 20440878
nsv508013 OTHER sequence alteration 20534489
nsv523574 CNV loss 19592680
nsv525581 CNV loss 19592680
nsv526087 CNV loss 19592680
nsv527673 CNV loss 19592680
nsv546305 CNV gain 21841781
nsv546306 CNV loss 21841781
nsv546307 CNV gain 21841781
nsv546308 CNV gain 21841781
nsv829937 CNV gain 17160897
nsv943 CNV insertion 18451855
nsv945968 CNV duplication 23825009
nsv945969 CNV duplication 23825009
nsv954 CNV deletion 18451855
nsv966 CNV insertion 18451855
nsv977 CNV insertion 18451855

Variation tolerance for DAB1 Gene

Residual Variation Intolerance Score: 33.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAB1 Gene

Human Gene Mutation Database (HGMD)
DAB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAB1
Leiden Open Variation Database (LOVD)
DAB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAB1 Gene

Disorders for DAB1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for DAB1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DAB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DAB1_HUMAN
  • Spinocerebellar ataxia 37 (SCA37) [MIM:615945]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging. {ECO:0000269 PubMed:28686858}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DAB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DAB1: view

No data available for Genatlas for DAB1 Gene

Publications for DAB1 Gene

  1. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. (PMID: 28686858) Seixas AI … Silveira I (American journal of human genetics 2017) 3 4 72
  2. Cloning of human DAB1 and mapping to chromosome 1p31-p32. (PMID: 9790777) Lambert de Rouvroit C … Goffinet AM (Genomics 1998) 2 3 4
  3. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. (PMID: 29939198) Corral-Juan M … Matilla-Dueñas A (Brain : a journal of neurology 2018) 3 72
  4. AKT-independent Reelin signaling requires interactions of heterotrimeric Go and Src. (PMID: 26441085) Cho SK … Lee YD (Biochemical and biophysical research communications 2015) 2 3
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for DAB1 Gene

Sources for DAB1 Gene