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Aliases for DAB1 Gene

Aliases for DAB1 Gene

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

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. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DAB1 Gene

DAB1 (DAB1, Reelin Adaptor Protein) is a Protein Coding gene. Diseases associated with DAB1 include Lissencephaly With Cerebellar Hypoplasia. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include phosphatidylinositol 3-kinase binding. An important paralog of this gene is DAB2.

UniProtKB/Swiss-Prot for DAB1 Gene

  • Adapter molecule functioning in neural development. May regulate SIAH1 activity (By similarity).

Gene Wiki entry for DAB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAB1 Gene

Genomics for DAB1 Gene

Regulatory Elements for DAB1 Gene

Enhancers for DAB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F058515 0.2 ENCODE 12.2 +30.7 30731 0.2 CTCF ZNF654 MAX ZBTB8A REST ZIC2 ZNF2 RAD21 ZBTB40 RFX5 OMA1 DAB1 TACSTD2 GC01M058497
GH01F058572 1.3 FANTOM5 ENCODE 11.6 -28.8 -28816 6.5 PKNOX1 MLX ARID4B SIN3A YY1 ZNF207 FOS DEK SP5 ZHX2 TACSTD2 OMA1 DAB1 RN7SL713P
GH01F058652 0.2 ENCODE 11.5 -106.0 -106030 0.2 CTCF MAX RAD21 RFX5 ZNF143 SMC3 NFE2 MAFK ZNF654 BHLHE40 TACSTD2 DAB1 OMA1 MYSM1 GC01M058655 GC01P058635
GH01F058653 0.6 ENCODE 11.5 -105.5 -105470 0.2 SCRT1 POLR2H GATA3 RFX1 GATA2 SCRT2 TACSTD2 DAB1 OMA1 GC01M058655 GC01P058635
GH01F058503 0.5 FANTOM5 11.3 +42.8 42837 0.0 BCOR KDM1A OMA1 DAB1 TACSTD2 GC01M058497 GC01P058492
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DAB1 on UCSC Golden Path with GeneCards custom track

Promoters for DAB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000077425 434 2200 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS

Genomic Location for DAB1 Gene

Chromosome:
1
Start:
56,994,778 bp from pter
End:
58,546,734 bp from pter
Size:
1,551,957 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. Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain). Interacts with DAB2IP, SIAH1, LRP1, LRP8 and VLDLR.
    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

Other Protein References for DAB1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DAB1 (DAB1)
  • Abcam antibodies for DAB1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DAB1

No data available for DME Specific Peptides for DAB1 Gene

Domains & Families for DAB1 Gene

Protein Domains for DAB1 Gene

Suggested Antigen Peptide Sequences for DAB1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with DAB1: view

No data available for Gene Families for DAB1 Gene

Function for DAB1 Gene

Molecular function for DAB1 Gene

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

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

Animal Models for DAB1 Gene

MGI Knock Outs for DAB1:

Animal Model Products

miRNA for DAB1 Gene

miRTarBase miRNAs that target DAB1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for DAB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAB1 Gene COMPARTMENTS Subcellular localization image for DAB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for DAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IEA --
GO:0005903 brush border IEA --
GO:0014069 postsynaptic density 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

SIGNOR curated interactions for DAB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for DAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0007420 brain 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

Unigene Clusters for DAB1 Gene

Dab, reelin signal transducer, homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DAB1

Expression for DAB1 Gene

mRNA expression in normal human tissues 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

NURSA nuclear receptor signaling pathways regulating expression of DAB1 Gene:

DAB1

SOURCE GeneReport for Unigene cluster for DAB1 Gene:

Hs.477370
genes like me logo Genes that share expression patterns with DAB1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia DAB1 34 35
  • 96.35 (n)
cow
(Bos Taurus)
Mammalia DAB1 34 35
  • 95.5 (n)
rat
(Rattus norvegicus)
Mammalia Dab1 34
  • 93.15 (n)
mouse
(Mus musculus)
Mammalia Dab1 34 16 35
  • 92.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DAB1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DAB1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves DAB1 34 35
  • 85.54 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia dab1 34
  • 78.98 (n)
zebrafish
(Danio rerio)
Actinopterygii dab1a 34 35
  • 66.36 (n)
dab1b 35
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dab 35
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dab-1 35
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 4 (a)
OneToMany
Species where no ortholog for DAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for DAB1 Gene

Paralogs for DAB1 Gene

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

Variants for DAB1 Gene

Sequence variations from dbSNP and Humsavar for DAB1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs746363033 Likely benign 57,015,252(+) CTGCC(C/T)GGCCA reference, missense
rs1004297 -- 58,104,522(+) TTTCC(A/C)CAATT intron-variant
rs10047071 -- 57,375,990(+) GACAA(C/T)TGTCA intron-variant
rs10047072 -- 57,375,947(+) CTGTC(G/T)TAAGG intron-variant
rs10047073 -- 57,375,959(+) AGTTT(C/G)ATATA intron-variant

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)

Relevant External Links for DAB1 Gene

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

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

Disorders for DAB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DAB1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lissencephaly with cerebellar hypoplasia
  • lissencephaly 2
- elite association - COSMIC cancer census association via MalaCards
Search DAB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DAB1

Genetic Association Database (GAD)
DAB1
Human Genome Epidemiology (HuGE) Navigator
DAB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DAB1
genes like me logo Genes that share disorders with DAB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DAB1 Gene

Publications for DAB1 Gene

  1. Cloning of human DAB1 and mapping to chromosome 1p31-p32. (PMID: 9790777) Lambert de Rouvroit C. … Goffinet A.M. (Genomics 1998) 2 3 4 64
  2. AKT-independent Reelin signaling requires interactions ofA heterotrimeric Go and Src. (PMID: 26441085) Cho S.K. … Lee Y.D. (Biochem. Biophys. Res. Commun. 2015) 2 3 64
  3. Involvement of Dab1 in APP processing and beta-amyloid deposition in sporadic Creutzfeldt-Jakob patients. (PMID: 19853035) GavA-n R. … del RA-o J.A. (Neurobiol. Dis. 2010) 3 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for DAB1 Gene

Sources for DAB1 Gene

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