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Aliases for DAB1 Gene

Aliases for DAB1 Gene

  • DAB1, Reelin Adaptor Protein 2 3
  • Dab, Reelin Signal Transducer, Homolog 1 (Drosophila) 2 5
  • 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 ciliary dyskinesia, primary, 2 and lissencephaly with cerebellar hypoplasia. Among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Guidance Cues and Growth Cone Motility. 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

Promoters for DAB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DAB1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DAB1 Gene at MOPED

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)

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
GO:0045177 apical part of cell 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:0007420 brain development IEA --
GO:0007628 adult walking behavior IEA --
GO:0016358 dendrite development IEA --
GO:0021589 cerebellum structural organization 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:

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



SOURCE GeneReport for Unigene cluster for DAB1 Gene Hs.477370

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

Protein tissue co-expression partners for DAB1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia DAB1 35
  • 95.5 (n)
  • 97.66 (a)
DAB1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DAB1 35
  • 96.35 (n)
  • 98.65 (a)
DAB1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dab1 35
  • 92.91 (n)
  • 96.58 (a)
Dab1 16
Dab1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DAB1 35
  • 99.76 (n)
  • 99.82 (a)
DAB1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dab1 35
  • 93.15 (n)
  • 96.76 (a)
oppossum
(Monodelphis domestica)
Mammalia DAB1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DAB1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves DAB1 35
  • 85.54 (n)
  • 91.11 (a)
DAB1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dab1 35
  • 78.98 (n)
  • 84.65 (a)
zebrafish
(Danio rerio)
Actinopterygii dab1a 35
  • 66.36 (n)
  • 70.34 (a)
dab1a 36
  • 63 (a)
OneToMany
dab1b 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dab 36
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dab-1 36
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 4 (a)
OneToMany
Species with no ortholog for DAB1:
  • 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
rs1855377 - 57,136,638(-) AGGGC(A/G)TTGTT reference, missense
rs1053 -- 57,205,990(-) ATGCT(C/T)ATTGA intron-variant
rs77510 -- 57,329,846(-) ATTGA(C/T)TGACC intron-variant
rs77511 -- 57,329,799(-) CAGAA(A/G)GTTAA intron-variant
rs90940 -- 57,329,764(-) TCTGC(A/G)GTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483162 CNV Complex 15286789
nsv10195 CNV Gain 18304495
nsv10206 CNV Gain+Loss 18304495
nsv526087 CNV Loss 19592680
nsv943 CNV Insertion 18451855
esv25746 CNV Loss 19812545
dgv231n71 CNV Loss 21882294
nsv954 CNV Loss 18451855
esv2748697 CNV Deletion 23290073
esv2031864 CNV Deletion 18987734
nsv870908 CNV Loss 21882294
nsv966 CNV Insertion 18451855
esv26685 CNV Loss 19812545
nsv508013 CNV Loss 20534489
nsv870802 CNV Loss 21882294
nsv523574 CNV Loss 19592680
nsv871684 CNV Loss 21882294
esv272319 CNV Insertion 20981092
esv2748708 CNV Deletion 23290073
esv2748719 CNV Deletion 23290073
esv2748730 CNV Deletion 23290073
nsv871620 CNV Loss 21882294
esv2748741 CNV Deletion 23290073
esv6090 CNV Gain 19470904
nsv829937 CNV Gain 17160897
esv2663515 CNV Deletion 23128226
nsv977 CNV Insertion 18451855
esv2641726 CNV Deletion 19546169
esv2277330 CNV Deletion 18987734
esv2748752 CNV Deletion 23290073
esv4838 CNV Deletion 18987735
esv1002928 CNV Deletion 20482838
esv1095459 CNV Deletion 17803354
esv7642 CNV Loss 19470904
esv275018 CNV Loss 21479260
nsv527673 CNV Loss 19592680
esv2748763 CNV Deletion 23290073
esv268153 CNV Insertion 20981092
nsv525581 CNV Loss 19592680
esv994666 CNV Deletion 20482838
esv2676025 CNV Deletion 23128226
esv29351 CNV Loss 19812545
esv2748774 CNV Deletion 23290073
esv2748785 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
DAB1
Human Gene Mutation Database (HGMD)
DAB1

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

Disorders for DAB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DAB1 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 2
  • ics2
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 67
  2. 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 23
  3. Activated protein C ligation of ApoER2 (LRP8) causes Dab1-dependent signaling in U937 cells. (PMID: 19116273) Yang X.V. … Griffin J.H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. Disabled-1 is a large common fragile site gene, inactivated in multiple cancers. (PMID: 18008369) McAvoy S. … Smith D.I. (Genes Chromosomes Cancer 2008) 3 23
  5. Fyn modulation of Dab1 effects on amyloid precursor protein and ApoE receptor 2 processing. (PMID: 18089558) Hoe H.S. … Rebeck G.W. (J. Biol. Chem. 2008) 3 23

Products for DAB1 Gene

Sources for DAB1 Gene

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