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DAB1 Gene

protein-coding   GIFtS: 56
GCID: GC01M057460

Dab, Reelin Signal Transducer, Homolog 1 (Drosophila)

(Previous names: disabled (Drosophila) homolog 1, disabled homolog 1 (Drosophila),...)
  See DAB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section


Aliases
Dab, Reelin Signal Transducer, Homolog 1 (Drosophila)1 2
Dab Reelin Signal Transducer 11 2
Disabled (Drosophila) Homolog 11
Disabled Homolog 1 (Drosophila)1
Disabled Homolog 12

External Ids:    HGNC: 26611   Entrez Gene: 16002   Ensembl: ENSG000001734067   OMIM: 6034485   UniProtKB: O755533   

Export aliases for DAB1 gene to outside databases

Previous GC identifiers: GC01M057380 GC01M056378 GC01M056821 GC01M056833 GC01M057175 GC01M055576


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section


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 (Dab, reelin signal transducer, homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with DAB1 include lissencephaly with cerebellar hypoplasia, and ciliary dyskinesia, primary, 2. GO annotations related to this gene include phosphatidylinositol 3-kinase binding. An important paralog of this gene is DAB2.

UniProtKB/Swiss-Prot: DAB1_HUMAN, O75553
Function: Adapter molecule functioning in neural development. May regulate SIAH1 activity (By similarity)

Gene Wiki entry for DAB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DAB1 gene promoter:
         TBP   AP-1   ATF-2   N-Myc   IRF-2   TFIID   Chx10   aMEF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDAB1 promoter sequence
   Search Chromatin IP Primers for DAB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DAB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32-p31   Ensembl cytogenetic band:  1p32.1   HGNC cytogenetic band: 1p32-p31

DAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DAB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M057460:  view genomic region     (about GC identifiers)

Start:
57,460,451 bp from pter      End:
59,012,406 bp from pter
Size:
1,551,956 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
About This Section


UniProtKB/Swiss-Prot: DAB1_HUMAN, O75553 (See protein sequence)
Recommended Name: Disabled homolog 1  
Size: 588 amino acids; 63775 Da
Subunit: 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
Sequence caution: Sequence=BAE06094.1; Type=Erroneous initiation;
Secondary accessions: A4FU90 B3KTG3 Q4LE59 Q5T6M6 Q5T6M9 Q5T835 Q5T836 Q5T837 Q6NWS9 Q6NWT0
Q6NWT1 Q9NYA8
Alternative splicing: 6 isoforms:  O75553-1   O75553-2   O75553-3   O75553-4   O75553-5   O75553-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DAB1: NX_O75553

Explore proteomics data for DAB1 at MOPED

Post-translational modifications: 

  • Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons (By similarity). Also
    phosphorylated on Ser-524 independently of reelin signaling (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DAB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066566.3  
    ENSEMBL proteins: 
     ENSP00000360280   ENSP00000360275   ENSP00000360276   ENSP00000329120   ENSP00000360274  
     ENSP00000360278   ENSP00000395296   ENSP00000387581   ENSP00000409328  

    DAB1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DAB1

     
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    Search GeneTex for Proteins for DAB1 

     
    antibodies-online proteins for DAB1 (5 products) 

     
    antibodies-online peptides for DAB1

    DAB1 Antibody Products:

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                        DAB1 Antibodies
    antibodies-online antibodies for DAB1 (135 products) 

    DAB1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DAB1
    Cloud-Clone Corp. CLIAs for DAB1
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    antibodies-online kits for DAB1 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR028761 Dab
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry O75553

    ProtoNet protein and cluster: O75553

    1 Blocks protein domain: IPB006020 Phosphotyrosine interaction domain

    UniProtKB/Swiss-Prot: DAB1_HUMAN, O75553
    Domain: The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated
    proteins
    Similarity: Contains 1 PID domain


    Find genes that share domains with DAB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Clones from OriGene, GenScript, Sino Biological, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DAB1_HUMAN, O75553
    Function: Adapter molecule functioning in neural development. May regulate SIAH1 activity (By similarity)

         Genatlas biochemistry entry for DAB1:
    murine disabled-1 homolog,expressed in brain and likely involved in brain development

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0043548phosphatidylinositol 3-kinase binding IEA--
         
    Find genes that share ontologies with DAB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DAB1:
     Increased homologous recombina 

         12 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Dab1):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 
     skeleton  vision/eye 

    Find genes that share phenotypes with DAB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DAB1: Dab1tm1Cpr Dab1tm1.1Bwh

       genOway: Develop your customized and physiologically relevant rodent model for DAB1

        Search Taconic Biosciences for animal models for DAB1 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for DAB1

    miRNA
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    hsa-miR-1267 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidDAB1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DAB1
    Predesigned siRNA for gene silencing in human, mouse, rat DAB1

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    Sino Biological Human cDNA Clone for DAB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAB1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005903brush border IEA--
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane IEA--
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with DAB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for DAB1 About   (see all 6)  
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    2Reelin signaling pathway
    Reelin signaling pathway
    3Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    4Neuroscience
    Neuroscience
    5Lissencephaly gene (LIS1) in neuronal migration and development
    Lissencephaly gene (LIS1) in neuronal migration and development


    Find genes that share SuperPaths with DAB1           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DAB1
        Guidance Cues and Growth Cone Motility
    Reelin Pathway (Cajal-Retzius cells)

    2 Cell Signaling Technology (CST) Pathways for DAB1
        Neuroscience
    Tyrosine Kinases / Adaptors

    2 BioSystems Pathways for DAB1
        Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DAB1
    Interactions:

        GeneGlobe Interaction Network for DAB1

    Selected Interacting proteins for DAB1 (O755532, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3MINT-74508 I2D: score=2 
    ERBB3P218602, 3MINT-74509 I2D: score=2 
    LDLRP011303I2D: score=5 
    LRP8Q141143I2D: score=5 
    VLDLRP981553I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration ----
    GO:0007162negative regulation of cell adhesion IEA--
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007420brain development ----
    GO:0007494midgut development IEA--

    Find genes that share ontologies with DAB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DAB1

    6 Novoseek inferred chemical compound relationships for DAB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 57.9 46 18981215 (3), 15718228 (3), 15883038 (3), 16046028 (2) (see all 23)
    phosphotyrosine 54.6 9 16951405 (2), 15632144 (1), 12882964 (1), 12737822 (1) (see all 5)
    phosphoinositide 39.5 7 15883038 (2), 15632144 (1), 16046028 (1)
    calcium 0 1 16148228 (1)
    glutamate 0 1 16148228 (1)
    nmda 0 2 16148228 (2)



    Find genes that share compounds with DAB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for DAB1 gene: 
    NM_021080.3  

    Unigene Cluster for DAB1:

    Dab, reelin signal transducer, homolog 1 (Drosophila)
    Hs.477370  [show with all ESTs]
    Unigene Representative Sequence: AB210012
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371236 ENST00000485760(uc001cyt.1) ENST00000371231 ENST00000371232
    ENST00000332102 ENST00000371230 ENST00000489267 ENST00000473821 ENST00000477280
    ENST00000371234(uc001cys.1) ENST00000420954 ENST00000414851 ENST00000439789

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate DAB1:
    hsa-miR-1267 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidDAB1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat DAB1
      QuantiFast Probe-based Assays in human, mouse, rat DAB1

    Additional mRNA sequence: 

    AB210012.1 AF071062.1 AK055341.1 AK095513.1 AK313144.1 BC067445.1 BC067446.1 BC067447.1 
    BC112938.1 CR933698.1 

    9 DOTS entries:

    DT.99936978  DT.101976468  DT.213948  DT.100652211  DT.100714297  DT.121416633  DT.121416568  DT.92026769 
    DT.75157104 

    Selected AceView cDNA sequences (see all 67):

    AF525763 BE503413 BE672370 BC067445 NM_021080 AK095513 BX495838 CD673898 
    AA322834 BC067447 BE044577 BX955150 CD559744 BX431127 BG258401 AF263547 
    CD559585 CD559743 CD559742 AF071062 BC067446 CK130272 BF508116 CD559586 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DAB1 (see all 6)    About this scheme

    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:                                                                    -     -                                                   


    ECgene alternative splicing isoforms for DAB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DAB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DAB1 Expression
    About this image


    DAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             AII Amacrine Cells Inner Nuclear Layer
     
     Neurons
             AII Amacrine Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
    DAB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DAB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477370
        Custom PCR Arrays for DAB1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section


    This gene was present in the common ancestor of animals.

    Orthologs for DAB1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dab11 , 5 disabled homolog 1 (Drosophila)5
    disabled 11
    92.91(n)1
    96.58(a)1
      4 (47.79 cM)5
    131311  NM_177259.41  NP_796233.21 
     1036193595 
    chicken
    (Gallus gallus)
    Aves DAB11 disabled homolog 1 (Drosophila) 85.54(n)
    91.11(a)
      374083  NM_204238.1  NP_989569.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dab11 Dab, reelin signal transducer, homolog 1 78.98(n)
    84.65(a)
      100135079  NM_001113818.1  NP_001107290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dab1a1 disabled homolog 1a (Drosophila) 66.36(n)
    70.34(a)
      692351  NM_001040685.1  NP_001035775.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dab6
    Disabled
    3(a)
    1 → many
    3L(16705226-16717675)
    worm
    (Caenorhabditis elegans)
    Secernentea dab-16
    Protein DAB-1, isoform d
    6(a)
    1 → many
    II(8226132-8229150) WBGene00000894


    ENSEMBL Gene Tree for DAB1 (if available)
    TreeFam Gene Tree for DAB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for DAB1 gene
    DAB22  

    Find genes that share paralogs with DAB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section


    Selected SNPs for DAB1 (see all 25222)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866672781,2
    C,Funtested158521869(+) GTGTTC/TGGTCC 1 -- int11Minor allele frequency- T:0.01EU 593
    rs681464951,2
    C--55931324(+) ACACA-/CACACACA
    /CACACACACA
    TCCTA
    1 -- int11NA 2
    rs613820551,2
    C--56071017(+) GTGTG-/TGGCAAA 1 -- int11Minor allele frequency- TG:0.00NA 2
    rs666895271,2
    C--56163369(+) AAAAA-/A/AA  
            
    GACTT
    1 -- int11NA 2
    rs594566741,2
    C--56313402(+) TTTTT-/T/TTT 
            
    AGTTA
    1 -- int11NA 2
    rs1132809391,2
    C--56338103(+) TCTCTCACAC   
       ACA
    /-
    CACAC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs718142051,2
    C--56798069(+) TATAT-/AC    
       
    /ACAC
    ACACA
    1 -- int11CSA 2
    rs1862386621,2
    --57463103(+) AACCAC/GTTATT 1 -- ds50010--------
    rs32159431,2
    C--57463193(-) GCTTT-/TGACTT 1 -- ds50010--------
    rs1910463761,2
    --57463237(+) ACATGA/GCAAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DAB1 (57460451 - 57710451 bp, first 250kb of DAB1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DAB1 (see all 44):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748708CNV Deletion23290073
    esv2748741CNV Deletion23290073
    esv2748730CNV Deletion23290073
    esv2277330CNV Deletion18987734
    esv4838CNV Deletion18987735
    esv2748697CNV Deletion23290073
    esv1095459CNV Deletion17803354
    esv2031864CNV Deletion18987734
    esv2748774CNV Deletion23290073
    esv2748785CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DAB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 603448    OMIM disorders: --

    2 diseases for DAB1:    
    About MalaCards
    lissencephaly with cerebellar hypoplasia    ciliary dyskinesia, primary, 2


    Find genes that share disorders with DAB1           About GenesLikeMe

    1 Novoseek inferred disease relationship for DAB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 0 1 9861036 (1)

    Genetic Association Database (GAD): DAB1
    Human Genome Epidemiology (HuGE) Navigator: DAB1 (8 documents)

    Export disorders for DAB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section


    PubMed articles for DAB1 gene, integrated from 10 sources (see all 105):
    (articles sorted by number of sources associating them with DAB1)

    1. Cloning of human DAB1 and mapping to chromosome 1p31-p32. (PubMed id 9790777)1, 2, 3 Lambert de Rouvroit C. and Goffinet A.M. (Genomics 1998)
    2. Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study. (PubMed id 20600896)1, 4 Engelman C.D....Norris J.M. (J. Steroid Biochem. Mol. Biol. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)1, 4 Fellay J....Goldstein D.B. (PLoS Genet. 2009)
    6. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Disabled-1 mRNA and protein expression in developing human cortex. (PubMed id 12581169)1, 9 Meyer G....Wahle P. (Eur. J. Neurosci. 2003)
    9. DAB1 and Reelin effects on amyloid precursor protein and ApoE receptor 2 trafficking and processing. (PubMed id 16951405)1, 9 Hoe H.S....Rebeck G.W. (J. Biol. Chem. 2006)
    10. The gene encoding disabled-1 (DAB1), the intracellular adaptor of the Reelin pathway, reveals unusual complexity in human and mouse. (PubMed id 12446734)1, 9 Bar I....Goffinet A.M. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1600 HGNC: 2661 AceView: DAB1 Ensembl:ENSG00000173406 euGenes: HUgn1600
    ECgene: DAB1 H-InvDB: DAB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DAB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DAB1 gene:
    Search GeneIP for patents involving DAB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Clones from OriGene, GenScript, Sino Biological, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    About This Section


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