Human Gene DAB1 (ENST00000371236.7_10) from GENCODE V47lift37
  Description: DAB adaptor protein 1, transcript variant 6 (from RefSeq NM_001365792.1)
Gencode Transcript: ENST00000371236.7_10
Gencode Gene: ENSG00000173406.16_13
Transcript (Including UTRs)
   Position: hg19 chr1:57,460,451-57,889,732 Size: 429,282 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr1:57,476,368-57,756,702 Size: 280,335 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:57,460,451-57,889,732)mRNA (may differ from genome)Protein (555 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DAB1_HUMAN
DESCRIPTION: RecName: Full=Disabled homolog 1;
FUNCTION: Adapter molecule functioning in neural development. May regulate SIAH1 activity (By similarity).
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.
DOMAIN: The PID domain specifically binds to the Asn-Pro-Xaa- Tyr(P) motif found in many tyrosine-phosphorylated proteins.
PTM: 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).
SIMILARITY: Contains 1 PID domain.
SEQUENCE CAUTION: Sequence=BAE06094.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DAB1
Diseases sorted by gene-association score: spinocerebellar ataxia 37* (900), lissencephaly with cerebellar hypoplasia (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.97 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 52.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.80267-0.460 Picture PostScript Text
3' UTR -819.103366-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom

Pfam Domains:
PF00640 - Phosphotyrosine interaction domain (PTB/PID)

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on O75553
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043548 phosphatidylinositol 3-kinase binding

Biological Process:
GO:0001764 neuron migration
GO:0007162 negative regulation of cell adhesion
GO:0007264 small GTPase mediated signal transduction
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007420 brain development
GO:0007494 midgut development
GO:0007628 adult walking behavior
GO:0016358 dendrite development
GO:0021517 ventral spinal cord development
GO:0021589 cerebellum structural organization
GO:0021795 cerebral cortex cell migration
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021813 cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration
GO:0021942 radial glia guided migration of Purkinje cell
GO:0021987 cerebral cortex development
GO:0030154 cell differentiation
GO:0042493 response to drug
GO:0045666 positive regulation of neuron differentiation
GO:0045860 positive regulation of protein kinase activity
GO:0046426 negative regulation of JAK-STAT cascade
GO:0048712 negative regulation of astrocyte differentiation
GO:0050771 negative regulation of axonogenesis
GO:0051645 Golgi localization
GO:0097477 lateral motor column neuron migration

Cellular Component:
GO:0005829 cytosol
GO:0005903 brush border
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle
GO:0045177 apical part of cell
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF263547 - Homo sapiens disabled-1 (DAB1) mRNA, complete cds.
AB210012 - Homo sapiens mRNA for DAB1 variant protein, clone: fh15436.
BC112938 - Homo sapiens disabled homolog 1 (Drosophila), mRNA (cDNA clone MGC:131874 IMAGE:4510753), complete cds.
AK095513 - Homo sapiens cDNA FLJ38194 fis, clone FCBBF1000305, highly similar to Disabled homolog 1.
BC067445 - Homo sapiens disabled homolog 1 (Drosophila), mRNA (cDNA clone MGC:79272 IMAGE:6971707), complete cds.
BC067446 - Homo sapiens disabled homolog 1 (Drosophila), mRNA (cDNA clone MGC:79274 IMAGE:6971709), complete cds.
BC067447 - Homo sapiens disabled homolog 1 (Drosophila), mRNA (cDNA clone MGC:79275 IMAGE:6971710), complete cds.
KJ905724 - Synthetic construct Homo sapiens clone ccsbBroadEn_15394 DAB1 gene, encodes complete protein.
AK313144 - Homo sapiens cDNA, FLJ93635.
AB384366 - Synthetic construct DNA, clone: pF1KSDB0028, Homo sapiens DAB1 gene for disabled homolog 1, complete cds, without stop codon, in Flexi system.
AF071062 - Homo sapiens disabled-1 (DAB1) mRNA, partial cds.
CR933698 - Homo sapiens mRNA; cDNA DKFZp547H119 (from clone DKFZp547H119).
MK015668 - Homo sapiens DAB1 (DAB1) mRNA, complete cds, alternatively spliced.
AK055341 - Homo sapiens cDNA FLJ30779 fis, clone FEBRA2000815.
JD021315 - Sequence 2339 from Patent EP1572962.
JD032902 - Sequence 13926 from Patent EP1572962.
JD153893 - Sequence 134917 from Patent EP1572962.
JD438271 - Sequence 419295 from Patent EP1572962.
JD257821 - Sequence 238845 from Patent EP1572962.
JD540122 - Sequence 521146 from Patent EP1572962.
JD154162 - Sequence 135186 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75553 (Reactome details) participates in the following event(s):

R-HSA-8855232 RELN:VLDLR binds DAB1
R-HSA-8855237 FYN phosphorylates DAB1 in RELN:VLDLR:DAB1:SH3KBP1
R-HSA-8855259 RELN:VLDLR:DAB1 binds SH3KBP1
R-HSA-8866376 Reelin signalling pathway
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A4FU90, B3KTG3, DAB1_HUMAN, ENST00000371236.1, ENST00000371236.2, ENST00000371236.3, ENST00000371236.4, ENST00000371236.5, ENST00000371236.6, NM_001365792, O75553, Q4LE59, Q5T6M6, Q5T6M9, Q5T835, Q5T836, Q5T837, Q6NWS9, Q6NWT0, Q6NWT1, Q9NYA8, uc318izz.1, uc318izz.2
UCSC ID: ENST00000371236.7_10
RefSeq Accession: NM_001365792.1
Protein: O75553 (aka DAB1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DAB1:
sca37 (Spinocerebellar Ataxia Type 37)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.