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    DAB1 DAB adaptor protein 1 [ Homo sapiens (human) ]

    Gene ID: 1600, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DAB1provided by HGNC
    Official Full Name
    DAB adaptor protein 1provided by HGNC
    Primary source
    HGNC:HGNC:2661
    See related
    Ensembl:ENSG00000173406 MIM:603448; AllianceGenome:HGNC:2661
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCA37
    Summary
    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]
    Expression
    Biased expression in small intestine (RPKM 6.3), duodenum (RPKM 4.1) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAB1 in Genome Data Viewer
    Location:
    1p32.2-p32.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (56994778..58546726, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (56873660..58424702, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (57460451..59012398, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9770 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 Neighboring gene complement C8 alpha chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:57577767-57578301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1080 Neighboring gene complement C8 beta chain Neighboring gene uncharacterized LOC105378747 Neighboring gene Sharpr-MPRA regulatory region 9062 Neighboring gene Sharpr-MPRA regulatory region 9243 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:57823007-57823637 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:58063767-58063932 Neighboring gene NANOG hESC enhancer GRCh37_chr1:58071492-58072000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:58088355-58088856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:58088857-58089356 Neighboring gene ribosomal protein S20 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:58307132-58307294 Neighboring gene DAB1 antisense RNA 1 Neighboring gene uncharacterized LOC105378746 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:58468631-58469260 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:58469261-58469890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:58472761-58473729 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:58496743-58497320 Neighboring gene Sharpr-MPRA regulatory region 8485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:58530099-58530600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1082 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:58597302-58597906 Neighboring gene ribosomal protein S26 pseudogene 15 Neighboring gene NANOG hESC enhancer GRCh37_chr1:58634820-58635394 Neighboring gene NANOG hESC enhancer GRCh37_chr1:58651325-58651826 Neighboring gene Sharpr-MPRA regulatory region 8067 Neighboring gene MPRA-validated peak251 silencer Neighboring gene VKORC1 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:58857658-58858158 Neighboring gene uncharacterized LOC107984960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:59011807-59012433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:59041692-59042387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:59042388-59043082 Neighboring gene RNA, 7SL, cytoplasmic 713, pseudogene Neighboring gene tumor associated calcium signal transducer 2 Neighboring gene OMA1 zinc metallopeptidase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning of human DAB1 and mapping to chromosome 1p31-p32. Lambert de Rouvroit C, et al. Genomics, 1998 Oct 15. PMID 9790777
    2. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. Seixas AI, et al. Am J Hum Genet, 2017 Jul 6. PMID 28686858, Free PMC Article
    3. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Corral-Juan M, et al. Brain, 2018 Jul 1. PMID 29939198
    4. Functional enrichment analysis of three Alzheimer's disease genome-wide association studies identities DAB1 as a novel candidate liability/protective gene. Gao H, et al. Biochem Biophys Res Commun, 2015 Aug 7. PMID 26028559
    5. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. Serrano-Munuera C, et al. JAMA Neurol, 2013 Jun. PMID 23700170

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The heterotrimeric kinesin-2 family member KIF3A directly binds to disabled-1 (Dab1).
      Title: The heterotrimeric kinesin-2 family member KIF3A directly binds to disabled-1 (Dab1).
    2. ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
      Title: ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
    3. the repeat region associated with SCA37 is highly polymorphic, mutable, and unstable, and the AluJb seems to have had a role in these features, as the (ATTTC)n insertion was probably originated by one or more T>C substitutions in the Alu element.
      Title: Mutational mechanism for DAB1 (ATTTC)(n) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.
    4. Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis.
      Title: Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis.
    5. Inhibition of microRNA-300 inhibits cell adhesion, migration, and invasion of prostate cancer cells by promoting the expression of DAB1.
      Title: Inhibition of microRNA-300 inhibits cell adhesion, migration, and invasion of prostate cancer cells by promoting the expression of DAB1.
    6. Disabled 1 Is Part of a Signaling Pathway Activated by Epidermal Growth Factor Receptor.
      Title: Disabled 1 Is Part of a Signaling Pathway Activated by Epidermal Growth Factor Receptor.
    7. Our study strongly suggests that Dab1 may be a potential tumour suppressor gene in breast cancer.
      Title: Disabled-1 is down-regulated in clinical breast cancer and regulates cell apoptosis through NF-κB/Bcl-2/caspase-9.
    8. The appearance of DAB1 and Reelin during fetal kidney development confirms their potential significant role in the formation of kidney structure or function. High DAB1 expression in the DCT implies its regulatory role in tubular formation or function maintenance during development.
      Title: Expression and localization of DAB1 and Reelin during normal human kidney development.
    9. our findings provide direct evidence for the impaired Reelin-DAB1 transduction cascade in a patient with deleterious variants in the RELN gene, suggest, for the first time, an abnormal interplay between Reelin-DAB1 and mTORC1 signaling pathways in a patient with nonsyndromic ASD
      Title: Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.
    10. In intestine a truncated Dab1 variant transmits the reelin signal and may play a role in clathrin-mediated apical endocytosis and in the control of cell-to-cell junction assembly. Dab1 variant may be a nucleocytoplasmic shuttling protein, inferred from its sequence and nuclear location.
      Title: Small and large intestine express a truncated Dab1 isoform that assembles in cell-cell junctions and co-localizes with proteins involved in endocytosis.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spinocerebellar ataxia type 37
    MedGen: C3889636 OMIM: 615945 GeneReviews: Spinocerebellar Ataxia Type 37
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.
    EBI GWAS Catalog
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: OMA1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellum structural organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lateral motor column neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in layer formation in cerebral cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in radial glia guided migration of Purkinje cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in radial glia-guided pyramidal neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reelin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synapse maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventral spinal cord development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    disabled homolog 1
    Names
    DAB1, reelin adaptor protein
    Dab reelin signal transducer 1
    Dab, reelin signal transducer, homolog 1
    spinocerebellar ataxia 37
    yotari

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046914.3 RefSeqGene

      Range
      1127666..1556948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001353980.2 → NP_001340909.1  disabled homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL109944, AL139219, AL354883, AL357373, AL391826, AL663085
      Conserved Domains (1) summary
      cl17171
      Location:25 → 69
      PH-like; Pleckstrin homology-like domain

    2. NM_001353983.2 → NP_001340912.1  disabled homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL161740, AL354883, AL442223, KF495961
      Consensus CDS
      CCDS607.1
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    3. NM_001353985.2 → NP_001340914.1  disabled homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL161740, AL354883, AL442223, KF495961
      Consensus CDS
      CCDS607.1
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    4. NM_001353986.2 → NP_001340915.1  disabled homolog 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL161740, AL354883, AL442223, DA771359, KF495961
      Conserved Domains (2) summary
      PHA03247
      Location:237 → 435
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    5. NM_001365792.1 → NP_001352721.1  disabled homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL161740, AL354883, AL442223, KF495961
      Consensus CDS
      CCDS607.1
      Related
      ENSP00000360280.1, ENST00000371236.7
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    6. NM_001365793.1 → NP_001352722.1  disabled homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL161740, AL354883, AL355004, KF495961
      Consensus CDS
      CCDS607.1
      Related
      ENSP00000387581.3, ENST00000414851.6
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    7. NM_001365794.2 → NP_001352723.1  disabled homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL354883, AL442223
      Conserved Domains (1) summary
      cl17171
      Location:25 → 69
      PH-like; Pleckstrin homology-like domain

    8. NM_001365795.2 → NP_001352724.1  disabled homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL139219, AL354883, AL442223
      Conserved Domains (1) summary
      cl17171
      Location:25 → 69
      PH-like; Pleckstrin homology-like domain

    9. NM_001379461.1 → NP_001366390.1  disabled homolog 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC104464, AL109944, AL139219, AL161740, AL354883, AL365187, AL365367, AL663085, KF495961
      Conserved Domains (2) summary
      PHA03247
      Location:237 → 435
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    10. NM_001379462.1 → NP_001366391.1  disabled homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL109944, AL139219, AL161740, AL354883, AL357373, AL391826, AL663085, KF495961
      Consensus CDS
      CCDS607.1
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    11. NM_021080.5 → NP_066566.3  disabled homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_066566.3

      Status: REVIEWED

      Source sequence(s)
      AK095513, AL161740, KF495961
      Consensus CDS
      CCDS607.1
      UniProtKB/Swiss-Prot
      O75553
      Conserved Domains (2) summary
      PHA03247
      Location:235 → 437
      PHA03247; large tegument protein UL36; Provisional
      cd01215
      Location:25 → 174
      PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      56994778..58546726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      56873660..58424702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75553.3 GenPept UniProtKB/Swiss-Prot:O75553

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