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

Gene ID: 1600, updated on 12-Nov-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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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
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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)

Genotypes

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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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

Gene LinkOut

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