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

Gene ID: 1600, updated on 25-Nov-2021

Summary

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
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
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Genomic context

See DAB1 in Genome Data Viewer
Location:
1p32.2-p32.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (56994778..58546726, complement)
105.20201022 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 LOC105378745 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 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 ribosomal protein S20 pseudogene 5 Neighboring gene DAB1 antisense RNA 1 Neighboring gene uncharacterized LOC105378746 Neighboring gene Sharpr-MPRA regulatory region 8485 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 Neighboring gene ribosomal protein S26 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 8067 Neighboring gene VKORC1 pseudogene 2 Neighboring gene uncharacterized LOC107984960 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.
GeneReviews: Not available
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
GeneReviews: Not available
Common genetic variation and the control of HIV-1 in humans.
GeneReviews: Not available
Genetic variants associated with disordered eating.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
GeneReviews: Not available
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
GeneReviews: Not available
Spinocerebellar ataxia 37
MedGen: C3889636 OMIM: 615945 GeneReviews: Spinocerebellar Ataxia Type 37
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein kinase activity 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 small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in ventral spinal cord development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
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

Preferred Names
disabled homolog 1
Names
DAB1, reelin adaptor protein
Dab reelin signal transducer 1
Dab, reelin signal transducer, homolog 1

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_046914.2 RefSeqGene

    Range
    5045..1260770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL109944, AL139219, AL354883, AL357373, AL391826, AL663085
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  2. NM_001353983.2NP_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:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  3. NM_001353985.2NP_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:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  4. NM_001353986.2NP_001340915.1  disabled homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, DA771359, KF495961
    Conserved Domains (2) summary
    PHA03247
    Location:237435
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  5. NM_001365792.1NP_001352721.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, KF495961
    Related
    ENSP00000360280.1, ENST00000371236.7
    Conserved Domains (2) summary
    PHA03247
    Location:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  6. NM_001365793.1NP_001352722.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL139219, AL161740, AL354883, AL355004, KF495961
    Related
    ENSP00000387581.3, ENST00000414851.6
    Conserved Domains (2) summary
    PHA03247
    Location:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  7. NM_001365794.2NP_001352723.1  disabled homolog 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL139219, AL354883, AL442223
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  8. NM_001365795.2NP_001352724.1  disabled homolog 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL139219, AL354883, AL442223
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  9. NM_001379461.1NP_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:237435
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  10. NM_001379462.1NP_001366391.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL109944, AL139219, AL161740, AL354883, AL357373, AL391826, AL663085, KF495961
    Conserved Domains (2) summary
    PHA03247
    Location:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
  11. NM_021080.5NP_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:235437
    PHA03247; large tegument protein UL36; Provisional
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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