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

Gene ID: 1600, updated on 17-Jun-2019

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

Genomic context

See DAB1 in Genome Data Viewer
Location:
1p32.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (56994778..58250547, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (57460453..58716211, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378745 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 Neighboring gene complement C8 alpha chain Neighboring gene complement C8 beta chain Neighboring gene uncharacterized LOC105378747 Neighboring gene ribosomal protein S20 pseudogene 5 Neighboring gene DAB1 antisense RNA 1 Neighboring gene uncharacterized LOC105378746 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 Neighboring gene ribosomal protein S26 pseudogene 15 Neighboring gene VKORC1 pseudogene 2 Neighboring gene uncharacterized LOC107984960 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia 37
MedGen: C3889636 OMIM: 615945 GeneReviews: Spinocerebellar Ataxia Type 37
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NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem (from Pathway Interaction Database)
    Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem
    Lissencephaly gene (LIS1) in neuronal migration and development
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Reelin signaling pathway, organism-specific biosystem
    Reelin signaling pathway
  • Reelin signalling pathway, organism-specific biosystem (from REACTOME)
    Reelin signalling pathway, organism-specific biosystemReelin (RELN) is an extracellular, multifunctional signal glycoprotein that controls not only the positioning of neurons in the developing brain, but also their growth, maturation, and synaptic activ...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...

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
phosphatidylinositol 3-kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi localization IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration IEA
Inferred from Electronic Annotation
more info
 
cerebellum structural organization IEA
Inferred from Electronic Annotation
more info
 
dendrite development IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
lateral motor column neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midgut development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of JAK-STAT cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
radial glia guided migration of Purkinje cell IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
ventral spinal cord development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density 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)

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
    5001..1260770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 8 and 9, encodes isoform 2.
    Source sequence(s)
    AL354883, CR933698, DA805938
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  2. NM_001353983.1NP_001340912.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 4, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, KF495961
    Consensus CDS
    CCDS607.1
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:235437
    Atrophin-1; Atrophin-1 family
  3. NM_001353985.2NP_001340914.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 3, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, KF495961
    Consensus CDS
    CCDS607.1
    Related
    ENSP00000387581.3, ENST00000414851.6
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:235437
    Atrophin-1; Atrophin-1 family
  4. NM_001353986.2NP_001340915.1  disabled homolog 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 3.
    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, DA771359, KF495961
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:237435
    Atrophin-1; Atrophin-1 family
  5. NM_001365792.1NP_001352721.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 3, 4, and 7, encodes isoform 1.
    Source sequence(s)
    AL139219, AL161740, AL354883, AL442223, KF495961
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:235437
    Atrophin-1; Atrophin-1 family
  6. NM_001365793.1NP_001352722.1  disabled homolog 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 3, 4, and 6, encodes isoform 1.
    Source sequence(s)
    AL139219, AL161740, AL354883, AL355004, KF495961
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:235437
    Atrophin-1; Atrophin-1 family
  7. NM_001365794.1NP_001352723.1  disabled homolog 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 2 and 9, encodes isoform 2.
    Source sequence(s)
    AL139219, AL354883, AL442223
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  8. NM_001365795.1NP_001352724.1  disabled homolog 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 2 and 8, encodes isoform 2.
    Source sequence(s)
    AL139219, AL354883, AL442223
    Conserved Domains (1) summary
    cl17171
    Location:2569
    PH-like; Pleckstrin homology-like domain
  9. NM_021080.5NP_066566.3  disabled homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_066566.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 3, 4, 6, and 7 all encode the same isoform (1).
    Source sequence(s)
    AK095513, AL161740, KF495961
    Consensus CDS
    CCDS607.1
    UniProtKB/Swiss-Prot
    O75553
    Conserved Domains (2) summary
    cd01215
    Location:25174
    PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
    cl26464
    Location:235437
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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..58250547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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