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

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; 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and the control of HIV-1 in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144583 (e-PCR)
- UniSTS:172294

AL009894 (e-PCR)
- UniSTS:60169

D1S2513 (e-PCR)
- UniSTS:154123

AL009547 (e-PCR)
- UniSTS:59922

RH122513 (e-PCR)
- UniSTS:138515

D1S2890 (e-PCR), detects polymorphism
- UniSTS:72469

D1S2356 (e-PCR)
- UniSTS:1563

D1S2160 (e-PCR)
- UniSTS:57116

G16323 (e-PCR)
- UniSTS:38942

AL009699 (e-PCR)
- UniSTS:19744

SHGC-74884 (e-PCR)
- UniSTS:17441

D1S2650 (e-PCR), detects polymorphism
- UniSTS:57634

D11S2560 (e-PCR)
- UniSTS:37928

AL009666 (e-PCR)
- UniSTS:36396

SHGC-152268 (e-PCR)
- UniSTS:177453

D1S1150 (e-PCR), detects polymorphism
- UniSTS:149039

D8S2279 (e-PCR)
- UniSTS:473907

D1S3042 (e-PCR)
- UniSTS:35127

SHGC-83452 (e-PCR)
- UniSTS:101944

B335YE1 (e-PCR)
- UniSTS:14907

D1S476 (e-PCR)
- UniSTS:48700

D1S476 (e-PCR)
- UniSTS:48701

G20250 (e-PCR)
- UniSTS:25407

D1S2665 (e-PCR), detects polymorphism
- UniSTS:69696

A005B44 (e-PCR)
- UniSTS:25408

SHGC-152967 (e-PCR)
- UniSTS:183360

AL033906 (e-PCR)
- UniSTS:93782

D1S85 (e-PCR)
- UniSTS:148823

SHGC-30038 (e-PCR)
- UniSTS:21345

AFMa230vh5 (e-PCR)
- UniSTS:16998

G63689 (e-PCR)
- UniSTS:140651

D10S16 (e-PCR)
- UniSTS:155756

AL009865 (e-PCR)
- UniSTS:29042

AL033931 (e-PCR)
- UniSTS:93814

SHGC-58121 (e-PCR)
- UniSTS:52604

D1S2447 (e-PCR)
- UniSTS:23421

RH79717 (e-PCR)
- UniSTS:92544

G34831 (e-PCR)
- UniSTS:36224

SHGC-142769 (e-PCR)
- UniSTS:171648

AL034063 (e-PCR)
- UniSTS:93825

RH120342 (e-PCR)
- UniSTS:132482

SHGC-35085 (e-PCR)
- UniSTS:44932

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-151172 (e-PCR)
- UniSTS:173460

AL034280 (e-PCR)
- UniSTS:94101

RH120961 (e-PCR)
- UniSTS:134038

AL034286 (e-PCR)
- UniSTS:94106

AL033947 (e-PCR)
- UniSTS:93851

AL034293 (e-PCR)
- UniSTS:94116

AL009709 (e-PCR)
- UniSTS:50603

D1S2457 (e-PCR)
- UniSTS:35245

AL034309 (e-PCR)
- UniSTS:94132

D1S3021 (e-PCR)
- UniSTS:82372

D1S2867 (e-PCR), detects polymorphism
- UniSTS:59077

SHGC-78630 (e-PCR)
- UniSTS:102086

AL034326 (e-PCR)
- UniSTS:94152

SHGC-81128 (e-PCR)
- UniSTS:102346

RH78213 (e-PCR)
- UniSTS:36304

RH98681 (e-PCR)
- UniSTS:92886

Dab1 (e-PCR), detects polymorphism
- UniSTS:142824

WI-14549 (e-PCR)
- UniSTS:26354

AL009501 (e-PCR)
- UniSTS:8949

SHGC-149740 (e-PCR)
- UniSTS:182005

SHGC-142109 (e-PCR)
- UniSTS:171259

D1S2234 (e-PCR)
- UniSTS:68351

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

NG_046914.3 RefSeqGene

Range

1127666..1556948

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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