DAB1 disabled homolog 1 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: DAB1provided by HGNC
Official Full Name: disabled homolog 1 (Drosophila)provided by HGNC
Primary source: HGNC:2661
Locus tag: RP6-239D12.2
See related: Ensembl:ENSG00000173406; HPRD:04582; MIM:603448; Vega:OTTHUMG00000008391
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
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. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 1p32-p31

Sequence :: Chromosome: 1; NC_000001.10 (57463579..58716211, complement)

See DAB1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

we report for the first time, that DAB1 is significantly up-regulated in human frontal cortex brain samples of Alzheimer disease patients
Title: The AICD interacting protein DAB1 is up-regulated in Alzheimer frontal cortex brain samples and causes deregulation of proteins involved in gene expression changes.
Dab1, an essential component of the reelin pathway, is required for glia-independent somal translocation in the neocortex.
Title: Reelin regulates cadherin function via Dab1/Rap1 to control neuronal migration and lamination in the neocortex.
Fe65 and Dab1 compete for binding to APP. Dab1 significantly decreased the amount of APP bound to LRP and the level of secreted APP and APP-CTF in LRP expressing cells
Title: Dab1 binds to Fe65 and diminishes the effect of Fe65 or LRP1 on APP processing.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Thus, the present observations suggest a correlation between Dab1 phosphorylation, Abeta deposition and PrP(sc) type in sCJD.
Title: Involvement of Dab1 in APP processing and beta-amyloid deposition in sporadic Creutzfeldt-Jakob patients.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
ligation of ApoER2 by APC signals via Dab1 phosphorylation and subsequent activation of PI3K and Akt and inactivation of GSK3beta, thereby contributing to APC's beneficial effects on cells.
Title: Activated protein C ligation of ApoER2 (LRP8) causes Dab1-dependent signaling in U937 cells.

Submit: New GeneRIF Correction See all (24)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.

Common genetic variation and the control of HIV-1 in humans.

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Products	Interactant	Other Gene	Source	Pubs	Description
O75553	P51693	APLP1	HPRD	PubMed
O75553	Q06481	APLP2	HPRD	PubMed
O75553	P05067	APP	HPRD	PubMed
O75553	Q00535	CDK5	HPRD	PubMed
O75553	P46108	CRK	HPRD	PubMed
O75553	P46109	CRKL	HPRD	PubMed
O75553	Q5VWQ8	DAB2IP	HPRD	PubMed
O75553	P05107	ITGB2	HPRD	PubMed
O75553	P05106	ITGB3	HPRD	PubMed
O75553	P18084	ITGB5	HPRD	PubMed
O75553	P26010	ITGB7	HPRD	PubMed
O75553	P01130	LDLR	HPRD	PubMed
O75553	Q07954	LRP1	HPRD	PubMed
O75553	P98164	LRP2	HPRD	PubMed
O75553	Q14114	LRP8	HPRD	PubMed
O75553	P43034	PAFAH1B1	HPRD	PubMed
O75553	Q9HCL0	PCDH18	HPRD	PubMed
O75553	P19174	PLCG1	HPRD	PubMed
O75553	Q06124	PTPN11	HPRD	PubMed
O75553	P78509	RELN	HPRD	PubMed
O75553	Q8IUQ4	SIAH1	HPRD	PubMed
O75553	P12931	SRC	HPRD	PubMed
O75553	P98155	VLDLR	HPRD	PubMed
BioGRID:107970	BioGRID:106830	APLP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107970	BioGRID:106831	APLP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107970	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:107970	BioGRID:110141	LDLR	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107970	BioGRID:110215	LRP1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107970	BioGRID:110216	LRP2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107970	BioGRID:113579	LRP8	BioGRID	PubMed	Two-hybrid
BioGRID:107970	BioGRID:110730	MYO6	BioGRID	PubMed	Reconstituted Complex
BioGRID:107970	BioGRID:112372	SIAH1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107970	BioGRID:113277	VLDLR	BioGRID	PubMed	Two-hybrid

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: disabled homolog 1

Names: disabled homolog 1

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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.

mRNA and Protein(s)

NM_021080.3 → NP_066566.3 disabled homolog 1

Status: REVIEWED

Source sequence(s)

AK095513

Consensus CDS

CCDS607.1

UniProtKB/Swiss-Prot

O75553

Related

ENSP00000360278, ENST00000371234

Conserved Domains (2) summary

cd01215
Location:28 – 168
Blast Score: 633

Dab; Disabled (Dab) Phosphotyrosine-binding domain

pfam09770
Location:297 – 436
Blast Score: 96

PAT1; Topoisomerase II-associated protein PAT1

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

57463579..58716211, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

55576284..56827706, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL080278.7 (2000..104512)	None
genomic	AL109944.19 (100..140372)	None
genomic	AL137855.10 (2000..106969)	None
genomic	AL139219.12	CAI19217.1
		CAI19218.1
		CAI19219.1
		CAI19220.1
		CAI19221.1
genomic	AL139219.12	CAI19217.1
		CAI19218.1
		CAI19219.1
		CAI19220.1
		CAI19221.1
genomic	AL161740.16	CAI18815.1
		CAI18816.1
		CAI18817.1
genomic	AL161740.16	CAI18815.1
		CAI18816.1
		CAI18817.1
genomic	AL354883.14	CAI22360.1
		CAI22361.1
		CAI22362.1
		CAI22364.1
genomic	AL354883.14	CAI22360.1
		CAI22361.1
		CAI22362.1
		CAI22364.1
genomic	AL355004.11	None
genomic	AL357373.8 (2000..76669)	None
genomic	AL359739.8 (2000..170283)	None
genomic	AL365367.10	None
genomic	AL390243.22 (2000..82596)	None
genomic	AL391826.7 (2000..68223)	None
genomic	AL442223.13 (2000..54682)	None
genomic	AL445193.6 (2000..66701)	None
genomic	AL627090.3 (2000..37436)	None
genomic	AL663085.5 (2000..31140)	None
genomic	AY174217.1	None
genomic	CH471059.2	EAX06637.1
		EAX06638.1
mRNA	AB210012.1	BAE06094.1
mRNA	AF071062.1	AAC70068.1
mRNA	AF525763.1	AAM83107.1
mRNA	AK095513.1	BAG53075.1
mRNA	AK313144.1	None
mRNA	BC067445.1	AAH67445.1
mRNA	BC067446.1	AAH67446.1
mRNA	BC067447.1	AAH67447.1
mRNA	BC112938.1	AAI12939.1
mRNA	CR933698.1	None