Dab1 disabled 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dab1provided by MGI
Official Full Name: disabled 1provided by MGI
Primary source: MGI:MGI:108554
See related: Ensembl:ENSMUSG00000028519
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: scm; scr; yot; AI956902; scrambler; C630028C02Rik
Expression: Biased expression in CNS E18 (RPKM 14.1), whole brain E14.5 (RPKM 10.9) and 11 other tissues See more
Orthologs: human all

Genomic context

Location:: 4 C6; 4 47.79 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
108	current	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (103619500..104744844)
Build 37.2	previous assembly	MGSCv37 (GCF_000001635.18)	4	NC_000070.5 (104040165..104417447)

Chromosome 4 - NC_000070.6 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of Dab1 in endothelial cells leads to a reduced secretion of laminin-alpha4 and decreased activation of integrin-beta1 in glial cells, which in turn control neuronal migration and barrier properties of the neurovascular unit.
Title: Endothelial Dab1 signaling orchestrates neuro-glia-vessel communication in the central nervous system.
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.
These observations suggest that the morphogenesis in these hippocampal formation subdivisions employs different developmental mechanisms involving Dab1 function.
Title: Dab1 contributes differently to the morphogenesis of the hippocampal subdivisions.
These results suggest that deficiency of Reelin-Dab1 signal in the dorsal forebrain is involved in the pathogenesis of some symptoms of human psychiatric disorders.
Title: Dorsal Forebrain-Specific Deficiency of Reelin-Dab1 Signal Causes Behavioral Abnormalities Related to Psychiatric Disorders.
RBX2, a core component of the E3 ubiquitin ligase CRL5, is essential for retinal layering and function. RBX2 regulates the final cell position of rod bipolar cells, cone photoreceptors and Muller glia. Our data indicate that sustained RELN/DAB1 signaling, triggered by depletion of RBX2 or SOCS7 - a CRL5 substrate adaptor known to recruit DAB1 - causes rod bipolar cell misposition.
Title: RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion.
Mice with low or no Dab1 expression exhibited reduced calling rates, altered call-type usage, and differential vocal development trajectories.
Title: Mice with Dab1 or Vldlr insufficiency exhibit abnormal neonatal vocalization patterns.
Results showed that the Dab1 nuclear localization signal mutant can translocate into the nucleus via an unconventional temperature-dependent/ATP-dependent and cytoplasmic soluble factor-independent/RanGTP gradient-independent manner, suggesting that Dab1 has 2 different nuclear translocation pathways; and that the regulation of subcellular localization of Dab1 is important for the proper migration of excitatory neurons.
Title: Proper Level of Cytosolic Disabled-1, Which Is Regulated by Dual Nuclear Translocation Pathways, Is Important for Cortical Neuronal Migration.
This study showed that spontaneous Dab1 mutations causing cerebellar pathology are impaired in motor functions during the neonatal period.
Title: Behavioral effects of neonatal lesions on the cerebellar system.
an aberrant fragment of Dab1 protein (p64/60) is present in the brain of yotari mouse
Title: Aberrant fragment of Dab1 protein is present in yotari mouse.
When pregnant mice are exposed to EMF, Dab1 expression increases in the EMF-treated fetal cerebral cortex extracts as compared to controls and SHAM group.
Title: Effects of electromagnetic fields on reelin and Dab1 expression in the developing cerebral cortex.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (7) 1 citation
Targeted (11) 1 citation

Pathways from BioSystems

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Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
Lipid digestion, mobilization, and transport, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
Lipoprotein metabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Reelin signalling pathway, organism-specific biosystem (from REACTOME)
Reelin signalling pathway, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Splicing factor NOVA regulated synaptic proteins, organism-specific biosystem (from WikiPathways)
Splicing factor NOVA regulated synaptic proteins, organism-specific biosystemSynaptic Communication influenced by NOVA-splicing regulation
VLDL interactions, organism-specific biosystem (from REACTOME)
VLDL interactions, organism-specific biosystemcomputationally inferred pathway (not manually curated)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI956902 (e-PCR)
- UniSTS:179037

D4Mit46.3 (e-PCR), detects polymorphism
- UniSTS:130164

Dab1 (e-PCR), detects polymorphism
- UniSTS:506834

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

Dab1 (e-PCR), detects polymorphism
- UniSTS:142825

Homology

Homologs of the Dab1 gene: The Dab1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 281 organisms have orthologs with human gene Dab1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
SH2 domain binding	TAS Traceable Author Statement more info	PubMed
phosphatidylinositol 3-kinase binding	ISO Inferred from Sequence Orthology more info
phospholipid binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Golgi localization	IMP Inferred from Mutant Phenotype more info	PubMed
adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration	IMP Inferred from Mutant Phenotype more info	PubMed
central nervous system development	TAS Traceable Author Statement more info	PubMed
cerebellum structural organization	IMP Inferred from Mutant Phenotype more info	PubMed
cerebral cortex cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cerebral cortex radially oriented cell migration	IGI Inferred from Genetic Interaction more info	PubMed
cerebral cortex radially oriented cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cerebral cortex radially oriented cell migration	ISO Inferred from Sequence Orthology more info
dendrite development	IGI Inferred from Genetic Interaction more info	PubMed
dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
lateral motor column neuron migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lateral motor column neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organism development	IEA Inferred from Electronic Annotation more info
negative regulation of JAK-STAT cascade	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of axonogenesis	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
nervous system development	NAS Non-traceable Author Statement more info	PubMed
neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
neuron migration	ISO Inferred from Sequence Orthology more info
positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
radial glia guided migration of Purkinje cell	IGI Inferred from Genetic Interaction more info	PubMed
radial glia guided migration of Purkinje cell	IMP Inferred from Mutant Phenotype more info	PubMed
small GTPase mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
ventral spinal cord development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ventral spinal cord development	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
apical part of cell	ISO Inferred from Sequence Orthology more info
brush border	ISO Inferred from Sequence Orthology more info
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	ISO Inferred from Sequence Orthology more info
intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
membrane	ISO Inferred from Sequence Orthology more info
neuron projection	ISO Inferred from Sequence Orthology more info
neuronal cell body	ISO Inferred from Sequence Orthology more info
colocalizes_with perinuclear region of cytoplasm	IGI Inferred from Genetic Interaction more info	PubMed
postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: disabled homolog 1

Names: 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.

mRNA and Protein(s)

NM_001369046.1 → NP_001355975.1 disabled homolog 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (4), as well as variants 2 and 5, encodes isoform 2.

Source sequence(s)

AL626762, AL627134, AL645483, AL645666, AL669938, AL772211

Conserved Domains (2) summary

PRK07764
Location:255 → 436

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001369047.1 → NP_001355976.1 disabled homolog 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (5), as well as variants 2 and 4, encodes isoform 2.

Source sequence(s)

AL626762, AL627134, AL645483, AL645666, AL669938, AL772211

Conserved Domains (2) summary

PRK07764
Location:255 → 436

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001369048.1 → NP_001355977.1 disabled homolog 1 isoform 3

Status: VALIDATED

Source sequence(s)

AL626762, AL627134, AL645483, AL645666, AL669938, AL772211

Related

ENSMUSP00000102440.1, ENSMUST00000106827.7

Conserved Domains (1) summary

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001369049.1 → NP_001355978.1 disabled homolog 1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (7) encodes the longest isoform (4).

Source sequence(s)

AL626762, AL627134, AL645483, AL645666, AL669938, AL772211

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_010014.3 → NP_034144.1 disabled homolog 1 isoform 1

See identical proteins and their annotated locations for NP_034144.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks several exons and includes an alternate 3' terminal exon, compared to variant 2. It encodes isoform 1 which is shorter and has a distinct C-terminus, compared to isoform 2.

Source sequence(s)

BE947086, BY264959, Y08381

UniProtKB/Swiss-Prot

P97318

Related

ENSMUSP00000102439.1, ENSMUST00000106826.7

Conserved Domains (1) summary

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_177259.4 → NP_796233.2 disabled homolog 1 isoform 2

See identical proteins and their annotated locations for NP_796233.2

Status: VALIDATED

Description

Transcript Variant: This variant (2), as well as variants 4 and 5, encodes isoform 2.

Source sequence(s)

AK045616, BC138538, BE945099, BY264959, Y08379

Consensus CDS

CCDS18413.1

UniProtKB/Swiss-Prot

P97318

UniProtKB/TrEMBL

B2RRQ8

Related

ENSMUSP00000102443.2, ENSMUST00000106830.8

Conserved Domains (2) summary

PRK07764
Location:255 → 436

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

RNA

NR_104385.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL627134, AL645483, AL669938

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...

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

Reference GRCm38.p6 C57BL/6J

Genomic

NC_000070.6 Reference GRCm38.p6 C57BL/6J

Range

103619500..104744844

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253166.1 → XP_030109026.1 disabled homolog 1 isoform X1
XM_006502725.4 → XP_006502788.1 disabled homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006502788.1

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_017319949.2 → XP_017175438.1 disabled homolog 1 isoform X8
XM_011240426.2 → XP_011238728.1 disabled homolog 1 isoform X1

See identical proteins and their annotated locations for XP_011238728.1

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_030253165.1 → XP_030109025.1 disabled homolog 1 isoform X1
XM_017319948.1 → XP_017175437.1 disabled homolog 1 isoform X1

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_006502727.4 → XP_006502790.1 disabled homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006502790.1

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_030253170.1 → XP_030109030.1 disabled homolog 1 isoform X4
XM_030253172.1 → XP_030109032.1 disabled homolog 1 isoform X5
XM_030253175.1 → XP_030109035.1 disabled homolog 1 isoform X8
XM_030253182.1 → XP_030109042.1 disabled homolog 1 isoform X14
XM_030253180.1 → XP_030109040.1 disabled homolog 1 isoform X14
XM_030253169.1 → XP_030109029.1 disabled homolog 1 isoform X3
XM_030253177.1 → XP_030109037.1 disabled homolog 1 isoform X10
XM_006502726.2 → XP_006502789.1 disabled homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006502789.1

Conserved Domains (2) summary

PRK07764
Location:288 → 469

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd01215
Location:25 → 174

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_030253167.1 → XP_030109027.1 disabled homolog 1 isoform X2
XM_030253176.1 → XP_030109036.1 disabled homolog 1 isoform X9
XM_030253173.1 → XP_030109033.1 disabled homolog 1 isoform X6
XM_030253174.1 → XP_030109034.1 disabled homolog 1 isoform X7
XM_017319950.2 → XP_017175439.1 disabled homolog 1 isoform X8
XM_030253171.1 → XP_030109031.1 disabled homolog 1 isoform X5
XM_030253179.1 → XP_030109039.1 disabled homolog 1 isoform X13
XM_030253178.1 → XP_030109038.1 disabled homolog 1 isoform X12
XM_006502735.2 → XP_006502798.1 disabled homolog 1 isoform X11

Conserved Domains (1) summary

cl17171
Location:1 → 110

PH-like; Pleckstrin homology-like domain