Dab1 MGI Mouse Gene Detail - MGI:108554

Dab1 Gene Detail

Symbol

Dab1
Name

disabled 1
Synonyms

C630028C02Rik

Feature Type

protein coding gene
IDs

MGI:108554
NCBI Gene: 13131
Gene Overview

MyGene.info: DAB1

Sequence Map

Chr4:103619359-104744844 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

1125486 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 47.79 cM
Mapping Data

15 experiments

Human Ortholog

DAB1, DAB1, reelin adaptor protein

Vertebrate Orthologs

10

Human Ortholog

DAB1, DAB1, reelin adaptor protein
Orthology source: HomoloGene, HGNC
Synonyms

SCA37
Links

HGNC:2661

NCBI Gene ID: 1600

neXtProt AC: NX_O75553

UniProt: O75553
Chr Location

1p32.2; chr1:56997906-58250539 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 32084
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: DAB1
Gene Tree

Dab1

Diseases

1 with human DAB1 associations

				Human Disease	Mouse Models
				spinocerebellar ataxia type 37 IDs spinocerebellar ataxia type 37 DOID:0050984 OMIM:615945

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

57 phenotypes from 16 alleles in 15 genetic backgrounds
8 phenotypes from multigenic genotypes
5 images
95 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

28
Chemically induced (other)

2
Gene trapped

3
Radiation induced

1
Spontaneous

7
Targeted

15
Genomic Mutations

4 involving Dab1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

52 strains or lines available

Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration.

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All GO Annotations

53
GO References

25

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

648
Tissues

215
cDNA Data

43
Literature Summary

93

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN dab1a, dab1b

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Dab1 interacts with 414 markers (Mir1b, Mir7-1, Mir9-1, ...) View All

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All Sequences

104
RefSeq

43
UniProt

6
CCDS

CCDS18413.1
UniGene

289682

			Length	Strain/Species	Flank
genomic	OTTMUSG00000008111	VEGA Gene Model \| MGI Sequence Detail	1125486	C57BL/6J	± kb
transcript	OTTMUST00000018430	VEGA \| MGI Sequence Detail	5278	Not Applicable
polypeptide	OTTMUSP00000008462	VEGA \| MGI Sequence Detail	555	Not Applicable

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SNPs within 2kb

9389 from dbSNP Build 142

PCR

2

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UniProt

6 Sequences
Protein Ontology

PR:000006258 disabled homolog 1

(term hierarchy)
PDB

1NTV, 1NU2, 1OQN
InterPro Domains

IPR011993 PH domain-like

IPR006020 PTB/PI domain

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All nucleic 66

Genomic 6

cDNA 45

Primer pair 9

Other 6

Microarray probesets 10

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MGD-MRK-14318, MGD-MRK-14330, MGD-MRK-37598, MGI:1196335, MGI:2140405, MGI:2444714, MGI:98245

Summaries

All 219

Developmental Gene Expression 93

Gene Ontology 25

Phenotypes 95
Earliest

J:23094 Davisson MT, New chromosome aberrations. Mouse News Lett. 1988;80:166
Latest

J:242933 Whittaker DE, et al., The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. J Clin Invest. 2017 Mar 01;127(3):874-887

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/19/2017 MGI 6.10