Dab1 MGI Mouse Gene Detail - MGI:108554

Symbol

Dab1
Name

disabled 1
Synonyms

C630028C02Rik

Feature Type

protein coding gene
IDs

MGI:108554
NCBI Gene: 13131
Alliance

gene page
Transcription Start Sites

24 TSS

Sequence Map

Chr4:103476556-104602041 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 47.79 cM
Mapping Data

15 experiments

SNPs within 2kb

56516 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_108554	protein coding gene	Chr4:103476425-104602041 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028509	protein coding gene	Chr4:104077789-105264699 (+)
A/J	MGP_AJ_G0028472	protein coding gene	Chr4:100418504-101549098 (+)
AKR/J	MGP_AKRJ_G0028419	protein coding gene	Chr4:102862760-104009929 (+)
BALB/cJ	MGP_BALBcJ_G0028491	protein coding gene	Chr4:100617149-101744979 (+)
C3H/HeJ	MGP_C3HHeJ_G0028205	protein coding gene	Chr4:103621903-104780833 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028931	protein coding gene	Chr4:107964105-109141339 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026222	protein coding gene	Chr4:95750004-96858750 (+)
CAST/EiJ	MGP_CASTEiJ_G0027641	protein coding gene	Chr4:101387182-102550640 (+)
CBA/J	MGP_CBAJ_G0028174	protein coding gene	Chr4:111411672-112637814 (+)
DBA/2J	MGP_DBA2J_G0028322	protein coding gene	Chr4:100068451-101197396 (+)
FVB/NJ	MGP_FVBNJ_G0028289	protein coding gene	Chr4:98914471-100040718 (+)
LP/J	MGP_LPJ_G0028423	protein coding gene	Chr4:104307484-105466515 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028316	protein coding gene	Chr4:116826562-118011353 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028966	protein coding gene	Chr4:103078593-104250716 (+)
PWK/PhJ	MGP_PWKPhJ_G0027367	protein coding gene	Chr4:98264551-99403475 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027191	protein coding gene	Chr4:100471422-101633562 (+)
WSB/EiJ	MGP_WSBEiJ_G0027721	protein coding gene	Chr4:103249420-104417113 (+)

Human Ortholog

DAB1, DAB adaptor protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DAB1, DAB adaptor protein 1
Synonyms

SCA37
Links

HGNC:2661

NCBI Gene ID: 1600

UniProt: O75553
Chr Location

1p32.2-p32.1; chr1:56994778-58546734 (-) GRCh38

MGI Vertebrate Homology

Dab1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate 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

58 phenotypes from 15 alleles in 15 genetic backgrounds
9 phenotypes from multigenic genotypes
5 images
124 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

31
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

3
Radiation induced

1
Spontaneous

7
Targeted

15
Genomic Mutations

4 involving Dab1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

77 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

78
GO References

32

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

1591
Tissues

271
cDNA Data

48
Literature Summary

116

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA DAB1

Xenbase dab1

ZFIN dab1a, dab1b

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All Sequences

149
RefSeq

85
UniProt

6
CCDS

CCDS18413.1, CCDS89790.1

Ensembl

ENSMUSG00000028519 (Evidence)
NCBI Gene

13131

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028519	Ensembl Gene Model \| MGI Sequence Detail	1125486	C57BL/6J	± kb
transcript	ENSMUST00000106830	Ensembl \| MGI Sequence Detail	5278	Not Applicable
polypeptide	ENSMUSP00000102443	Ensembl \| MGI Sequence Detail	555	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000006258 disabled homolog 1

(term hierarchy)
PDB

1NTV, 1NU2, 1OQN
InterPro Domains

IPR048559 Disabled homolog 1/2, sulfatide-binding motif

IPR048561 Disabled, phosphotyrosine-binding domain

IPR011993 PH-like domain superfamily

IPR006020 PTB/PI domain
GlyGen

P97318 5 sites

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All nucleic 88

Genomic 6

cDNA 51

Primer pair 19

Other 12

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 278

Developmental Gene Expression 116

Gene Ontology 32

Phenotypes 124
Earliest

J:37166 Sweet HO, et al., Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration. Mamm Genome. 1996 Nov;7(11):798-802
Latest

J:354690 Skelin L, et al., Connexin Expression Is Altered in the Eye Development of Yotari Mice: A Preliminary Study. Biomolecules. 2024 Sep 19;14(9)

TSS for Dab1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38112	Chr4:103476422-103476441 (+)	-124 bp
Tssr38113	Chr4:103476684-103476717 (+)	145 bp
Tssr38114	Chr4:103476718-103476750 (+)	178 bp
Tssr38115	Chr4:103476777-103476789 (+)	227 bp
Tssr38116	Chr4:103534003-103534008 (+)	57,450 bp
Tssr38117	Chr4:103542957-103542962 (+)	66,404 bp
Tssr38118	Chr4:103662059-103662061 (+)	185,504 bp
Tssr38119	Chr4:103708629-103708645 (+)	232,081 bp
Tssr38120	Chr4:103836060-103836062 (+)	359,505 bp
Tssr38121	Chr4:104032351-104032385 (+)	555,812 bp
Tssr38122	Chr4:104090156-104090163 (+)	613,604 bp
Tssr38123	Chr4:104201272-104201308 (+)	724,734 bp
Tssr38124	Chr4:104224527-104224557 (+)	747,986 bp
Tssr38125	Chr4:104224746-104224789 (+)	748,212 bp
Tssr38126	Chr4:104224790-104224821 (+)	748,250 bp
Tssr38127	Chr4:104224825-104224830 (+)	748,272 bp
Tssr38128	Chr4:104224836-104224839 (+)	748,282 bp
Tssr38129	Chr4:104247076-104247079 (+)	770,522 bp
Tssr38130	Chr4:104321171-104321174 (+)	844,617 bp
Tssr38131	Chr4:104321180-104321210 (+)	844,639 bp
Tssr38132	Chr4:104321218-104321228 (+)	844,667 bp
Tssr38133	Chr4:104343734-104343736 (+)	867,179 bp
Tssr38134	Chr4:104598815-104598833 (+)	1,122,268 bp
Tssr38135	Chr4:104598899-104598910 (+)	1,122,349 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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