Dlg1 MGI Mouse Gene Detail - MGI:107231 - discs, large homolog 1 (Drosophila)

Dlg1 Gene Detail

Symbol

Dlg1
Name

discs, large homolog 1 (Drosophila)
Synonyms

B130052P05Rik, Dlgh1, SAP97

Feature Type

protein coding gene
IDs

MGI:107231
NCBI Gene: 13383
Gene Overview

MyGene.info: DLG1

Sequence Map

Chr16:31663443-31873350 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

209908 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 22.40 cM
Mapping Data

5 experiments

Human Ortholog

DLG1, discs large MAGUK scaffold protein 1

Vertebrate Orthologs

10

Human Ortholog

DLG1, discs large MAGUK scaffold protein 1
Orthology source: HomoloGene, HGNC
Synonyms

dJ1061C18.1.1, DLGH1, hdlg, SAP97, SAP-97
Links

HGNC:2900

NCBI Gene ID: 1739

neXtProt AC: NX_Q12959
Chr Location

3q29; chr3:197042560-197299272 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 20869
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: DLG1
Protein SuperFamily

membrane-associated guanylate kinase (MAGUK) scaffold protein
Gene Tree

Dlg1

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Phenotype Summary

78 phenotypes from 8 alleles in 9 genetic backgrounds
4 images
31 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

36
Gene trapped

25
Targeted

11
Incidental Mutations

Mutagenetix , APF , CvDC

Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate.

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All GO Annotations

128
GO References

30

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

201
Tissues

94
cDNA Data

155
Literature Summary

18

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

GEISHA DLG1

Xenbase dlg1

ZFIN dlg1, dlg1l

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Dlg1 interacts with 253 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

136
RefSeq

57
UniProt

11
CCDS

CCDS28107.1, CCDS57025.1, CCDS57026.1, CCDS57027.1
UniGene

382

			Length	Strain/Species	Flank
genomic	OTTMUSG00000016269	VEGA Gene Model \| MGI Sequence Detail	209908	C57BL/6J	± kb
transcript	OTTMUST00000039019	VEGA \| MGI Sequence Detail	4663	Not Applicable
polypeptide	OTTMUSP00000017432	VEGA \| MGI Sequence Detail	927	Not Applicable

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SNPs within 2kb

892 from dbSNP Build 142

RFLP

2

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UniProt

11 Sequences
Protein Ontology

PR:000006511 disks large homolog 1
PDB

4OAJ
InterPro Domains

IPR016313 Disks large 1

IPR019590 Disks large homologue 1, N-terminal PEST domain

IPR020590 Guanylate kinase, conserved site

IPR008144 Guanylate kinase-like domain

IPR008145 Guanylate kinase/L-type calcium channel beta subunit

IPR015143 L27-1

IPR004172 L27 domain

IPR019583 PDZ-associated domain of NMDA receptors

IPR001478 PDZ domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR001452 SH3 domain

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All nucleic 157

cDNA 157

Microarray probesets 4

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MGD-MRK-35696, MGI:2444750

Summaries

All 94

Developmental Gene Expression 18

Gene Ontology 30

Phenotypes 31
Earliest

J:34777 Burgess DL, et al., Dlgh1, a mouse homolog of the drosophila discs-large gene, is located on chromosome 16. Mamm Genome. 1996 Aug;7(8):623-4
Latest

J:232397 Noseda R, et al., Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold. PLoS Biol. 2016 Apr;14(4):e1002440

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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