Dlg1 MGI Mouse Gene Detail - MGI:107231 - discs large MAGUK scaffold protein 1

Symbol

Dlg1
Name

discs large MAGUK scaffold protein 1
Synonyms

B130052P05Rik, Dlgh1, SAP97

Feature Type

protein coding gene
IDs

MGI:107231
NCBI Gene: 13383
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr16:31482261-31692174 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 22.40 cM
Mapping Data

5 experiments

SNPs within 2kb

4253 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107231	protein coding gene	Chr16:31482261-31693947 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022721	protein coding gene	Chr16:29654533-29868928 (+)
A/J	MGP_AJ_G0022686	protein coding gene	Chr16:28293758-28501832 (+)
AKR/J	MGP_AKRJ_G0022659	protein coding gene	Chr16:29332459-29537749 (+)
BALB/cJ	MGP_BALBcJ_G0022688	protein coding gene	Chr16:28445400-28653807 (+)
C3H/HeJ	MGP_C3HHeJ_G0022453	protein coding gene	Chr16:29452112-29661558 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023137	protein coding gene	Chr16:30295079-30518563 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020655	protein coding gene	Chr16:28668243-28869828 (+)
CAST/EiJ	MGP_CASTEiJ_G0021981	protein coding gene	Chr16:29561529-29777705 (+)
CBA/J	MGP_CBAJ_G0022423	protein coding gene	Chr16:31547171-31773562 (+)
DBA/2J	MGP_DBA2J_G0022556	protein coding gene	Chr16:28144450-28348764 (+)
FVB/NJ	MGP_FVBNJ_G0022531	protein coding gene	Chr16:28117894-28331802 (+)
LP/J	MGP_LPJ_G0022623	protein coding gene	Chr16:29449858-29665148 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022550	protein coding gene	Chr16:31024376-31241454 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023149	protein coding gene	Chr16:29299161-29509119 (+)
PWK/PhJ	MGP_PWKPhJ_G0021720	protein coding gene	Chr16:28450060-28660255 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021551	protein coding gene	Chr16:29068839-29293187 (+)
WSB/EiJ	MGP_WSBEiJ_G0022025	protein coding gene	Chr16:29233995-29452939 (+)

Human Ortholog

DLG1, discs large MAGUK scaffold protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DLG1, discs large MAGUK scaffold protein 1
Synonyms

DLGH1, hdlg, SAP-97, SAP97
Links

HGNC:2900

NCBI Gene ID: 1739

neXtProt AC: NX_Q12959

UniProt: Q12959
Chr Location

3q29; chr3:197042560-197299330 (-) GRCh38

MGI Vertebrate Homology

Dlg1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: DLG1
Protein SuperFamily

MAGUK_DLGH
Gene Tree

Dlg1

Diseases

1 with human DLG1 associations

				Human Disease	Mouse Models
				invasive ductal carcinoma IDs invasive ductal carcinoma DOID:3008 DOID:3005 MESH:D018270 NCI:C4017 NCI:C4194 UMLS_CUI:C1134719 UMLS_CUI:C1527349

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

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Phenotype Summary

78 phenotypes from 8 alleles in 9 genetic backgrounds
4 images
50 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
Endonuclease-mediated

3
Gene trapped

21
Targeted

12
Genomic Mutations

1 involving Dlg1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

76 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

199
GO References

40

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

989
Tissues

135
cDNA Data

157
Literature Summary

29

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA DLG1

Xenbase dlg1

ZFIN dlg1a, dlg1b

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All Sequences

143
RefSeq

69
UniProt

11
CCDS

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

Ensembl

ENSMUSG00000022770 (Evidence)
NCBI Gene

13383

			Length	Strain/Species	Flank
genomic	13383	NCBI Gene Model \| MGI Sequence Detail	209914	C57BL/6J	± kb
transcript	NM_007862	RefSeq \| MGI Sequence Detail	4777	ZRU/MplStud
polypeptide	Q811D0	UniProt \| EBI \| MGI Sequence Detail	905	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000006511 disks large homolog 1

(term hierarchy)
PDB

4OAJ
InterPro Domains

IPR016313 Disks large 1-like

IPR019583 Disks large homolog 1-4, PDZ-associated domain

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

IPR036892 L27 domain superfamily

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR050614 Synaptic Scaffolding LAP/MAGUK Families
GlyGen

Q811D0 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 163

cDNA 159

Primer pair 2

Other 2

Microarray probesets 4

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MGD-MRK-35696, MGI:2444750

Summaries

All 139

Developmental Gene Expression 29

Gene Ontology 40

Phenotypes 50
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:345209 Li X, et al., Dlg1 deletion in microglia ameliorates chronic restraint stress induced mice depression-like behavior. Front Pharmacol. 2023;14:1124845

TSS for Dlg1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137907	Chr16:31482659-31482730 (+)	434 bp
Tssr137908	Chr16:31482755-31482798 (+)	516 bp
Tssr137909	Chr16:31482928-31482936 (+)	671 bp
Tssr137910	Chr16:31482948-31482996 (+)	711 bp
Tssr137911	Chr16:31483003-31483006 (+)	744 bp
Tssr137912	Chr16:31514322-31514342 (+)	32,071 bp
Tssr137913	Chr16:31514357-31514373 (+)	32,104 bp
Tssr137914	Chr16:31514701-31514740 (+)	32,460 bp
Tssr137915	Chr16:31532263-31532280 (+)	50,011 bp
Tssr137916	Chr16:31534914-31534917 (+)	52,655 bp
Tssr4842	Chr16:31559274-31559291 (+)	77,022 bp
Tssr4843	Chr16:31563217-31563221 (+)	80,958 bp
Tssr137917	Chr16:31567973-31567979 (+)	85,715 bp
Tssr137918	Chr16:31573377-31573399 (+)	91,127 bp
Tssr137919	Chr16:31573400-31573413 (+)	91,146 bp
Tssr137920	Chr16:31573516-31573560 (+)	91,277 bp
Tssr137921	Chr16:31573587-31573602 (+)	91,334 bp
Tssr137922	Chr16:31573617-31573640 (+)	91,368 bp
Tssr137923	Chr16:31573641-31573650 (+)	91,385 bp
Tssr137924	Chr16:31671152-31671155 (+)	188,893 bp
Tssr137925	Chr16:31684302-31684306 (+)	202,043 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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