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
Gene Overview

MyGene.info: DLG1
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr16:31663443-31873356 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 22.40 cM
Mapping Data

5 experiments

SNPs within 2kb

892 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	Chr16:31663443-31875129 (+)
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

10

Human Ortholog

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

DLGH1, hdlg, SAP97, SAP-97
Links

HGNC:2900

NCBI Gene ID: 1739

neXtProt AC: NX_Q12959

UniProt: Q12959
Chr Location

3q29; chr3:197042560-197299272 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 20869
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: 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
41 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Endonuclease-mediated

1
Gene trapped

25
Targeted

12
Genomic Mutations

1 involving Dlg1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

2 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

156
GO References

34

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

909
Tissues

132
cDNA Data

157
Literature Summary

25

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

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All Sequences

143
RefSeq

69
UniProt

11
CCDS

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

382

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	C57BL/6
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

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

IPR019583 PDZ-associated domain of NMDA receptors

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 162

cDNA 159

Primer pair 1

Other 2

Microarray probesets 4

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MGD-MRK-35696, MGI:2444750

Summaries

All 119

Developmental Gene Expression 25

Gene Ontology 34

Phenotypes 41
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:299521 Musa H, et al., Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk. Am J Physiol Heart Circ Physiol. 2020 Jun 1;318(6):H1357-H1370

TSS for Dlg1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137907	Chr16:31663841-31663912 (+)	434 bp
Tssr137908	Chr16:31663937-31663980 (+)	516 bp
Tssr137909	Chr16:31664110-31664118 (+)	671 bp
Tssr137910	Chr16:31664130-31664178 (+)	711 bp
Tssr137911	Chr16:31664185-31664188 (+)	744 bp
Tssr137918	Chr16:31754559-31754581 (+)	91,127 bp
Tssr137919	Chr16:31754582-31754595 (+)	91,146 bp
Tssr137920	Chr16:31754698-31754742 (+)	91,277 bp
Tssr137921	Chr16:31754769-31754784 (+)	91,334 bp
Tssr137922	Chr16:31754799-31754822 (+)	91,368 bp
Tssr137923	Chr16:31754823-31754832 (+)	91,385 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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 02/23/2021 MGI 6.16