Dlg1
Gene Detail

Symbol

Name
ID

Dlg1
discs, large homolog 1 (Drosophila)
MGI:107231

Synonyms

B130052P05Rik, Dlgh1, SAP97

Feature Type

protein coding gene

Genetic Map

Chromosome 16
22.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr16:31663443-31873350 bp, + strand From VEGA annotation of GRCm38   209908 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

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

Protein SuperFamily: membrane-associated guanylate kinase (MAGUK) scaffold protein
Gene Tree: Dlg1

Human
homologs

Human Homolog		DLG1, discs, large homolog 1 (Drosophila)
NCBI Gene ID		1739
neXtProt AC		NX_Q12959
Human Synonyms		dJ1061C18.1.1, DLGH1, hdlg, SAP97, SAP-97
Human Chr (Location)		3q29; chr3:197042560-197298631 (-)  GRCh38

Mutations,
alleles, and
phenotypes

All mutations/alleles(36) : Gene trapped(25) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 

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.

 
Phenotype Images(4)

Interactions

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

View All

Gene Ontology
(GO)
classifications

All GO classifications: (114 annotations)

Process	actin filament organization, activation of protein kinase activity, ...
Component	basal lamina, basal plasma membrane, ...
Function	guanylate kinase activity, ion channel binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (18 records)

Data Summary: Results (201)    Tissues (94)    Images (47)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	11
RNA in situ	111
In situ reporter (knock in)	71
Northern blot	6
Western blot	2

cDNA source data(155)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(157) cDNA(157)
Microarray probesets(4)

Other database
links

VEGA Gene Model	OTTMUSG00000016269 (Evidence)
Ensembl Gene Model	ENSMUSG00000022770 (Evidence)
Entrez Gene	13383 (Evidence)
UniGene	382
DFCI	TC1623031, TC1590440, TC1587181, TC1575056, TC1599465, TC1630234
DoTS	DT.97384214, DT.94326012, DT.94140620, DT.101258203, DT.91591755, DT.101739534, DT.492563, DT.110718548, DT.110718532
NIA Mouse Gene Index	U043513
PDB	4OAJ
Consensus CDS Project	CCDS28107.1, CCDS57025.1, CCDS57026.1, CCDS57027.1
International Mouse Knockout Project Status	Dlg1

Sequences

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

All sequences(135) RefSeq(40) UniProt(11)

Polymorphisms

RFLP(2) : SNPs within 2kb(903 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR008144	Guanylate kinase
InterPro	IPR020590	Guanylate kinase, conserved site
InterPro	IPR008145	Guanylate kinase/L-type calcium channel
InterPro	IPR004172	L27
InterPro	IPR015143	L27-1
InterPro	IPR019590	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal
InterPro	IPR016313	Membrane-associated guanylate kinase (MAGUK) scaffold protein
InterPro	IPR019583	PDZ-associated domain of NMDA receptors
InterPro	IPR001478	PDZ domain
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
InterPro	IPR001452	Src homology-3 domain
Protein Ontology	PR:000006511	disks large homolog 1

References

(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:216250 Lee S, et al., Loss of Dlg-1 in the mouse lens impairs fibroblast growth factor receptor signaling. PLoS One. 2014;9(5):e97470
All references(93)

Other
accession IDs

MGD-MRK-35696, MGI:2444750