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 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; chr3:196769431-197026171 (-)  GRCh37.p13

Alleles and phenotypes

All alleles(35) : Targeted(10) Gene trapped(25)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (98 annotations)

Process	actin filament organization, activation of protein kinase activity, ...
Component	basal plasma membrane, basolateral plasma membrane, ...
Function	ion channel binding, ionotropic glutamate receptor binding, ...

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

Expression

Literature Summary: (15 records)

Data Summary: Results (201)    Tissues (94)    Images (47)
Theiler Stages: 13, 15, 17, 19, 20, 22, 23, 25, 28

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   ArrayExpress

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	TC1575056, TC1587181, TC1590440, TC1599465, TC1623031, TC1630234
DoTS	DT.101258203, DT.101739534, DT.110718532, DT.110718548, DT.492563, DT.91591755, DT.94140620, DT.94326012, DT.97384214
NIA Mouse Gene Index	U043513
PDB	2G2L
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:203062 Iizuka-Kogo A, et al., Decreased apoptosis and persistence of the common nephric duct during the development of an aberrant vesicoureteral junction in dlg1 gene-targeted mice. Anat Rec (Hoboken). 2013 Dec;296(12):1936-42
All references(86)

Other accession IDs

MGD-MRK-35696, MGI:2444750