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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

HCOP human homology predictions: DLG1
Protein SuperFamily: membrane-associated guanylate kinase (MAGUK) scaffold protein
Gene Tree: Dlg1

Human
homologs
DLG1, discs, large homolog 1 (Drosophila)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1739
neXtProt AC: NX_Q12959

Human Synonyms: dJ1061C18.1.1, DLGH1, hdlg, SAP97, SAP-97

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

Mutations,
alleles, and
phenotypes
All mutations/alleles(36) : Gene trapped(25) Targeted(11)
Incidental mutations (data from 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.
 
Phenotype Images(4)
Interactions
Dlg1 interacts with 253 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (128 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 TypeResults
Immunohistochemistry 11
RNA in situ 111
In situ reporter (knock in) 71
Northern blot 6
Western blot 2
cDNA source data(155)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA DLG1 ; Xenbase dlg1 ; ZFIN dlg1, dlg1l    NEW 
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 4OAJ
Consensus CDS Project CCDS28107.1, CCDS57025.1, CCDS57026.1, CCDS57027.1
International Mouse Phenotyping Consortium Status Dlg1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
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 

For the selected sequences
All sequences(135) RefSeq(40) UniProt(11)
Polymorphisms
RFLP(2) : SNPs within 2kb(903 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory