Gene Gene information from NCBI Gene database.
Entrez ID 1739
Gene name Discs large MAGUK scaffold protein 1
Gene symbol DLG1
Synonyms (NCBI Gene)
DLGH1SAP-97SAP97hdlg
Chromosome 3
Chromosome location 3q29
Summary This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of tra
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT030999 hsa-miR-21-5p Microarray 18591254
MIRT440810 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440810 hsa-miR-218-5p HITS-CLIP 23212916
MIRT938063 hsa-miR-1178 CLIP-seq
MIRT938064 hsa-miR-1238 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
APC Unknown 21858148
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
143
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20551903
GO:0001657 Process Ureteric bud development IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001771 Process Immunological synapse formation IEA
GO:0001772 Component Immunological synapse IDA 20551903
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601014 2900 ENSG00000075711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12959
Protein name Disks large homolog 1 (Synapse-associated protein 97) (SAP-97) (SAP97) (hDlg)
Protein function Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Promotes epithelial cell layer barrier functi
PDB 1PDR , 2M3M , 2OQS , 2X7Z , 3LRA , 3RL7 , 3RL8 , 3W9Y , 4AMH , 4G69 , 7PC3 , 8CN1 , 8CN3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09058 L27_1 2 62 L27_1 Domain
PF10608 MAGUK_N_PEST 106 223 Polyubiquitination (PEST) N-terminal domain of MAGUK Domain
PF00595 PDZ 224 308 PDZ domain Domain
PF00595 PDZ 319 403 PDZ domain Domain
PF10600 PDZ_assoc 404 465 PDZ-associated domain of NMDA receptors Domain
PF00595 PDZ 466 544 PDZ domain Domain
PF00018 SH3_1 587 643 SH3 domain Domain
PF00625 Guanylate_kin 713 891 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Expressed in the brain (at protein level) (PubMed:23676497). Widely expressed, with isofor
Sequence
MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTL
LD
NPKCIDRSKPSEPIQPVNTWEISSLPSSTVTSETLPSSLSPSVEKYRYQDEDTPPQEH
ISPQITNEVIGPELVHVSEKNLSEIENVHGFVSHSHISPIKPTEAVLPSPPTVPVIPVLP
VPAENTVILPTIPQANPPPVLVNTDSLETPTYVNGTDADYEYE
EITLERGNSGLGFSIAG
GTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAG
SIVRLYVK
RRKPVSEKIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAH
KDGKLQIGDKLLAVNNVCLEEVTHEEAVTALKNTSDFVYLKVA
KPTSMYMNDGYAPPDIT
NSSSQPVDNHVSPSSFLGQTPASPARYSPVSKAVLGDDEITREPR
KVVLHRGSTGLGFNI
VGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASHEQAAAALKNAGQAVT
IVAQ
YRPEEYSRFEAKIHDLREQMMNSSISSGSGSLRTSQKRSLYVRALFDYDKTKDSGL
PSQGLNFKFGDILHVINASDDEWWQARQVTPDGESDEVGVIPS
KRRVEKKERARLKTVKF
NSKTRDKGEIPDDMGSKGLKHVTSNASDSESSYRGQEEYVLSYEPVNQQEVNYTRPVIIL
GPMKDRINDDLISEFPDKFGSCVPHTTRPKRDYEVDGRDYHFVTSREQMEKDIQEHKFIE
AGQYNNHLYGTSVQSVREVAEKGKHCILDVSGNAIKRLQIAQLYPISIFIKPKSMENIME
MNKRLTEEQARKTFERAMKLEQEFTEHFTAIVQGDTLEDIYNQVKQIIEEQ
SGSYIWVPA
KEKL
Sequence length 904
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hippo signaling pathway
Tight junction
T cell receptor signaling pathway
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis
  Trafficking of AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Activation of Ca-permeable Kainate Receptor
RAF/MAP kinase cascade
Synaptic adhesion-like molecules
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs200110103 RCV005928812
Clear cell carcinoma of kidney Benign rs143611703 RCV005903155
DLG1-related disorder Uncertain significance; Likely benign; Benign rs1157450269, rs763877437, rs759793588, rs2474326851, rs557113489, rs2149894843, rs370433327, rs151290819, rs34492126, rs35370245, rs78014638, rs571186311, rs146460812, rs575404686, rs2271822
View all (7 more)
RCV003396828
RCV003406142
RCV003402170
RCV003412469
RCV003896565
RCV003981624
RCV003902174
RCV003911926
RCV003973847
RCV003973991
RCV003913901
RCV003931486
RCV003927151
RCV003951484
RCV003926823
RCV003926871
RCV003917325
RCV003932075
RCV003932227
RCV003934347
RCV003964243
RCV003905898
Gastric cancer Uncertain significance rs200110103 RCV005928813
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 21858148
Alzheimer Disease Associate 34440432
Arthritis Rheumatoid Inhibit 22307621
Arthritis Rheumatoid Associate 28767591
Autism Spectrum Disorder Associate 27271353, 34356069
Brugada Syndrome Associate 36833354
Cakut Associate 36830709
Carcinogenesis Associate 27002939
Cardiomyopathy Dilated Associate 28750076
Chromosome 3q29 Deletion Syndrome Stimulate 15918153