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DLG1 (discs large MAGUK scaffold protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1739
Gene nameGene Name - the full gene name approved by the HGNC.
Discs large MAGUK scaffold protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DLG1
SynonymsGene synonyms aliases
DLGH1, SAP-97, SAP97, hdlg
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
APC Unknown 21858148
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20551903
GO:0000165 Process MAPK cascade TAS
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 12421351, 20691406, 18665322
Unknown
Disease name Disease term dbSNP ID References
Hypoplasia of the maxilla Hypoplasia of the maxilla
Malnutrition Malnutrition
Oropharyngeal dysphagia Oropharyngeal Dysphagia
Otitis media Recurrent otitis media rs601338, rs1047781, rs1800028

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