ENSG00000075711


Homo sapiens

Features
Gene ID: ENSG00000075711
  
Biological name :DLG1
  
Synonyms : discs large MAGUK scaffold protein 1 / DLG1 / Q12959
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q29
Gene start: 197042560
Gene end: 197299300
  
Corresponding Affymetrix probe sets: 202514_at (Human Genome U133 Plus 2.0 Array)   202515_at (Human Genome U133 Plus 2.0 Array)   202516_s_at (Human Genome U133 Plus 2.0 Array)   215988_s_at (Human Genome U133 Plus 2.0 Array)   217208_s_at (Human Genome U133 Plus 2.0 Array)   229703_at (Human Genome U133 Plus 2.0 Array)   230229_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396658
Ensembl peptide - ENSP00000396474
Ensembl peptide - ENSP00000396768
Ensembl peptide - ENSP00000414189
Ensembl peptide - ENSP00000413238
Ensembl peptide - ENSP00000412579
Ensembl peptide - ENSP00000411278
Ensembl peptide - ENSP00000407531
Ensembl peptide - ENSP00000400169
Ensembl peptide - ENSP00000398939
Ensembl peptide - ENSP00000398702
Ensembl peptide - ENSP00000345731
Ensembl peptide - ENSP00000350303
Ensembl peptide - ENSP00000376185
Ensembl peptide - ENSP00000376186
Ensembl peptide - ENSP00000376187
Ensembl peptide - ENSP00000390403
Ensembl peptide - ENSP00000391732
Ensembl peptide - ENSP00000393771
NCBI entrez gene - 1739     See in Manteia.
OMIM - 601014
RefSeq - XM_017005824
RefSeq - XM_017005806
RefSeq - XM_017005807
RefSeq - XM_017005808
RefSeq - XM_017005809
RefSeq - XM_017005810
RefSeq - XM_017005811
RefSeq - XM_017005812
RefSeq - XM_017005813
RefSeq - XM_017005814
RefSeq - XM_017005815
RefSeq - XM_017005816
RefSeq - XM_017005817
RefSeq - XM_017005818
RefSeq - XM_017005819
RefSeq - XM_017005820
RefSeq - XM_017005821
RefSeq - XM_017005822
RefSeq - XM_017005823
RefSeq - NM_001098424
RefSeq - NM_001204386
RefSeq - NM_001204387
RefSeq - NM_001204388
RefSeq - NM_001290983
RefSeq - NM_004087
RefSeq - XM_005269289
RefSeq - XM_011512502
RefSeq - XM_011512503
RefSeq - XM_011512505
RefSeq - XM_011512506
RefSeq - XM_011512509
RefSeq - XM_017005800
RefSeq - XM_017005801
RefSeq - XM_017005802
RefSeq - XM_017005803
RefSeq - XM_017005804
RefSeq - XM_017005805
RefSeq Peptide - NP_001277912
RefSeq Peptide - NP_004078
RefSeq Peptide - NP_001191316
RefSeq Peptide - NP_001191317
RefSeq Peptide - NP_001091894
RefSeq Peptide - NP_001191315
swissprot - B4E2H8
swissprot - A8MUT6
swissprot - F2Z2L0
swissprot - E7EQD7
swissprot - Q12959
swissprot - A0A0C4DFT3
swissprot - H7C166
swissprot - C9JUA9
swissprot - C9JN61
swissprot - C9JCP6
swissprot - C9J110
swissprot - C9IYP1
Ensembl - ENSG00000075711
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dlg1ENSDARG00000009677Danio rerio
 dlg1lENSDARG00000102216Danio rerio
 DLG1ENSGALG00000006908Gallus gallus
 Dlg1ENSMUSG00000022770Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DLG2 / Q15700 / discs large MAGUK scaffold protein 2ENSG0000015067269
DLG4 / P78352 / discs large MAGUK scaffold protein 4ENSG0000013253560
DLG3 / Q92796 / discs large MAGUK scaffold protein 3ENSG0000008245859
DLG5 / Q8TDM6 / discs large MAGUK scaffold protein 5ENSG0000015120822
MPP5 / Q8N3R9 / membrane palmitoylated protein 5ENSG0000007241518
AL358113.1ENSG0000028513018
TJP1 / Q07157 / tight junction protein 1ENSG0000010406718
TJP3 / O95049 / tight junction protein 3ENSG0000010528918
TJP2 / Q9UDY2 / tight junction protein 2ENSG0000011913917
MPP7 / Q5T2T1 / membrane palmitoylated protein 7ENSG0000015005417
MPP4 / Q96JB8 / membrane palmitoylated protein 4ENSG0000008212617
CASK / O14936 / calcium/calmodulin dependent serine protein kinaseENSG0000014704416
MPP2 / Q14168 / membrane palmitoylated protein 2ENSG0000010885216
MPP3 / Q13368 / membrane palmitoylated protein 3ENSG0000016164716
MPP6 / Q9NZW5 / membrane palmitoylated protein 6ENSG0000010592615
MPP1 / Q00013 / membrane palmitoylated protein 1ENSG0000013083013
GUK1 / Q16774 / guanylate kinase 1ENSG000001437747


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR004172  L27 domain
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR015143  L27-1
 IPR016313  Disks large 1-like
 IPR019583  PDZ-associated domain of NMDA receptors
 IPR019590  Disks large homologue 1, N-terminal PEST domain
 IPR020590  Guanylate kinase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily
 IPR036892  L27 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0001771 immunological synapse formation IEA
 biological_processGO:0001935 endothelial cell proliferation IDA
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0002369 T cell cytokine production IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0007015 actin filament organization IDA
 biological_processGO:0007093 mitotic cell cycle checkpoint NAS
 biological_processGO:0007163 establishment or maintenance of cell polarity TAS
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0007399 nervous system development IBA
 biological_processGO:0008104 protein localization IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030432 peristalsis IEA
 biological_processGO:0030838 positive regulation of actin filament polymerization IEA
 biological_processGO:0030866 cortical actin cytoskeleton organization IDA
 biological_processGO:0030953 astral microtubule organization IMP
 biological_processGO:0031579 membrane raft organization IEA
 biological_processGO:0031641 regulation of myelination IEA
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034629 cellular protein-containing complex localization IMP
 biological_processGO:0042110 T cell activation IEA
 biological_processGO:0042130 negative regulation of T cell proliferation IEA
 biological_processGO:0042391 regulation of membrane potential IDA
 biological_processGO:0042982 amyloid precursor protein metabolic process IEA
 biological_processGO:0043113 receptor clustering IBA
 biological_processGO:0043268 positive regulation of potassium ion transport IDA
 biological_processGO:0043622 cortical microtubule organization IMP
 biological_processGO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA
 biological_processGO:0045930 negative regulation of mitotic cell cycle IMP
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0046710 GDP metabolic process IEA
 biological_processGO:0048608 reproductive structure development IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0048729 tissue morphogenesis IEA
 biological_processGO:0048745 smooth muscle tissue development IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0051660 establishment of centrosome localization IMP
 biological_processGO:0051898 negative regulation of protein kinase B signaling IEA
 biological_processGO:0060022 hard palate development IEA
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0070830 bicellular tight junction assembly IDA
 biological_processGO:0072659 protein localization to plasma membrane TAS
 biological_processGO:0097120 receptor localization to synapse IBA
 biological_processGO:0098609 cell-cell adhesion IDA
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential ISS
 biological_processGO:1902305 regulation of sodium ion transmembrane transport TAS
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane IDA
 biological_processGO:1903286 regulation of potassium ion import ISS
 biological_processGO:1903753 negative regulation of p38MAPK cascade IMP
 biological_processGO:1903760 regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ISS
 biological_processGO:1903764 regulation of potassium ion export across plasma membrane ISS
 cellular_componentGO:0001772 immunological synapse TAS
 cellular_componentGO:0005605 basal lamina IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005874 microtubule IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005923 bicellular tight junction IDA
 cellular_componentGO:0008328 ionotropic glutamate receptor complex IBA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0014069 postsynaptic density IBA
 cellular_componentGO:0014704 intercalated disc TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031253 cell projection membrane IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0033268 node of Ranvier IEA
 cellular_componentGO:0035748 myelin sheath abaxonal region IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043219 lateral loop IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IBA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097025 MPP7-DLG1-LIN7 complex IDA
 molecular_functionGO:0004385 guanylate kinase activity TAS
 molecular_functionGO:0004721 phosphoprotein phosphatase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding TAS
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0015459 potassium channel regulator activity ISS
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019902 phosphatase binding IPI
 molecular_functionGO:0031434 mitogen-activated protein kinase kinase binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0035255 ionotropic glutamate receptor binding IBA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0097016 L27 domain binding IPI


Pathways (from Reactome)
Pathway description
Trafficking of AMPA receptors
NrCAM interactions
Activation of Ca-permeable Kainate Receptor
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / complex / reaction
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / reaction / complex
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000173621 LRFN4 / Q6PJG9 / leucine rich repeat and fibronectin type III domain containing 4  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / complex / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / complex / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction / complex
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000091129 NRCAM / Q92823 / neuronal cell adhesion molecule  / reaction / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / reaction / complex
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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