UniProtKB - Q12959 (DLG1_HUMAN)
Disks large homolog 1
DLG1
Functioni
Essential multidomain scaffolding protein required for normal development (By similarity).
Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497).
By similarity7 PublicationsGO - Molecular functioni
- cadherin binding Source: BHF-UCL
- cytoskeletal protein binding Source: ProtInc
- guanylate kinase activity Source: ProtInc
- L27 domain binding Source: BHF-UCL
- mitogen-activated protein kinase kinase binding Source: UniProtKB
- molecular adaptor activity Source: Ensembl
- phosphatase binding Source: UniProtKB
- phosphoprotein phosphatase activity Source: UniProtKB
- potassium channel regulator activity Source: BHF-UCL
- protein C-terminus binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
- structural constituent of postsynaptic density Source: Ensembl
- transmembrane transporter binding Source: BHF-UCL
GO - Biological processi
- actin filament organization Source: UniProtKB
- activation of protein kinase activity Source: Ensembl
- amyloid precursor protein metabolic process Source: Ensembl
- astral microtubule organization Source: UniProtKB
- bicellular tight junction assembly Source: BHF-UCL
- branching involved in ureteric bud morphogenesis Source: Ensembl
- cell-cell adhesion Source: UniProtKB
- chemical synaptic transmission Source: GO_Central
- cortical actin cytoskeleton organization Source: UniProtKB
- cortical microtubule organization Source: UniProtKB
- embryonic skeletal system morphogenesis Source: Ensembl
- endothelial cell proliferation Source: UniProtKB
- establishment of centrosome localization Source: UniProtKB
- establishment or maintenance of cell polarity Source: UniProtKB
- establishment or maintenance of epithelial cell apical/basal polarity Source: GO_Central
- hard palate development Source: Ensembl
- immunological synapse formation Source: Ensembl
- lens development in camera-type eye Source: Ensembl
- membrane raft organization Source: Ensembl
- negative regulation of epithelial cell proliferation Source: Ensembl
- negative regulation of ERK1 and ERK2 cascade Source: UniProtKB
- negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
- negative regulation of p38MAPK cascade Source: UniProtKB
- negative regulation of protein kinase B signaling Source: Ensembl
- negative regulation of T cell proliferation Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- neurotransmitter receptor localization to postsynaptic specialization membrane Source: GO_Central
- peristalsis Source: Ensembl
- positive regulation of actin filament polymerization Source: Ensembl
- positive regulation of cell population proliferation Source: Ensembl
- positive regulation of potassium ion transport Source: BHF-UCL
- positive regulation of protein localization to plasma membrane Source: BHF-UCL
- protein-containing complex localization Source: UniProtKB
- protein localization to plasma membrane Source: BHF-UCL
- receptor clustering Source: GO_Central
- receptor localization to synapse Source: GO_Central
- regulation of cell shape Source: UniProtKB
- regulation of membrane potential Source: BHF-UCL
- regulation of myelination Source: Ensembl
- regulation of potassium ion export across plasma membrane Source: BHF-UCL
- regulation of potassium ion import Source: BHF-UCL
- regulation of protein localization to synapse Source: UniProtKB
- regulation of sodium ion transmembrane transport Source: BHF-UCL
- regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
- regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL
- reproductive structure development Source: Ensembl
- smooth muscle tissue development Source: Ensembl
- T cell activation Source: Ensembl
Keywordsi
Biological process | Host-virus interaction |
Enzyme and pathway databases
BRENDAi | 2.7.4.8, 2681 |
PathwayCommonsi | Q12959 |
Reactomei | R-HSA-399719, Trafficking of AMPA receptors R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-447038, NrCAM interactions R-HSA-451308, Activation of Ca-permeable Kainate Receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-8849932, Synaptic adhesion-like molecules R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
SignaLinki | Q12959 |
SIGNORi | Q12959 |
Protein family/group databases
TCDBi | 8.A.24.1.7, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family |
Names & Taxonomyi
Protein namesi | Recommended name: Disks large homolog 1CuratedAlternative name(s): Synapse-associated protein 97 Short name: SAP-97 Short name: SAP97 hDlg |
Gene namesi | Name:DLG1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2900, DLG1 |
MIMi | 601014, gene |
neXtProti | NX_Q12959 |
VEuPathDBi | HostDB:ENSG00000075711 |
Subcellular locationi
Plasma membrane
- Basolateral cell membrane 1 Publication
- sarcolemma 1 Publication
- Apical cell membrane 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity
Other locations
- Membrane 3 Publications; Peripheral membrane protein 1 Publication
- postsynaptic density By similarity
- synapse By similarity
- Cell junction 3 Publications
Note: Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells (PubMed:12807908). May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity).By similarity4 Publications
Cytoskeleton
- microtubule Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Nucleus
- nucleus Source: BHF-UCL
Plasma Membrane
- apical plasma membrane Source: UniProtKB-SubCell
- basolateral plasma membrane Source: UniProtKB
- cell projection membrane Source: Ensembl
- cytoplasmic side of plasma membrane Source: UniProtKB
- immunological synapse Source: UniProtKB
- lateral plasma membrane Source: Ensembl
- MPP7-DLG1-LIN7 complex Source: BHF-UCL
- plasma membrane Source: Reactome
- postsynaptic density membrane Source: GO_Central
- sarcolemma Source: UniProtKB-SubCell
- synaptic membrane Source: UniProtKB
Other locations
- basement membrane Source: Ensembl
- bicellular tight junction Source: BHF-UCL
- cell junction Source: UniProtKB
- cell-cell junction Source: UniProtKB
- cytoplasm Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- intercalated disc Source: BHF-UCL
- lateral loop Source: Ensembl
- membrane raft Source: Ensembl
- myelin sheath abaxonal region Source: Ensembl
- neuromuscular junction Source: GO_Central
- neuron projection Source: GO_Central
- node of Ranvier Source: Ensembl
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, SynapsePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 38 – 40 | INI → ANA: Loss of membrane association and DLG2-binding. 1 Publication | 3 |
Organism-specific databases
DisGeNETi | 1739 |
MalaCardsi | DLG1 |
OpenTargetsi | ENSG00000075711 |
Orphaneti | 199306, Cleft lip/palate |
PharmGKBi | PA27356 |
Miscellaneous databases
Pharosi | Q12959, Tbio |
Genetic variation databases
BioMutai | DLG1 |
DMDMi | 223590196 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000094548 | 1 – 904 | Disks large homolog 1Add BLAST | 904 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 115 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 122 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 138 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 158 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 232 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 399 | PhosphotyrosineBy similarity | 1 | ||
Modified residuei | 568 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 573 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 575 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 579 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 598 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 619 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 684 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 687 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 834 | PhosphoserineBy similarity | 1 | ||
Isoform 4 (identifier: Q12959-4) | |||||
Modified residuei | 676 | PhosphoserineCombined sources | 1 | ||
Isoform 2 (identifier: Q12959-2) | |||||
Modified residuei | 709 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q12959 |
jPOSTi | Q12959 |
MassIVEi | Q12959 |
MaxQBi | Q12959 |
PaxDbi | Q12959 |
PeptideAtlasi | Q12959 |
PRIDEi | Q12959 |
ProteomicsDBi | 18869 20226 59049 [Q12959-1] 59050 [Q12959-2] 59051 [Q12959-3] 59052 [Q12959-4] 59053 [Q12959-5] 59054 [Q12959-6] 59055 [Q12959-7] |
PTM databases
GlyConnecti | 1182, 1 N-Linked glycan (1 site) |
GlyGeni | Q12959, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | Q12959 |
PhosphoSitePlusi | Q12959 |
SwissPalmi | Q12959 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000075711, Expressed in corpus callosum and 243 other tissues |
ExpressionAtlasi | Q12959, baseline and differential |
Genevisiblei | Q12959, HS |
Organism-specific databases
HPAi | ENSG00000075711, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer (Probable).
Interacts (via guanylate kinase-like domain) with DLGAP1, DLGAP2, DLGAP3, DLGAP4 and MAP1A (By similarity).
Interacts (via guanylate kinase-like domain) with KIF13B (PubMed:10859302). May interact with HTR2A (By similarity).
Interacts (via PDZ domains) with GRIA1 (By similarity).
Interacts (via PDZ domains) with GRIN2A (By similarity).
Interacts (via PDZ domains) with KCND2 and KCND3 (PubMed:19213956).
Interacts (via PDZ domains) with KCNA1, KCNA2, KCNA3 and KCNA4 (PubMed:7477295).
Interacts (via PDZ domains) with ADGRA3 (PubMed:15021905).
Interacts with KCNF1 (PubMed:12445884).
Interacts with CAMK2 (By similarity).
Interacts with cytoskeleton-associated protein EPB41 (PubMed:7937897, PubMed:8922391).
Interacts with cytoskeleton-associated protein EZR (By similarity).
Found in a complex with KCNA5 and CAV3 (By similarity).
Found in a complex with APC and CTNNB1 (PubMed:8638125, PubMed:10656683).
Interacts with CDH1 through binding to PIK3R1 (PubMed:14699157). Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12 (By similarity).
Interacts with TOPK (PubMed:10779557).
Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C) (PubMed:17237226, PubMed:17332497, PubMed:20702775). May interact with TJAP1 (PubMed:11602598).
Interacts with PTEN (By similarity).
Interacts with FRMPD4 (via C-terminus) (PubMed:19118189).
Interacts with LRFN1, LRFN2 and LRFN4 (PubMed:16630835).
Interacts with SFPQ (PubMed:20605917).
Interacts (via PDZ domains) with ADGRA2 (via PDZ-binding motif) (PubMed:15021905, PubMed:25558062).
Interacts with ADAM10; this interaction recruits ADAM10 to the cell membrane during long-term depression in hippocampal neurons (PubMed:23676497).
Interacts with DGKI (via PDZ-binding motif) (By similarity).
Interacts (via PDZ domains) with MARCHF2 (via PDZ domain); the interaction leads to DLG1 ubiqtuitination and degradation (PubMed:17980554).
By similarityCurated21 Publications(Microbial infection) Interacts with HTLV-1 protein Tax.
1 Publication(Microbial infection) Interacts with human papillomavirus 18/HPV-18 protein E6.
1 PublicationBinary interactionsi
Q12959
Isoform 2 [Q12959-2]
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- cytoskeletal protein binding Source: ProtInc
- L27 domain binding Source: BHF-UCL
- mitogen-activated protein kinase kinase binding Source: UniProtKB
- phosphatase binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
- transmembrane transporter binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108083, 144 interactors |
ComplexPortali | CPX-6168, Scribble cell polarity complex, DLG1-LLGL2-SCRIB variant CPX-6192, Scribble cell polarity complex, DLG1-LLGL1-SCRIB variant |
CORUMi | Q12959 |
DIPi | DIP-33957N |
ELMi | Q12959 |
IntActi | Q12959, 154 interactors |
MINTi | Q12959 |
STRINGi | 9606.ENSP00000345731 |
Miscellaneous databases
RNActi | Q12959, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q12959 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q12959 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 64 | L27PROSITE-ProRule annotationAdd BLAST | 61 | |
Domaini | 224 – 310 | PDZ 1PROSITE-ProRule annotationAdd BLAST | 87 | |
Domaini | 319 – 405 | PDZ 2PROSITE-ProRule annotationAdd BLAST | 87 | |
Domaini | 466 – 546 | PDZ 3PROSITE-ProRule annotationAdd BLAST | 81 | |
Domaini | 581 – 651 | SH3PROSITE-ProRule annotationAdd BLAST | 71 | |
Domaini | 714 – 889 | Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST | 176 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 162 – 212 | Interaction with SH3 domainsAdd BLAST | 51 | |
Regioni | 224 – 546 | Required for interaction with MARCHF21 PublicationAdd BLAST | 323 | |
Regioni | 662 – 693 | DisorderedSequence analysisAdd BLAST | 32 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 662 – 676 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0708, Eukaryota |
GeneTreei | ENSGT00940000159409 |
HOGENOMi | CLU_001715_4_2_1 |
InParanoidi | Q12959 |
OMAi | TQHMENH |
OrthoDBi | 807583at2759 |
PhylomeDBi | Q12959 |
TreeFami | TF323171 |
Family and domain databases
Gene3Di | 2.30.42.10, 3 hits 3.40.50.300, 1 hit |
IDEALi | IID00513 |
InterProi | View protein in InterPro IPR016313, DLG1-like IPR019590, DLG1_PEST_dom IPR008145, GK/Ca_channel_bsu IPR008144, Guanylate_kin-like_dom IPR020590, Guanylate_kinase_CS IPR015143, L27_1 IPR004172, L27_dom IPR036892, L27_dom_sf IPR027417, P-loop_NTPase IPR001478, PDZ IPR019583, PDZ_assoc IPR036034, PDZ_sf IPR036028, SH3-like_dom_sf IPR001452, SH3_domain |
Pfami | View protein in Pfam PF00625, Guanylate_kin, 1 hit PF09058, L27_1, 1 hit PF10608, MAGUK_N_PEST, 1 hit PF00595, PDZ, 3 hits PF10600, PDZ_assoc, 1 hit PF00018, SH3_1, 1 hit |
PIRSFi | PIRSF001741, MAGUK_DLGH, 1 hit |
SMARTi | View protein in SMART SM00072, GuKc, 1 hit SM00569, L27, 1 hit SM01277, MAGUK_N_PEST, 1 hit SM00228, PDZ, 3 hits SM00326, SH3, 1 hit |
SUPFAMi | SSF101288, SSF101288, 1 hit SSF50044, SSF50044, 1 hit SSF50156, SSF50156, 3 hits SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00856, GUANYLATE_KINASE_1, 1 hit PS50052, GUANYLATE_KINASE_2, 1 hit PS51022, L27, 1 hit PS50106, PDZ, 3 hits PS50002, SH3, 1 hit |
s (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 37 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPVRKQDTQR ALHLLEEYRS KLSQTEDRQL RSSIERVINI FQSNLFQALI
60 70 80 90 100
DIQEFYEVTL LDNPKCIDRS KPSEPIQPVN TWEISSLPSS TVTSETLPSS
110 120 130 140 150
LSPSVEKYRY QDEDTPPQEH ISPQITNEVI GPELVHVSEK NLSEIENVHG
160 170 180 190 200
FVSHSHISPI KPTEAVLPSP PTVPVIPVLP VPAENTVILP TIPQANPPPV
210 220 230 240 250
LVNTDSLETP TYVNGTDADY EYEEITLERG NSGLGFSIAG GTDNPHIGDD
260 270 280 290 300
SSIFITKIIT GGAAAQDGRL RVNDCILRVN EVDVRDVTHS KAVEALKEAG
310 320 330 340 350
SIVRLYVKRR KPVSEKIMEI KLIKGPKGLG FSIAGGVGNQ HIPGDNSIYV
360 370 380 390 400
TKIIEGGAAH KDGKLQIGDK LLAVNNVCLE EVTHEEAVTA LKNTSDFVYL
410 420 430 440 450
KVAKPTSMYM NDGYAPPDIT NSSSQPVDNH VSPSSFLGQT PASPARYSPV
460 470 480 490 500
SKAVLGDDEI TREPRKVVLH RGSTGLGFNI VGGEDGEGIF ISFILAGGPA
510 520 530 540 550
DLSGELRKGD RIISVNSVDL RAASHEQAAA ALKNAGQAVT IVAQYRPEEY
560 570 580 590 600
SRFEAKIHDL REQMMNSSIS SGSGSLRTSQ KRSLYVRALF DYDKTKDSGL
610 620 630 640 650
PSQGLNFKFG DILHVINASD DEWWQARQVT PDGESDEVGV IPSKRRVEKK
660 670 680 690 700
ERARLKTVKF NSKTRDKGEI PDDMGSKGLK HVTSNASDSE SSYRGQEEYV
710 720 730 740 750
LSYEPVNQQE VNYTRPVIIL GPMKDRINDD LISEFPDKFG SCVPHTTRPK
760 770 780 790 800
RDYEVDGRDY HFVTSREQME KDIQEHKFIE AGQYNNHLYG TSVQSVREVA
810 820 830 840 850
EKGKHCILDV SGNAIKRLQI AQLYPISIFI KPKSMENIME MNKRLTEEQA
860 870 880 890 900
RKTFERAMKL EQEFTEHFTA IVQGDTLEDI YNQVKQIIEE QSGSYIWVPA
KEKL
Computationally mapped potential isoform sequencesi
There are 37 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DFT3 | A0A0C4DFT3_HUMAN | Disks large homolog 1 | DLG1 | 892 | Annotation score: | ||
A0A590UJ08 | A0A590UJ08_HUMAN | Disks large homolog 1 | DLG1 | 875 | Annotation score: | ||
A0A590UJD9 | A0A590UJD9_HUMAN | Disks large homolog 1 | DLG1 | 925 | Annotation score: | ||
A0A590UJ18 | A0A590UJ18_HUMAN | Disks large homolog 1 | DLG1 | 868 | Annotation score: | ||
A0A590UJR5 | A0A590UJR5_HUMAN | Disks large homolog 1 | DLG1 | 878 | Annotation score: | ||
A0A590UJ68 | A0A590UJ68_HUMAN | Disks large homolog 1 | DLG1 | 865 | Annotation score: | ||
A0A590UKA8 | A0A590UKA8_HUMAN | Disks large homolog 1 | DLG1 | 883 | Annotation score: | ||
A0A590UK48 | A0A590UK48_HUMAN | Disks large homolog 1 | DLG1 | 821 | Annotation score: | ||
A0A590UJR4 | A0A590UJR4_HUMAN | Disks large homolog 1 | DLG1 | 819 | Annotation score: | ||
A0A590UJX2 | A0A590UJX2_HUMAN | Disks large homolog 1 | DLG1 | 833 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 237 | S → N in BAG57902 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 801 | E → G in AAA50598 (PubMed:7937897).Curated | 1 | ||
Sequence conflicti | 801 | E → G in AAA50599 (PubMed:7937897).Curated | 1 | ||
Isoform 4 (identifier: Q12959-4) | |||||
Sequence conflicti | 636 | Missing in AAI44652 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054334 | 140 | K → R. Corresponds to variant dbSNP:rs1802668Ensembl. | 1 | |
Natural variantiVAR_054335 | 278 | R → Q2 PublicationsCorresponds to variant dbSNP:rs1134986Ensembl. | 1 | |
Natural variantiVAR_054336 | 899 | P → L. Corresponds to variant dbSNP:rs34492126Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045896 | 1 – 77 | MPVRK…SEPIQ → MNYIFGNNTLLYSRGSRGGN TSSSHGSAGPKQKHWAKKGS SDELQAEPEPSRWQQIVAFF TRRHSFIDCISVATSST in isoform 8 and isoform 9. 1 PublicationAdd BLAST | 77 | |
Alternative sequenceiVSP_045897 | 78 – 193 | Missing in isoform 8 and isoform 9. 1 PublicationAdd BLAST | 116 | |
Alternative sequenceiVSP_012862 | 162 – 194 | Missing in isoform 3, isoform 4 and isoform 5. 2 PublicationsAdd BLAST | 33 | |
Alternative sequenceiVSP_012863 | 195 – 212 | Missing in isoform 5. CuratedAdd BLAST | 18 | |
Alternative sequenceiVSP_003150 | 669 – 680 | EIPDD…SKGLK → QSFNDKRKKNLFSRKFPFYK NKDQSEQETSDADQ in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 12 | |
Alternative sequenceiVSP_012864 | 681 – 693 | Missing in isoform 6. CuratedAdd BLAST | 13 | |
Alternative sequenceiVSP_012865 | 693 | Y → YLILITDEYGCSKG in isoform 7 and isoform 9. 1 Publication | 1 | |
Alternative sequenceiVSP_045898 | 694 | Missing in isoform 9. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1PDR | X-ray | 2.80 | A | 457-555 | [»] | |
2M3M | NMR | - | A | 318-406 | [»] | |
2OQS | NMR | - | A | 318-406 | [»] | |
2X7Z | X-ray | 2.00 | A | 311-407 | [»] | |
3LRA | X-ray | 2.95 | A | 2-65 | [»] | |
3RL7 | X-ray | 2.30 | A/B/C/D/E/F | 220-317 | [»] | |
3RL8 | X-ray | 2.20 | A/B/C/D/E | 315-410 | [»] | |
3W9Y | X-ray | 2.20 | A | 712-904 | [»] | |
4AMH | X-ray | 2.30 | A/B | 315-405 | [»] | |
4G69 | X-ray | 2.00 | A | 310-407 | [»] | |
SMRi | Q12959 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108083, 144 interactors |
ComplexPortali | CPX-6168, Scribble cell polarity complex, DLG1-LLGL2-SCRIB variant CPX-6192, Scribble cell polarity complex, DLG1-LLGL1-SCRIB variant |
CORUMi | Q12959 |
DIPi | DIP-33957N |
ELMi | Q12959 |
IntActi | Q12959, 154 interactors |
MINTi | Q12959 |
STRINGi | 9606.ENSP00000345731 |
Protein family/group databases
TCDBi | 8.A.24.1.7, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family |
PTM databases
GlyConnecti | 1182, 1 N-Linked glycan (1 site) |
GlyGeni | Q12959, 1 site, 1 N-linked glycan (1 site) |
iPTMneti | Q12959 |
PhosphoSitePlusi | Q12959 |
SwissPalmi | Q12959 |
Genetic variation databases
BioMutai | DLG1 |
DMDMi | 223590196 |
Proteomic databases
EPDi | Q12959 |
jPOSTi | Q12959 |
MassIVEi | Q12959 |
MaxQBi | Q12959 |
PaxDbi | Q12959 |
PeptideAtlasi | Q12959 |
PRIDEi | Q12959 |
ProteomicsDBi | 18869 20226 59049 [Q12959-1] 59050 [Q12959-2] 59051 [Q12959-3] 59052 [Q12959-4] 59053 [Q12959-5] 59054 [Q12959-6] 59055 [Q12959-7] |
Protocols and materials databases
ABCDi | Q12959, 1 sequenced antibody |
Antibodypediai | 4273, 285 antibodies from 41 providers |
DNASUi | 1739 |
Genome annotation databases
Organism-specific databases
CTDi | 1739 |
DisGeNETi | 1739 |
GeneCardsi | DLG1 |
HGNCi | HGNC:2900, DLG1 |
HPAi | ENSG00000075711, Low tissue specificity |
MalaCardsi | DLG1 |
MIMi | 601014, gene |
neXtProti | NX_Q12959 |
OpenTargetsi | ENSG00000075711 |
Orphaneti | 199306, Cleft lip/palate |
PharmGKBi | PA27356 |
VEuPathDBi | HostDB:ENSG00000075711 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0708, Eukaryota |
GeneTreei | ENSGT00940000159409 |
HOGENOMi | CLU_001715_4_2_1 |
InParanoidi | Q12959 |
OMAi | TQHMENH |
OrthoDBi | 807583at2759 |
PhylomeDBi | Q12959 |
TreeFami | TF323171 |
Enzyme and pathway databases
BRENDAi | 2.7.4.8, 2681 |
PathwayCommonsi | Q12959 |
Reactomei | R-HSA-399719, Trafficking of AMPA receptors R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor R-HSA-447038, NrCAM interactions R-HSA-451308, Activation of Ca-permeable Kainate Receptor R-HSA-5673001, RAF/MAP kinase cascade R-HSA-8849932, Synaptic adhesion-like molecules R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244, Long-term potentiation |
SignaLinki | Q12959 |
SIGNORi | Q12959 |
Miscellaneous databases
BioGRID-ORCSi | 1739, 211 hits in 1065 CRISPR screens |
ChiTaRSi | DLG1, human |
EvolutionaryTracei | Q12959 |
GeneWikii | DLG1 |
GenomeRNAii | 1739 |
Pharosi | Q12959, Tbio |
PROi | PR:Q12959 |
RNActi | Q12959, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000075711, Expressed in corpus callosum and 243 other tissues |
ExpressionAtlasi | Q12959, baseline and differential |
Genevisiblei | Q12959, HS |
Family and domain databases
Gene3Di | 2.30.42.10, 3 hits 3.40.50.300, 1 hit |
IDEALi | IID00513 |
InterProi | View protein in InterPro IPR016313, DLG1-like IPR019590, DLG1_PEST_dom IPR008145, GK/Ca_channel_bsu IPR008144, Guanylate_kin-like_dom IPR020590, Guanylate_kinase_CS IPR015143, L27_1 IPR004172, L27_dom IPR036892, L27_dom_sf IPR027417, P-loop_NTPase IPR001478, PDZ IPR019583, PDZ_assoc IPR036034, PDZ_sf IPR036028, SH3-like_dom_sf IPR001452, SH3_domain |
Pfami | View protein in Pfam PF00625, Guanylate_kin, 1 hit PF09058, L27_1, 1 hit PF10608, MAGUK_N_PEST, 1 hit PF00595, PDZ, 3 hits PF10600, PDZ_assoc, 1 hit PF00018, SH3_1, 1 hit |
PIRSFi | PIRSF001741, MAGUK_DLGH, 1 hit |
SMARTi | View protein in SMART SM00072, GuKc, 1 hit SM00569, L27, 1 hit SM01277, MAGUK_N_PEST, 1 hit SM00228, PDZ, 3 hits SM00326, SH3, 1 hit |
SUPFAMi | SSF101288, SSF101288, 1 hit SSF50044, SSF50044, 1 hit SSF50156, SSF50156, 3 hits SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00856, GUANYLATE_KINASE_1, 1 hit PS50052, GUANYLATE_KINASE_2, 1 hit PS51022, L27, 1 hit PS50106, PDZ, 3 hits PS50002, SH3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DLG1_HUMAN | |
Accessioni | Q12959Primary (citable) accession number: Q12959 Secondary accession number(s): A5YKK7 Q12958 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | February 10, 2009 | |
Last modified: | February 23, 2022 | |
This is version 236 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families