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Protein

Disks large homolog 1

Gene

DLG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.By similarity6 Publications

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • cytoskeletal protein binding Source: ProtInc
  • guanylate kinase activity Source: ProtInc
  • ion channel binding Source: BHF-UCL
  • ionotropic glutamate receptor binding Source: GO_Central
  • L27 domain binding Source: BHF-UCL
  • ligand-gated ion channel activity Source: Reactome
  • mitogen-activated protein kinase kinase binding Source: UniProtKB
  • phosphatase binding Source: UniProtKB
  • phosphoprotein phosphatase activity Source: UniProtKB
  • potassium channel regulator activity Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

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
  • cellular protein complex localization 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
  • mitotic cell cycle checkpoint Source: UniProtKB
  • negative regulation of epithelial cell proliferation Source: Ensembl
  • negative regulation of ERK1 and ERK2 cascade Source: UniProtKB
  • negative regulation 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 from RNA polymerase II promoter Source: UniProtKB
  • nervous system development Source: GO_Central
  • peristalsis Source: Ensembl
  • positive regulation of actin filament polymerization Source: Ensembl
  • positive regulation of cell proliferation Source: Ensembl
  • positive regulation of establishment of protein localization to plasma membrane Source: BHF-UCL
  • positive regulation of potassium ion transport Source: BHF-UCL
  • 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 sodium ion transmembrane transport Source: BHF-UCL
  • reproductive structure development Source: Ensembl
  • single organismal cell-cell adhesion Source: UniProtKB
  • smooth muscle tissue development Source: Ensembl
  • T cell activation Source: Ensembl
  • T cell cytokine production Source: Ensembl
  • viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075711-MONOMER.
ReactomeiR-HSA-399719. Trafficking of AMPA receptors.
R-HSA-447038. NrCAM interactions.
R-HSA-451308. Activation of Ca-permeable Kainate Receptor.
R-HSA-8849932. SALM protein interactions at the synapses.
SIGNORiQ12959.

Names & Taxonomyi

Protein namesi
Recommended name:
Disks large homolog 1
Alternative name(s):
Synapse-associated protein 97
Short name:
SAP-97
Short name:
SAP97
hDlg
Gene namesi
Name:DLG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2900. DLG1.

Subcellular locationi

GO - Cellular componenti

  • basal lamina Source: Ensembl
  • basolateral plasma membrane Source: UniProtKB
  • bicellular tight junction Source: BHF-UCL
  • cell-cell adherens junction Source: BHF-UCL
  • cell-cell junction Source: UniProtKB
  • cell junction Source: UniProtKB
  • cell projection membrane Source: Ensembl
  • cytoplasm Source: UniProtKB
  • cytoplasmic side of plasma membrane Source: UniProtKB
  • cytosol Source: Reactome
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • immunological synapse Source: UniProtKB
  • intercalated disc Source: BHF-UCL
  • lateral loop Source: Ensembl
  • lateral plasma membrane Source: Ensembl
  • membrane raft Source: Ensembl
  • microtubule Source: UniProtKB
  • MPP7-DLG1-LIN7 complex Source: BHF-UCL
  • myelin sheath abaxonal region Source: Ensembl
  • neuromuscular junction Source: Ensembl
  • node of Ranvier Source: Ensembl
  • nucleus Source: BHF-UCL
  • perinuclear region of cytoplasm Source: UniProtKB
  • plasma membrane Source: Reactome
  • postsynaptic density Source: GO_Central
  • postsynaptic membrane Source: GO_Central
  • sarcolemma Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Endoplasmic reticulum, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi38 – 40INI → ANA: Loss of membrane association and DLG2-binding. 1 Publication3

Organism-specific databases

DisGeNETi1739.
OpenTargetsiENSG00000075711.
PharmGKBiPA27356.

Polymorphism and mutation databases

BioMutaiDLG1.
DMDMi223590196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000945481 – 904Disks large homolog 1Add BLAST904

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei115PhosphothreonineCombined sources1
Modified residuei122PhosphoserineCombined sources1
Modified residuei138PhosphoserineCombined sources1
Modified residuei158PhosphoserineCombined sources1
Modified residuei232PhosphoserineBy similarity1
Modified residuei399PhosphotyrosineBy similarity1
Modified residuei568PhosphoserineCombined sources1
Modified residuei573PhosphoserineCombined sources1
Modified residuei575PhosphoserineCombined sources1
Modified residuei579PhosphoserineCombined sources1
Modified residuei598PhosphoserineBy similarity1
Modified residuei619PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1
Modified residuei687PhosphoserineCombined sources1
Modified residuei834PhosphoserineBy similarity1
Isoform 4 (identifier: Q12959-4)
Modified residuei676PhosphoserineCombined sourcesCurated1
Isoform 2 (identifier: Q12959-2)
Modified residuei709PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12959.
MaxQBiQ12959.
PaxDbiQ12959.
PeptideAtlasiQ12959.
PRIDEiQ12959.

PTM databases

iPTMnetiQ12959.
PhosphoSitePlusiQ12959.
SwissPalmiQ12959.

Miscellaneous databases

PMAP-CutDBA5YKK7.

Expressioni

Tissue specificityi

Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Widely expressed, with isoforms displaying different expression profiles.3 Publications

Gene expression databases

BgeeiENSG00000075711.
CleanExiHS_DLG1.
ExpressionAtlasiQ12959. baseline and differential.
GenevisibleiQ12959. HS.

Organism-specific databases

HPAiCAB016307.
HPA069593.

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 the HTLV-1 viral Tax and HPV-18 E6 papillomavirus (HPV) oncoproteins (PubMed:9192623, PubMed:10557085).By similarityCurated20 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAM17P785367EBI-357481,EBI-78188
ADGRA2Q96PE12EBI-357500,EBI-10893263
ADGRA3Q8IWK6-32EBI-357500,EBI-10949249
BTRCQ9Y2972EBI-357481,EBI-307461
Dlg4P310169EBI-357500,EBI-375655From a different organism.
E6O571252EBI-357481,EBI-7461590From a different organism.
E6P031262EBI-357481,EBI-1177242From a different organism.
E6P064633EBI-357481,EBI-1186926From a different organism.
E6P367992EBI-357481,EBI-7363822From a different organism.
KIF13BQ9NQT83EBI-357500,EBI-766408
KIF1BO60333-34EBI-357481,EBI-465669
MAP2K2P3650710EBI-357481,EBI-1056930
se6Q9ICL13EBI-357481,EBI-7461477From a different organism.

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • cytoskeletal protein binding Source: ProtInc
  • ion channel binding Source: BHF-UCL
  • ionotropic glutamate receptor binding Source: GO_Central
  • 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

Protein-protein interaction databases

BioGridi108083. 57 interactors.
DIPiDIP-33957N.
IntActiQ12959. 41 interactors.
MINTiMINT-107690.
STRINGi9606.ENSP00000345731.

Structurei

Secondary structure

1904
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi221 – 228Combined sources8
Beta strandi233 – 239Combined sources7
Beta strandi254 – 258Combined sources5
Helixi263 – 267Combined sources5
Beta strandi275 – 279Combined sources5
Helixi289 – 298Combined sources10
Beta strandi301 – 309Combined sources9
Beta strandi317 – 323Combined sources7
Beta strandi331 – 337Combined sources7
Beta strandi348 – 353Combined sources6
Helixi358 – 362Combined sources5
Beta strandi370 – 374Combined sources5
Beta strandi377 – 382Combined sources6
Helixi384 – 392Combined sources9
Beta strandi396 – 403Combined sources8
Beta strandi465 – 470Combined sources6
Beta strandi472 – 474Combined sources3
Beta strandi477 – 482Combined sources6
Beta strandi484 – 487Combined sources4
Beta strandi489 – 494Combined sources6
Helixi499 – 503Combined sources5
Beta strandi510 – 515Combined sources6
Helixi525 – 533Combined sources9
Beta strandi537 – 545Combined sources9
Helixi547 – 554Combined sources8
Beta strandi717 – 721Combined sources5
Helixi724 – 734Combined sources11
Turni736 – 738Combined sources3
Turni756 – 758Combined sources3
Helixi766 – 774Combined sources9
Beta strandi778 – 784Combined sources7
Beta strandi787 – 792Combined sources6
Helixi793 – 800Combined sources8
Turni801 – 803Combined sources3
Beta strandi805 – 808Combined sources4
Helixi813 – 820Combined sources8
Beta strandi826 – 830Combined sources5
Helixi855 – 864Combined sources10
Helixi865 – 867Combined sources3
Beta strandi869 – 872Combined sources4
Helixi877 – 892Combined sources16
Helixi900 – 902Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PDRX-ray2.80A457-555[»]
2M3MNMR-A318-406[»]
2OQSNMR-A318-406[»]
2X7ZX-ray2.00A311-407[»]
3LRAX-ray2.95A2-65[»]
3RL7X-ray2.30A/B/C/D/E/F220-317[»]
3RL8X-ray2.20A/B/C/D/E315-410[»]
3W9YX-ray2.20A712-904[»]
4AMHX-ray2.30A/B315-405[»]
4G69X-ray2.00A310-407[»]
ProteinModelPortaliQ12959.
SMRiQ12959.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12959.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 64L27PROSITE-ProRule annotationAdd BLAST61
Domaini224 – 310PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini319 – 405PDZ 2PROSITE-ProRule annotationAdd BLAST87
Domaini466 – 546PDZ 3PROSITE-ProRule annotationAdd BLAST81
Domaini581 – 651SH3PROSITE-ProRule annotationAdd BLAST71
Domaini714 – 889Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST176

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni162 – 212Interaction with SH3 domainsAdd BLAST51

Domaini

The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41 binding site mediating association to membranes in polarized and non-polarized cells.
The PDZ domains may also mediate association to membranes by binding to EPB41 and ADGRA2 together with the L27 domain that binds CASK and DLG2.
The L27 domain may regulate DLG1 self-association. The N-terminal alternatively spliced region is capable of binding several SH3 domains and also moderates the level of protein oligomerization.

Sequence similaritiesi

Belongs to the MAGUK family.Curated
Contains 1 guanylate kinase-like domain.PROSITE-ProRule annotation
Contains 1 L27 domain.PROSITE-ProRule annotation
Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0708. Eukaryota.
COG0194. LUCA.
GeneTreeiENSGT00760000118866.
HOGENOMiHOG000232102.
HOVERGENiHBG107814.
InParanoidiQ12959.
KOiK12076.
OMAiTHEHAVT.
OrthoDBiEOG091G0BB1.
PhylomeDBiQ12959.
TreeFamiTF323171.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
3.40.50.300. 2 hits.
InterProiIPR016313. DLG1.
IPR019590. DLG1_PEST_dom.
IPR008145. GK/Ca_channel_bsu.
IPR008144. Guanylate_kin-like_dom.
IPR020590. Guanylate_kinase_CS.
IPR015143. L27_1.
IPR004172. L27_dom.
IPR027417. P-loop_NTPase.
IPR001478. PDZ.
IPR019583. PDZ_assoc.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00625. Guanylate_kin. 1 hit.
PF09058. L27_1. 1 hit.
PF10608. MAGUK_N_PEST. 1 hit.
PF00595. PDZ. 3 hits.
PF10600. PDZ_assoc. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
PIRSFiPIRSF001741. MAGUK_DLGH. 1 hit.
SMARTiSM00072. GuKc. 1 hit.
SM00569. L27. 1 hit.
SM01277. MAGUK_N_PEST. 1 hit.
SM00228. PDZ. 3 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF101288. SSF101288. 1 hit.
SSF50044. SSF50044. 2 hits.
SSF50156. SSF50156. 3 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00856. GUANYLATE_KINASE_1. 1 hit.
PS50052. GUANYLATE_KINASE_2. 1 hit.
PS51022. L27. 1 hit.
PS50106. PDZ. 3 hits.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q12959-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:904
Mass (Da):100,455
Last modified:February 10, 2009 - v2
Checksum:i6722993A84D0F761
GO
Isoform 2 (identifier: Q12959-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     669-680: EIPDDMGSKGLK → QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ

Show »
Length:926
Mass (Da):103,321
Checksum:i85BD4E93A17D74C4
GO
Isoform 3 (identifier: Q12959-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-194: Missing.

Show »
Length:871
Mass (Da):97,076
Checksum:i78CB64FC6DE66BB1
GO
Isoform 4 (identifier: Q12959-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-194: Missing.
     669-680: EIPDDMGSKGLK → QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ

Show »
Length:893
Mass (Da):99,942
Checksum:i3A026E9BAA62FFB7
GO
Isoform 5 (identifier: Q12959-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-194: Missing.
     195-212: Missing.

Show »
Length:853
Mass (Da):95,166
Checksum:i2E7EE3F5954BA3E0
GO
Isoform 6 (identifier: Q12959-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     681-693: Missing.

Show »
Length:891
Mass (Da):99,090
Checksum:i5DB5256100623D0B
GO
Isoform 7 (identifier: Q12959-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     693-693: Y → YLILITDEYGCSKG

Show »
Length:917
Mass (Da):101,849
Checksum:iFE8911BB05B03211
GO
Isoform 8 (identifier: Q12959-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MPVRKQDTQR...DRSKPSEPIQ → MNYIFGNNTL...DCISVATSST
     78-193: Missing.

Note: No experimental confirmation available.
Show »
Length:788
Mass (Da):87,248
Checksum:i8EB77B3368768FBD
GO
Isoform 9 (identifier: Q12959-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MPVRKQDTQR...DRSKPSEPIQ → MNYIFGNNTL...DCISVATSST
     78-193: Missing.
     693-693: Y → YLILITDEYGCSKG
     694-694: Missing.

Note: No experimental confirmation available.
Show »
Length:800
Mass (Da):88,485
Checksum:iC67306E88A5A473D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237S → N in BAG57902 (PubMed:14702039).Curated1
Sequence conflicti801E → G in AAA50598 (PubMed:7937897).Curated1
Sequence conflicti801E → G in AAA50599 (PubMed:7937897).Curated1
Isoform 4 (identifier: Q12959-4)
Sequence conflicti636Missing in AAI44652 (PubMed:15489334).Combined sourcesCurated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054334140K → R.Corresponds to variant rs1802668dbSNPEnsembl.1
Natural variantiVAR_054335278R → Q.2 PublicationsCorresponds to variant rs1134986dbSNPEnsembl.1
Natural variantiVAR_054336899P → L.Corresponds to variant rs34492126dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0458961 – 77MPVRK…SEPIQ → MNYIFGNNTLLYSRGSRGGN TSSSHGSAGPKQKHWAKKGS SDELQAEPEPSRWQQIVAFF TRRHSFIDCISVATSST in isoform 8 and isoform 9. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_04589778 – 193Missing in isoform 8 and isoform 9. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_012862162 – 194Missing in isoform 3, isoform 4 and isoform 5. 2 PublicationsAdd BLAST33
Alternative sequenceiVSP_012863195 – 212Missing in isoform 5. CuratedAdd BLAST18
Alternative sequenceiVSP_003150669 – 680EIPDD…SKGLK → QSFNDKRKKNLFSRKFPFYK NKDQSEQETSDADQ in isoform 2 and isoform 4. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_012864681 – 693Missing in isoform 6. CuratedAdd BLAST13
Alternative sequenceiVSP_012865693Y → YLILITDEYGCSKG in isoform 7 and isoform 9. 1 Publication1
Alternative sequenceiVSP_045898694Missing in isoform 9. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13896 mRNA. Translation: AAA50598.1.
U13897 mRNA. Translation: AAA50599.1.
AK294772 mRNA. Translation: BAG57902.1.
AK294855 mRNA. Translation: BAG57959.1.
EF553524 mRNA. Translation: ABQ66269.1.
AC068302 Genomic DNA. No translation available.
AC092937 Genomic DNA. No translation available.
CH471191 Genomic DNA. Translation: EAW53610.1.
CH471191 Genomic DNA. Translation: EAW53611.1.
CH471191 Genomic DNA. Translation: EAW53612.1.
CH471191 Genomic DNA. Translation: EAW53614.1.
BC140841 mRNA. Translation: AAI40842.1.
BC144651 mRNA. Translation: AAI44652.1.
CCDSiCCDS3327.1. [Q12959-2]
CCDS43194.1. [Q12959-1]
CCDS56300.1. [Q12959-8]
CCDS56301.1. [Q12959-9]
PIRiI38756.
I38757.
RefSeqiNP_001091894.1. NM_001098424.1. [Q12959-1]
NP_001191315.1. NM_001204386.1.
NP_001191316.1. NM_001204387.1. [Q12959-9]
NP_001191317.1. NM_001204388.1. [Q12959-8]
NP_001277912.1. NM_001290983.1. [Q12959-1]
NP_004078.2. NM_004087.2. [Q12959-2]
XP_005269346.1. XM_005269289.3. [Q12959-2]
XP_011510804.1. XM_011512502.2. [Q12959-1]
XP_011510805.1. XM_011512503.1.
XP_011510807.1. XM_011512505.1. [Q12959-3]
XP_011510808.1. XM_011512506.1. [Q12959-5]
XP_016861289.1. XM_017005800.1. [Q12959-2]
XP_016861290.1. XM_017005801.1. [Q12959-2]
XP_016861291.1. XM_017005802.1. [Q12959-2]
XP_016861292.1. XM_017005803.1. [Q12959-2]
XP_016861294.1. XM_017005805.1. [Q12959-1]
XP_016861295.1. XM_017005806.1. [Q12959-4]
XP_016861296.1. XM_017005807.1. [Q12959-4]
XP_016861297.1. XM_017005808.1. [Q12959-4]
XP_016861298.1. XM_017005809.1. [Q12959-4]
XP_016861299.1. XM_017005810.1.
XP_016861305.1. XM_017005816.1. [Q12959-3]
XP_016861306.1. XM_017005817.1. [Q12959-3]
XP_016861307.1. XM_017005818.1. [Q12959-3]
XP_016861308.1. XM_017005819.1. [Q12959-3]
XP_016861309.1. XM_017005820.1. [Q12959-5]
UniGeneiHs.292549.

Genome annotation databases

EnsembliENST00000346964; ENSP00000345731; ENSG00000075711. [Q12959-2]
ENST00000392382; ENSP00000376187; ENSG00000075711. [Q12959-3]
ENST00000419354; ENSP00000407531; ENSG00000075711. [Q12959-1]
ENST00000422288; ENSP00000413238; ENSG00000075711. [Q12959-5]
ENST00000443183; ENSP00000396658; ENSG00000075711. [Q12959-9]
ENST00000448528; ENSP00000391732; ENSG00000075711. [Q12959-1]
ENST00000450955; ENSP00000411278; ENSG00000075711. [Q12959-4]
ENST00000452595; ENSP00000398939; ENSG00000075711. [Q12959-8]
GeneIDi1739.
KEGGihsa:1739.
UCSCiuc003fxn.4. human. [Q12959-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13896 mRNA. Translation: AAA50598.1.
U13897 mRNA. Translation: AAA50599.1.
AK294772 mRNA. Translation: BAG57902.1.
AK294855 mRNA. Translation: BAG57959.1.
EF553524 mRNA. Translation: ABQ66269.1.
AC068302 Genomic DNA. No translation available.
AC092937 Genomic DNA. No translation available.
CH471191 Genomic DNA. Translation: EAW53610.1.
CH471191 Genomic DNA. Translation: EAW53611.1.
CH471191 Genomic DNA. Translation: EAW53612.1.
CH471191 Genomic DNA. Translation: EAW53614.1.
BC140841 mRNA. Translation: AAI40842.1.
BC144651 mRNA. Translation: AAI44652.1.
CCDSiCCDS3327.1. [Q12959-2]
CCDS43194.1. [Q12959-1]
CCDS56300.1. [Q12959-8]
CCDS56301.1. [Q12959-9]
PIRiI38756.
I38757.
RefSeqiNP_001091894.1. NM_001098424.1. [Q12959-1]
NP_001191315.1. NM_001204386.1.
NP_001191316.1. NM_001204387.1. [Q12959-9]
NP_001191317.1. NM_001204388.1. [Q12959-8]
NP_001277912.1. NM_001290983.1. [Q12959-1]
NP_004078.2. NM_004087.2. [Q12959-2]
XP_005269346.1. XM_005269289.3. [Q12959-2]
XP_011510804.1. XM_011512502.2. [Q12959-1]
XP_011510805.1. XM_011512503.1.
XP_011510807.1. XM_011512505.1. [Q12959-3]
XP_011510808.1. XM_011512506.1. [Q12959-5]
XP_016861289.1. XM_017005800.1. [Q12959-2]
XP_016861290.1. XM_017005801.1. [Q12959-2]
XP_016861291.1. XM_017005802.1. [Q12959-2]
XP_016861292.1. XM_017005803.1. [Q12959-2]
XP_016861294.1. XM_017005805.1. [Q12959-1]
XP_016861295.1. XM_017005806.1. [Q12959-4]
XP_016861296.1. XM_017005807.1. [Q12959-4]
XP_016861297.1. XM_017005808.1. [Q12959-4]
XP_016861298.1. XM_017005809.1. [Q12959-4]
XP_016861299.1. XM_017005810.1.
XP_016861305.1. XM_017005816.1. [Q12959-3]
XP_016861306.1. XM_017005817.1. [Q12959-3]
XP_016861307.1. XM_017005818.1. [Q12959-3]
XP_016861308.1. XM_017005819.1. [Q12959-3]
XP_016861309.1. XM_017005820.1. [Q12959-5]
UniGeneiHs.292549.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PDRX-ray2.80A457-555[»]
2M3MNMR-A318-406[»]
2OQSNMR-A318-406[»]
2X7ZX-ray2.00A311-407[»]
3LRAX-ray2.95A2-65[»]
3RL7X-ray2.30A/B/C/D/E/F220-317[»]
3RL8X-ray2.20A/B/C/D/E315-410[»]
3W9YX-ray2.20A712-904[»]
4AMHX-ray2.30A/B315-405[»]
4G69X-ray2.00A310-407[»]
ProteinModelPortaliQ12959.
SMRiQ12959.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108083. 57 interactors.
DIPiDIP-33957N.
IntActiQ12959. 41 interactors.
MINTiMINT-107690.
STRINGi9606.ENSP00000345731.

PTM databases

iPTMnetiQ12959.
PhosphoSitePlusiQ12959.
SwissPalmiQ12959.

Polymorphism and mutation databases

BioMutaiDLG1.
DMDMi223590196.

Proteomic databases

EPDiQ12959.
MaxQBiQ12959.
PaxDbiQ12959.
PeptideAtlasiQ12959.
PRIDEiQ12959.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346964; ENSP00000345731; ENSG00000075711. [Q12959-2]
ENST00000392382; ENSP00000376187; ENSG00000075711. [Q12959-3]
ENST00000419354; ENSP00000407531; ENSG00000075711. [Q12959-1]
ENST00000422288; ENSP00000413238; ENSG00000075711. [Q12959-5]
ENST00000443183; ENSP00000396658; ENSG00000075711. [Q12959-9]
ENST00000448528; ENSP00000391732; ENSG00000075711. [Q12959-1]
ENST00000450955; ENSP00000411278; ENSG00000075711. [Q12959-4]
ENST00000452595; ENSP00000398939; ENSG00000075711. [Q12959-8]
GeneIDi1739.
KEGGihsa:1739.
UCSCiuc003fxn.4. human. [Q12959-1]

Organism-specific databases

CTDi1739.
DisGeNETi1739.
GeneCardsiDLG1.
HGNCiHGNC:2900. DLG1.
HPAiCAB016307.
HPA069593.
MIMi601014. gene.
neXtProtiNX_Q12959.
OpenTargetsiENSG00000075711.
PharmGKBiPA27356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0708. Eukaryota.
COG0194. LUCA.
GeneTreeiENSGT00760000118866.
HOGENOMiHOG000232102.
HOVERGENiHBG107814.
InParanoidiQ12959.
KOiK12076.
OMAiTHEHAVT.
OrthoDBiEOG091G0BB1.
PhylomeDBiQ12959.
TreeFamiTF323171.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075711-MONOMER.
ReactomeiR-HSA-399719. Trafficking of AMPA receptors.
R-HSA-447038. NrCAM interactions.
R-HSA-451308. Activation of Ca-permeable Kainate Receptor.
R-HSA-8849932. SALM protein interactions at the synapses.
SIGNORiQ12959.

Miscellaneous databases

ChiTaRSiDLG1. human.
EvolutionaryTraceiQ12959.
GeneWikiiDLG1.
GenomeRNAii1739.
PMAP-CutDBA5YKK7.
PROiQ12959.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075711.
CleanExiHS_DLG1.
ExpressionAtlasiQ12959. baseline and differential.
GenevisibleiQ12959. HS.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
3.40.50.300. 2 hits.
InterProiIPR016313. DLG1.
IPR019590. DLG1_PEST_dom.
IPR008145. GK/Ca_channel_bsu.
IPR008144. Guanylate_kin-like_dom.
IPR020590. Guanylate_kinase_CS.
IPR015143. L27_1.
IPR004172. L27_dom.
IPR027417. P-loop_NTPase.
IPR001478. PDZ.
IPR019583. PDZ_assoc.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00625. Guanylate_kin. 1 hit.
PF09058. L27_1. 1 hit.
PF10608. MAGUK_N_PEST. 1 hit.
PF00595. PDZ. 3 hits.
PF10600. PDZ_assoc. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
PIRSFiPIRSF001741. MAGUK_DLGH. 1 hit.
SMARTiSM00072. GuKc. 1 hit.
SM00569. L27. 1 hit.
SM01277. MAGUK_N_PEST. 1 hit.
SM00228. PDZ. 3 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF101288. SSF101288. 1 hit.
SSF50044. SSF50044. 2 hits.
SSF50156. SSF50156. 3 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00856. GUANYLATE_KINASE_1. 1 hit.
PS50052. GUANYLATE_KINASE_2. 1 hit.
PS51022. L27. 1 hit.
PS50106. PDZ. 3 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDLG1_HUMAN
AccessioniPrimary (citable) accession number: Q12959
Secondary accession number(s): A5YKK7
, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, E7EWL7, E9PG21, Q12958
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 193 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.