Human Gene DLG1 (ENST00000667157.1_10) from GENCODE V47lift37
  Description: discs large MAGUK scaffold protein 1, transcript variant 12 (from RefSeq NM_001366207.1)
Gencode Transcript: ENST00000667157.1_10
Gencode Gene: ENSG00000075711.21_20
Transcript (Including UTRs)
   Position: hg19 chr3:196,769,431-197,025,483 Size: 256,053 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr3:196,771,494-197,024,075 Size: 252,582 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:196,769,431-197,025,483)mRNA (may differ from genome)Protein (893 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DLG1_HUMAN
DESCRIPTION: RecName: Full=Disks large homolog 1; AltName: Full=Synapse-associated protein 97; Short=SAP-97; Short=SAP97; AltName: Full=hDlg;
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. 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.
SUBUNIT: Homotetramer (Probable). Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3, DLGAP4 and MAP1A. May interact with HTR2A (By similarity). Interacts with LRFN1 (By similarity). Interacts through its PDZ domains with GRIN2A, KCNA1, KCNA2, KCNA3, KCNA4, KCNA5, KCND2, KCND3, GRIA1, GPR124 and GPR125. Interacts with KCNF1. Interacts with CAMK2 (By similarity). Interacts with cytoskeleton-associated proteins EPB41 and EZR. Found in a complex with KCNA5 and CAV3. Found in a complex with APC and CTNNB1. Interacts with CDH1 through binding to PIK3R1. Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12. Interacts through its guanylate kinase- like domain with KIF13B. Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C). May interact with TJAP1. Interacts with TOPK and the HTLV-1 viral Tax and HPV-18 E6 papillomavirus (HPV) oncoproteins. Interacts with PTEN (By similarity). Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2, LRFN4 and SFPQ.
INTERACTION: Q9NQT8:KIF13B; NbExp=3; IntAct=EBI-357500, EBI-766408; O60333-3:KIF1B; NbExp=4; IntAct=EBI-357481, EBI-465669;
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein (By similarity). Basolateral cell membrane (By similarity). Endoplasmic reticulum membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse. Cell membrane, sarcolemma. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells. May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity).
TISSUE SPECIFICITY: 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.
DOMAIN: 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.
DOMAIN: The PDZ domains may also mediate association to membranes by binding to EPB41 and GPR124 together with the L27 domain that binds CASK and DLG2.
DOMAIN: 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.
PTM: Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A. Isoform 2 is phosphorylated on Ser-698. Isoform 3 is phosphorylated on Ser-665 (By similarity).
SIMILARITY: Belongs to the MAGUK family.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 1 L27 domain.
SIMILARITY: Contains 3 PDZ (DHR) domains.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DLG1
Diseases sorted by gene-association score: poliomyelitis (9), chromosome 3q29 microdeletion syndrome (6), mayer-rokitansky-kuster-hauser syndrome (5), early-onset schizophrenia (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.20108-0.354 Picture PostScript Text
3' UTR -450.702063-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR020590 - Guanylate_kinase_CS
IPR004172 - L27
IPR015143 - L27_1
IPR016313 - M-assoc_guanylate_kinase
IPR019590 - MAGUK_PEST_N
IPR001478 - PDZ
IPR019583 - PDZ_assoc
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00595 - PDZ domain
PF00625 - Guanylate kinase
PF07653 - Variant SH3 domain
PF09058 - L27_1
PF10600 - PDZ-associated domain of NMDA receptors
PF10608 - Polyubiquitination (PEST) N-terminal domain of MAGUK
PF17820 - PDZ domain

SCOP Domains:
101288 - L27 domain
50044 - SH3-domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1PDR - X-ray MuPIT 2OQS - NMR MuPIT 2X7Z - X-ray MuPIT 3LRA - X-ray 3RL7 - X-ray MuPIT 3RL8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q12959
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004385 guanylate kinase activity
GO:0004721 phosphoprotein phosphatase activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008092 cytoskeletal protein binding
GO:0015276 ligand-gated ion channel activity
GO:0015459 potassium channel regulator activity
GO:0019900 kinase binding
GO:0019901 protein kinase binding
GO:0019902 phosphatase binding
GO:0031434 mitogen-activated protein kinase kinase binding
GO:0032947 protein complex scaffold
GO:0035255 ionotropic glutamate receptor binding
GO:0044325 ion channel binding
GO:0045296 cadherin binding
GO:0097016 L27 domain binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001771 immunological synapse formation
GO:0001935 endothelial cell proliferation
GO:0002088 lens development in camera-type eye
GO:0002369 T cell cytokine production
GO:0006470 protein dephosphorylation
GO:0007015 actin filament organization
GO:0007093 mitotic cell cycle checkpoint
GO:0007163 establishment or maintenance of cell polarity
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0008104 protein localization
GO:0008284 positive regulation of cell proliferation
GO:0008360 regulation of cell shape
GO:0016032 viral process
GO:0030432 peristalsis
GO:0030838 positive regulation of actin filament polymerization
GO:0030866 cortical actin cytoskeleton organization
GO:0030953 astral microtubule organization
GO:0031579 membrane raft organization
GO:0031641 regulation of myelination
GO:0032147 activation of protein kinase activity
GO:0034220 ion transmembrane transport
GO:0034629 cellular protein complex localization
GO:0042110 T cell activation
GO:0042130 negative regulation of T cell proliferation
GO:0042391 regulation of membrane potential
GO:0042982 amyloid precursor protein metabolic process
GO:0043113 receptor clustering
GO:0043268 positive regulation of potassium ion transport
GO:0043622 cortical microtubule organization
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity
GO:0045930 negative regulation of mitotic cell cycle
GO:0046037 GMP metabolic process
GO:0046710 GDP metabolic process
GO:0048608 reproductive structure development
GO:0048704 embryonic skeletal system morphogenesis
GO:0048729 tissue morphogenesis
GO:0048745 smooth muscle tissue development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051660 establishment of centrosome localization
GO:0051898 negative regulation of protein kinase B signaling
GO:0060022 hard palate development
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0070830 bicellular tight junction assembly
GO:0072659 protein localization to plasma membrane
GO:0097120 receptor localization to synapse
GO:0098609 cell-cell adhesion
GO:0098911 regulation of ventricular cardiac muscle cell action potential
GO:1902305 regulation of sodium ion transmembrane transport
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1903286 regulation of potassium ion import
GO:1903753 negative regulation of p38MAPK cascade
GO:1903760 regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
GO:1903764 regulation of potassium ion export across plasma membrane
GO:1901222 regulation of NIK/NF-kappaB signaling

Cellular Component:
GO:0001772 immunological synapse
GO:0005605 basal lamina
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0009898 cytoplasmic side of plasma membrane
GO:0014069 postsynaptic density
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0031253 cell projection membrane
GO:0031594 neuromuscular junction
GO:0033268 node of Ranvier
GO:0035748 myelin sheath abaxonal region
GO:0042383 sarcolemma
GO:0043219 lateral loop
GO:0045121 membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0097025 MPP7-DLG1-LIN7 complex
GO:0008328 ionotropic glutamate receptor complex


-  Descriptions from all associated GenBank mRNAs
  LF385118 - JP 2014500723-A/192621: Polycomb-Associated Non-Coding RNAs.
EF553524 - Homo sapiens clone DKFZp781B0426 DLG1 (DLG1) mRNA, complete cds.
AK294855 - Homo sapiens cDNA FLJ50509 complete cds, highly similar to Disks large homolog 1.
AK293967 - Homo sapiens cDNA FLJ50462 complete cds, highly similar to Disks large homolog 1.
U13896 - Human homolog of Drosophila discs large protein, isoform 2 (hdlg-2) mRNA, complete cds.
U13897 - Human homolog of Drosophila discs large protein, isoform 1 (hdlg-1) mRNA, complete cds.
BC140841 - Homo sapiens discs, large homolog 1 (Drosophila), mRNA (cDNA clone MGC:176518 IMAGE:9021709), complete cds.
BC144651 - Homo sapiens discs, large homolog 1 (Drosophila), mRNA (cDNA clone MGC:178199 IMAGE:9053182), complete cds.
AK294772 - Homo sapiens cDNA FLJ50502 complete cds, highly similar to Disks large homolog 1.
AK304280 - Homo sapiens cDNA FLJ58166 complete cds, highly similar to Disks large homolog 1.
AK310893 - Homo sapiens cDNA, FLJ17935.
AK310596 - Homo sapiens cDNA, FLJ17638.
AK311129 - Homo sapiens cDNA, FLJ18171.
BC015560 - Homo sapiens discs, large homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:3636910), partial cds.
BC028486 - Homo sapiens discs, large homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:3833188).
MA620695 - JP 2018138019-A/192621: Polycomb-Associated Non-Coding RNAs.
BC042118 - Homo sapiens cDNA clone IMAGE:4798592.
AB209536 - Homo sapiens mRNA for presynaptic protein SAP97 variant protein.
AL831922 - Homo sapiens mRNA; cDNA DKFZp761P0818 (from clone DKFZp761P0818).
LF338953 - JP 2014500723-A/146456: Polycomb-Associated Non-Coding RNAs.
LF338952 - JP 2014500723-A/146455: Polycomb-Associated Non-Coding RNAs.
LF338943 - JP 2014500723-A/146446: Polycomb-Associated Non-Coding RNAs.
LF338936 - JP 2014500723-A/146439: Polycomb-Associated Non-Coding RNAs.
LF338935 - JP 2014500723-A/146438: Polycomb-Associated Non-Coding RNAs.
LF338934 - JP 2014500723-A/146437: Polycomb-Associated Non-Coding RNAs.
LF338933 - JP 2014500723-A/146436: Polycomb-Associated Non-Coding RNAs.
LF338924 - JP 2014500723-A/146427: Polycomb-Associated Non-Coding RNAs.
MA574530 - JP 2018138019-A/146456: Polycomb-Associated Non-Coding RNAs.
MA574529 - JP 2018138019-A/146455: Polycomb-Associated Non-Coding RNAs.
MA574520 - JP 2018138019-A/146446: Polycomb-Associated Non-Coding RNAs.
MA574513 - JP 2018138019-A/146439: Polycomb-Associated Non-Coding RNAs.
MA574512 - JP 2018138019-A/146438: Polycomb-Associated Non-Coding RNAs.
MA574511 - JP 2018138019-A/146437: Polycomb-Associated Non-Coding RNAs.
MA574510 - JP 2018138019-A/146436: Polycomb-Associated Non-Coding RNAs.
MA574501 - JP 2018138019-A/146427: Polycomb-Associated Non-Coding RNAs.
LF338922 - JP 2014500723-A/146425: Polycomb-Associated Non-Coding RNAs.
MA574499 - JP 2018138019-A/146425: Polycomb-Associated Non-Coding RNAs.
AB855790 - Homo sapiens DLG1 mRNA for discs, large homolog 1 (Drosophila) transcript variant 6-v1, complete cds.
AB855791 - Homo sapiens DLG1 mRNA for discs, large homolog 1 (Drosophila) transcript variant 6-v2, complete cds.
CQ873858 - Sequence 277 from Patent WO2004076622.
DD413695 - Regulation of Mammalian Cells.
LF338905 - JP 2014500723-A/146408: Polycomb-Associated Non-Coding RNAs.
JD272386 - Sequence 253410 from Patent EP1572962.
JD367872 - Sequence 348896 from Patent EP1572962.
MA574482 - JP 2018138019-A/146408: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_PDZsPathway - Synaptic Proteins at the Synaptic Junction

Reactome (by CSHL, EBI, and GO)

Protein Q12959 (Reactome details) participates in the following event(s):

R-HSA-416320 Trafficking of GluR1-containing AMPA receptors
R-HSA-376134 NrCAM binds synapse-associated proteins
R-HSA-8849891 SALMs 1-3 bind to PSD-95 family members
R-HSA-451283 kainate receptor binds glutamate
R-HSA-451311 Activation of Ca-permeable Kainate receptors
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-447038 NrCAM interactions
R-HSA-8849932 Synaptic adhesion-like molecules
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-373760 L1CAM interactions
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-451308 Activation of Ca-permeable Kainate Receptor
R-HSA-422475 Axon guidance
R-HSA-112316 Neuronal System
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-451306 Ionotropic activity of kainate receptors
R-HSA-1266738 Developmental Biology
R-HSA-451326 Activation of kainate receptors upon glutamate binding

-  Other Names for This Gene
  Alternate Gene Symbols: A5YKK7, B4DGU1, B4DGZ8, B7ZMM0, B9EIQ5, D3DXB8, D3DXB9, DLG1 , DLG1_HUMAN, E7EWL7, E9PG21, NM_001366207, Q12958, Q12959, uc329pqf.1, uc329pqf.2
UCSC ID: ENST00000667157.1_10
RefSeq Accession: NM_001366207.1
Protein: Q12959 (aka DLG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.