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Aliases for DLG1 Gene

Aliases for DLG1 Gene

  • Discs Large Homolog 1, Scribble Cell Polarity Complex Component 2 3
  • Synapse-Associated Protein 97 2 3 4
  • Discs, Large Homolog 1 (Drosophila) 2 5
  • Presynaptic Protein SAP97 2 3
  • Discs Large Homolog 1 2 3
  • SAP-97 3 4
  • SAP97 3 4
  • Hdlg 3 4
  • Discs, Large Homolog 1 (Drosophila) Transcript Variant 6-V1 3
  • Discs, Large Homolog 1 (Drosophila) Transcript Variant 6-V2 3
  • Discs, Large (Drosophila) Homolog 1 2
  • Discs, Large Homolog 1 3
  • DJ1061C18.1.1 3
  • DLGH1 3

External Ids for DLG1 Gene

Previous GeneCards Identifiers for DLG1 Gene

  • GC03M192736
  • GC03M198177
  • GC03M198097
  • GC03M198259
  • GC03M196769
  • GC03M194068

Summaries for DLG1 Gene

Entrez Gene Summary for DLG1 Gene

  • This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]

GeneCards Summary for DLG1 Gene

DLG1 (Discs Large Homolog 1, Scribble Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with DLG1 include Chromosome 3Q29 Microdeletion Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. Among its related pathways are HTLV-I infection and Trafficking of AMPA receptors. GO annotations related to this gene include protein kinase binding and ion channel binding. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for DLG1 Gene

  • 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.

Gene Wiki entry for DLG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG1 Gene

Genomics for DLG1 Gene

Regulatory Elements for DLG1 Gene

Enhancers for DLG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLG1 on UCSC Golden Path with GeneCards custom track

Promoters for DLG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLG1 Gene

Chromosome:
3
Start:
197,042,560 bp from pter
End:
197,299,300 bp from pter
Size:
256,741 bases
Orientation:
Minus strand

Genomic View for DLG1 Gene

Genes around DLG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG1 Gene

Proteins for DLG1 Gene

  • Protein details for DLG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12959-DLG1_HUMAN
    Recommended name:
    Disks large homolog 1
    Protein Accession:
    Q12959
    Secondary Accessions:
    • A5YKK7
    • B4DGU1
    • B4DGZ8
    • B7ZMM0
    • B9EIQ5
    • D3DXB8
    • D3DXB9
    • E7EWL7
    • E9PG21
    • Q12958

    Protein attributes for DLG1 Gene

    Size:
    904 amino acids
    Molecular mass:
    100455 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for DLG1 Gene

    Alternative splice isoforms for DLG1 Gene

neXtProt entry for DLG1 Gene

Proteomics data for DLG1 Gene at MOPED

Post-translational modifications for DLG1 Gene

  • Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity).
  • Ubiquitination at Lys 401
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DLG1 Gene

Domains & Families for DLG1 Gene

Suggested Antigen Peptide Sequences for DLG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12959

UniProtKB/Swiss-Prot:

DLG1_HUMAN :
  • 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.
  • Belongs to the MAGUK family.
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.
  • 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.
  • Contains 1 guanylate kinase-like domain.
  • Contains 1 L27 domain.
  • Contains 3 PDZ (DHR) domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG1: view

Function for DLG1 Gene

Molecular function for DLG1 Gene

GENATLAS Biochemistry:
Drosophila tumor suppressor gene,discs large (Dlg) homolog 1,involved in coupling the cytoskeleton to the cell membrane
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015459 potassium channel regulator activity NAS 10779557
GO:0097016 L27 domain binding IPI 17332497
genes like me logo Genes that share ontologies with DLG1: view
genes like me logo Genes that share phenotypes with DLG1: view

Animal Models for DLG1 Gene

MGI Knock Outs for DLG1:

miRNA for DLG1 Gene

miRTarBase miRNAs that target DLG1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLG1 Gene

Localization for DLG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLG1 Gene

Membrane; Peripheral membrane protein. Basolateral cell membrane. Endoplasmic reticulum membrane. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLG1 Gene COMPARTMENTS Subcellular localization image for DLG1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17237226
GO:0005874 microtubule IDA 21615688
GO:0016323 basolateral plasma membrane IDA 8922391
GO:0042383 sarcolemma IEA --
GO:0043219 lateral loop IEA --
genes like me logo Genes that share ontologies with DLG1: view

Pathways & Interactions for DLG1 Gene

genes like me logo Genes that share pathways with DLG1: view

SIGNOR curated interactions for DLG1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 20551903
GO:0001657 ureteric bud development IEA --
GO:0007268 synaptic transmission TAS --
GO:0007399 nervous system development IBA --
GO:0008104 protein localization IEA --
genes like me logo Genes that share ontologies with DLG1: view

Drugs & Compounds for DLG1 Gene

(11) Drugs for DLG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for DLG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLG1: view

Transcripts for DLG1 Gene

Unigene Clusters for DLG1 Gene

Discs, large homolog 1 (Drosophila):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLG1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - - - - - - - - -
SP2: -
SP3: - -
SP4:
SP5:
SP6: - - - -
SP7: - -
SP8: - - - - - - -
SP9:
SP10: - - - -
SP11:
SP12:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for DLG1 Gene

GeneLoc Exon Structure for
DLG1
ECgene alternative splicing isoforms for
DLG1

Expression for DLG1 Gene

mRNA expression in normal human tissues for DLG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DLG1 Gene

This gene is overexpressed in Frontal cortex (9.1), Amniocyte (8.6), Heart (7.0), and Placenta (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DLG1 Gene



SOURCE GeneReport for Unigene cluster for DLG1 Gene Hs.292549

mRNA Expression by UniProt/SwissProt for DLG1 Gene

Q12959-DLG1_HUMAN
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.
genes like me logo Genes that share expression patterns with DLG1: view

Protein tissue co-expression partners for DLG1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for DLG1 Gene

Orthologs for DLG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLG1 35
  • 91.19 (n)
  • 92.47 (a)
DLG1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLG1 35
  • 95.54 (n)
  • 98.6 (a)
DLG1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlg1 35
  • 90.39 (n)
  • 95.79 (a)
Dlg1 16
Dlg1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DLG1 35
  • 99.82 (n)
  • 99.89 (a)
DLG1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlg1 35
  • 88.04 (n)
  • 92.69 (a)
oppossum
(Monodelphis domestica)
Mammalia DLG1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLG1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLG1 35
  • 85.1 (n)
  • 93.84 (a)
DLG1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLG1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlg1 35
  • 79.57 (n)
  • 85.84 (a)
Str.225 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7368 35
zebrafish
(Danio rerio)
Actinopterygii dlg1 35
  • 72.68 (n)
  • 78.73 (a)
dlg1 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dlg1 37
  • 60 (a)
dlg1 35
  • 54.22 (n)
  • 56.78 (a)
dlg1 36
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000255 35
  • 55.78 (n)
  • 62.48 (a)
worm
(Caenorhabditis elegans)
Secernentea dlg-1 37
  • 45 (a)
dlg-1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5091 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 36
  • 53 (a)
OneToMany
Species with no ortholog for DLG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLG1 Gene

ENSEMBL:
Gene Tree for DLG1 (if available)
TreeFam:
Gene Tree for DLG1 (if available)

Paralogs for DLG1 Gene

Paralogs for DLG1 Gene

genes like me logo Genes that share paralogs with DLG1: view

Variants for DLG1 Gene

Sequence variations from dbSNP and Humsavar for DLG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1802668 - 197,194,489(-) AGAGA(A/G)GAACT nc-transcript-variant, reference, missense
rs1134986 - 197,138,371(-) ATTAC(A/G)AGTAA nc-transcript-variant, reference, missense
rs34492126 - 197,044,642(-) GGTTC(C/T)GGCAA reference, missense
rs7641 -- 197,043,111(-) CTCTG(C/G)TCCTT utr-variant-3-prime
rs7753 -- 197,042,926(-) ATCCA(C/T)ATGTT downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DLG1 Gene

Variant ID Type Subtype PubMed ID
dgv5376n71 CNV Loss 21882294
nsv878195 CNV Gain 21882294
nsv878196 CNV Gain 21882294
nsv461132 CNV Loss 19166990
nsv516873 CNV Gain+Loss 19592680
esv2425210 CNV Deletion 19546169
esv2676138 CNV Deletion 23128226
nsv461133 CNV Loss 19166990
nsv878197 CNV Gain+Loss 21882294
dgv1557e1 CNV Complex 17122850
nsv428431 CNV Gain+Loss 18775914
dgv1558e1 CNV Complex 17122850
esv2580756 CNV Deletion 19546169
nsv829830 CNV Gain 17160897
nsv482952 CNV Gain 15286789
dgv635n27 CNV Gain 19166990
nsv471149 CNV Gain 18288195
nsv10393 CNV Gain 18304495
nsv4186 CNV Loss 18451855
nsv822423 CNV Loss 20364138
dgv911e199 CNV Deletion 23128226
nsv819059 CNV Gain 19587683
esv2726620 CNV Deletion 23290073
esv28260 CNV Gain+Loss 19812545
nsv821583 CNV Deletion 20802225
nsv878198 CNV Loss 21882294
esv2726621 CNV Deletion 23290073
nsv878199 CNV Loss 21882294
nsv818205 CNV Gain 17921354

Variation tolerance for DLG1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLG1 Gene

Human Gene Mutation Database (HGMD)
DLG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG1 Gene

Disorders for DLG1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DLG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 3q29 microdeletion syndrome
  • 3q subtelomere deletion syndrome
mayer-rokitansky-kuster-hauser syndrome
  • cauv
human t-cell leukemia virus type 1
  • htlv-1
poliomyelitis
  • infantile paralysis
- elite association - COSMIC cancer census association via MalaCards
Search DLG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLG1

Genetic Association Database (GAD)
DLG1
Human Genome Epidemiology (HuGE) Navigator
DLG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLG1
genes like me logo Genes that share disorders with DLG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLG1 Gene

Publications for DLG1 Gene

  1. Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. (PMID: 7937897) Lue R.A. … Chishti A.H. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 67
  2. Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. (PMID: 19213956) El-Haou S. … Hatem S.N. (Circ. Res. 2009) 3 23
  3. Knockdown of synapse-associated protein Dlg1 reduces syncytium formation induced by human T-cell leukemia virus type 1. (PMID: 18461433) Yoshida S. … Fujii M. (Virus Genes 2008) 3 23
  4. An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. (PMID: 18665322) Sato J. … Nishikawa T. (J Neural Transm 2008) 3 23
  5. Functional involvement of human discs large tumor suppressor in cytokinesis. (PMID: 18760273) Unno K. … Chishti A.H. (Exp. Cell Res. 2008) 3 23

Products for DLG1 Gene

Sources for DLG1 Gene

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