Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DLG1 Gene

Aliases for DLG1 Gene

  • Discs, Large Homolog 1 (Drosophila) 2 3
  • Synapse-Associated Protein 97 2 3 4
  • Presynaptic Protein SAP97 2 3
  • SAP-97 3 4
  • SAP97 3 4
  • Hdlg 3 4
  • Discs, Large (Drosophila) Homolog 1 2
  • Discs Large Homolog 1 2
  • 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 (Drosophila)) is a Protein Coding gene. Diseases associated with DLG1 include poliomyelitis and mayer-rokitansky-kuster-hauser syndrome. Among its related pathways are Developmental Biology and L1CAM interactions. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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, ADGRA2 and ADGRA3. 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.

    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

Antibody Products

No data available for DME Specific Peptides for DLG1 Gene

Domains & Families for DLG1 Gene

Gene 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:0004385 guanylate kinase activity TAS 7937897
GO:0004721 phosphoprotein phosphatase activity TAS 15302935
GO:0005515 protein binding IPI 8922391
GO:0008022 protein C-terminus binding IPI 11274188
GO:0008092 cytoskeletal protein binding TAS 8825652
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:

Animal Model Products

miRNA for DLG1 Gene

miRTarBase miRNAs that target DLG1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse TAS 19841189
GO:0005605 basal lamina IEA --
GO:0005634 nucleus IDA 17237226
GO:0005737 cytoplasm IDA 17237226
GO:0005783 endoplasmic reticulum IDA 21615688
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 --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001771 immunological synapse formation IEA --
GO:0001935 endothelial cell proliferation IDA 14699157
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
Potassium Experimental Pharma 0
kainate Pharma Full agonist, Agonist 0
NMDA Pharma Full agonist, Agonist 0
alanine Nutra 97
Calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glutamate
guanylate
Phosphatidylinositol
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLG1

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

In Situ Assay 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 MAF
rs7641 -- 197,043,111(-) CTCTG(C/G)TCCTT utr-variant-3-prime
rs7753 -- 197,042,926(-) ATCCA(C/T)ATGTT utr-variant-3-prime, downstream-variant-500B
rs170922 -- 197,257,073(+) CTTAA(A/G)AAATT intron-variant
rs338178 -- 197,284,149(+) AGCCA(C/G)TGCAC intron-variant
rs338179 -- 197,285,045(+) AAAAA(A/C)AACTG intron-variant

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: 39.95% 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

HapMap Linkage Disequilibrium report
DLG1
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

(2) MalaCards diseases for DLG1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
poliomyelitis
  • infantile paralysis
mayer-rokitansky-kuster-hauser syndrome
  • cauv
- elite association
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. Disruption of the interaction between myosin VI and SAP97 is associated with a reduction in the number of AMPARs at hippocampal synapses. (PMID: 19895665) Nash J.E. … MolnA!r E. (J. Neurochem. 2010) 23 67
  2. The expression of hDlg as a biomarker of the outcome in malignant fibrous histiocytomas. (PMID: 20127000) Niimi R. … Uchida A. (Oncol. Rep. 2010) 23 67
  3. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. (PMID: 19795139) Zanni G. … Chelly J. (Neurogenetics 2010) 23 67
  4. An arginine stretch limits ADAM10 exit from the endoplasmic reticulum. (PMID: 20100836) Marcello E. … PAcrez-OtaA+o I. (J. Biol. Chem. 2010) 23 67
  5. 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) 23 67

Products for DLG1 Gene

Sources for DLG1 Gene

Back to Top

Content