DLG1
Disks large homolog 1
Also known as: dJ1061C18.1.1, DLG1_HUMAN, DLGH1, hdlg, SAP-97, SAP97
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12959
- Gene
- DLG1
- Ensembl
- ENSG00000075711
- Chromosome
- 3
- Canonical length
- 904 aa
- Protein class
- Predicted intracellular proteins, Transporters
- Subcellular location
- Vesicles,Plasma membrane,Basal body
- Quaternary structure
- Homotetramer
OverviewNCBI 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. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
Canonical amino-acid sequenceUniProt
904 residues, UniProt reviewed canonical sequence.
>Q12959|DLG1
1 MPVRKQDTQR ALHLLEEYRS KLSQTEDRQL RSSIERVINI FQSNLFQALI DIQEFYEVTL
61 LDNPKCIDRS KPSEPIQPVN TWEISSLPSS TVTSETLPSS LSPSVEKYRY QDEDTPPQEH
121 ISPQITNEVI GPELVHVSEK NLSEIENVHG FVSHSHISPI KPTEAVLPSP PTVPVIPVLP
181 VPAENTVILP TIPQANPPPV LVNTDSLETP TYVNGTDADY EYEEITLERG NSGLGFSIAG
241 GTDNPHIGDD SSIFITKIIT GGAAAQDGRL RVNDCILRVN EVDVRDVTHS KAVEALKEAG
301 SIVRLYVKRR KPVSEKIMEI KLIKGPKGLG FSIAGGVGNQ HIPGDNSIYV TKIIEGGAAH
361 KDGKLQIGDK LLAVNNVCLE EVTHEEAVTA LKNTSDFVYL KVAKPTSMYM NDGYAPPDIT
421 NSSSQPVDNH VSPSSFLGQT PASPARYSPV SKAVLGDDEI TREPRKVVLH RGSTGLGFNI
481 VGGEDGEGIF ISFILAGGPA DLSGELRKGD RIISVNSVDL RAASHEQAAA ALKNAGQAVT
541 IVAQYRPEEY SRFEAKIHDL REQMMNSSIS SGSGSLRTSQ KRSLYVRALF DYDKTKDSGL
601 PSQGLNFKFG DILHVINASD DEWWQARQVT PDGESDEVGV IPSKRRVEKK ERARLKTVKF
661 NSKTRDKGEI PDDMGSKGLK HVTSNASDSE SSYRGQEEYV LSYEPVNQQE VNYTRPVIIL
721 GPMKDRINDD LISEFPDKFG SCVPHTTRPK RDYEVDGRDY HFVTSREQME KDIQEHKFIE
781 AGQYNNHLYG TSVQSVREVA EKGKHCILDV SGNAIKRLQI AQLYPISIFI KPKSMENIME
841 MNKRLTEEQA RKTFERAMKL EQEFTEHFTA IVQGDTLEDI YNQVKQIIEE QSGSYIWVPA
901 KEKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 41 nTPM
- retina: 36 nTPM
- esophagus: 35 nTPM
- spinal cord: 35 nTPM
- parathyroid gland: 30 nTPM
- amygdala: 29 nTPM
Single-cell type
- oligodendrocytes: 2,027 nCPM
- endometrial secretory cells: 724 nCPM
- esophageal apical cells: 632 nCPM
- ocular epithelial cells: 583 nCPM
- esophageal suprabasal cells: 527 nCPM
- suprabasal keratinocytes: 453 nCPM
Immune cell
- basophil: 2.3 nTPM
- neutrophil: 2.2 nTPM
- memory B-cell: 1.5 nTPM
- MAIT T-cell: 1.3 nTPM
- eosinophil: 1.2 nTPM
- memory CD4 T-cell: 1.2 nTPM
Brain region
- white matter: 185 nTPM
- basal ganglia: 151 nTPM
- thalamus: 138 nTPM
- midbrain: 125 nTPM
- medulla oblongata: 113 nTPM
- pons: 108 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.5
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- actin filament polymerization
- amyloid precursor protein metabolic process
- astral microtubule organization
- bicellular tight junction assembly
- branching involved in ureteric bud morphogenesis
- cell-cell adhesion
- chemical synaptic transmission
- cortical actin cytoskeleton organization
- cortical microtubule organization
- embryonic skeletal system morphogenesis
- endothelial cell proliferation
- establishment of centrosome localization
- establishment or maintenance of cell polarity
- establishment or maintenance of epithelial cell apical/basal polarity
- hard palate development
- immunological synapse formation
- lens development in camera-type eye
- membrane raft organization
- membrane repolarization during ventricular cardiac muscle cell action potential
- negative regulation of epithelial cell proliferation
- negative regulation of ERK1 and ERK2 cascade
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of p38MAPK cascade
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- negative regulation of T cell proliferation
- negative regulation of transcription by RNA polymerase II
- nervous system development
- neurotransmitter receptor localization to postsynaptic specialization membrane
- peristalsis
- phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of actin filament polymerization
- positive regulation of cell population proliferation
- positive regulation of potassium ion transport
- positive regulation of protein localization to plasma membrane
- protein localization to plasma membrane
- protein localization to synapse
- protein-containing complex localization
- receptor clustering
- receptor localization to synapse
- regulation of cell shape
- regulation of membrane potential
- regulation of myelination
- regulation of postsynaptic membrane neurotransmitter receptor levels
- regulation of potassium ion export across plasma membrane
- regulation of protein localization to synapse
- regulation of sodium ion transmembrane transport
- regulation of ventricular cardiac muscle cell action potential
- reproductive structure development
- smooth muscle tissue development
- T cell proliferation
- regulation of potassium ion import
Molecular functions
- cadherin binding
- cytoskeletal protein binding
- GMP kinase activity
- ionotropic glutamate receptor binding
- kinase binding
- L27 domain binding
- molecular adaptor activity
- phosphatase binding
- phosphoprotein phosphatase activity
- potassium channel regulator activity
- protein kinase binding
- structural constituent of postsynaptic density
- transmembrane transporter binding
Cellular components
- adherens junction
- apical plasma membrane
- basement membrane
- basolateral plasma membrane
- bicellular tight junction
- cell junction
- cell projection membrane
- cell-cell junction
- cytoplasm
- cytoplasmic side of plasma membrane
- cytosol
- endoplasmic reticulum
- endoplasmic reticulum membrane
- extracellular exosome
- glutamatergic synapse
- Golgi apparatus
- immunological synapse
- intercalated disc
- lateral loop
- lateral plasma membrane
- membrane raft
- microtubule
- MPP7-DLG1-LIN7 complex
- myelin sheath abaxonal region
- neuromuscular junction
- neuron projection
- node of Ranvier
- nucleus
- perinuclear region of cytoplasm
- plasma membrane
- postsynaptic density membrane
- sarcolemma
- synaptic membrane
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- PDZ domain
- L27 domain
- Guanylate kinase-like domain
- Guanylate kinase/L-type calcium channel beta subunit
- Disks large 1-like
- Disks large homolog 1-4, PDZ-associated domain
- Disks large homologue 1, N-terminal PEST domain
- Guanylate kinase, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- SH3-like domain superfamily
- PDZ superfamily
- L27 domain superfamily
- Synaptic Scaffolding LAP/MAGUK Families
- SH3 domain
- PDZ domain
- Guanylate kinase
- PDZ-associated domain of NMDA receptors
- Polyubiquitination (PEST) N-terminal domain of MAGUK
- L27-1
- L27_1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DLG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLG1 as an antibody target. Whether an autoantibody or antibody against DLG1 could matter depends on whether native DLG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLG1 is annotated at the cell surface, where native DLG1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DLG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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