• Gene id: 1739

Gene Summary

• Gene Symbol: DLG1   Gene   UCSC   Ensembl
• Aliases: DLGH1, SAP-97, SAP97, hdlg
• Gene name: discs large MAGUK scaffold protein 1
• Alternate names: disks large homolog 1, dJ1061C18.1.1, discs large homolog 1, scribble cell polarity complex component, presynaptic protein SAP97, synapse-associated protein 97,
• Gene location: 3q29 (197299320: 197042559)     Exons: 24     NC_000003.12
• Gene summary(Entrez): 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 tra
• OMIM: 601014

Protein Summary

• Protein general information: Q12959  
  • Name: Disks large homolog 1 (Synapse associated protein 97) (SAP 97) (SAP97) (hDlg)
  • Length: 904  
  • Mass: 100455
  • Tissue specificity: Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Expressed in the brain (at protein level) (PubMed
• Sequence:

  MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTLLDNPKCIDRSKPSEP
  IQPVNTWEISSLPSSTVTSETLPSSLSPSVEKYRYQDEDTPPQEHISPQITNEVIGPELVHVSEKNLSEIENVHG
  FVSHSHISPIKPTEAVLPSPPTVPVIPVLPVPAENTVILPTIPQANPPPVLVNTDSLETPTYVNGTDADYEYEEI
  TLERGNSGLGFSIAGGTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAG
  SIVRLYVKRRKPVSEKIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGKLQIGDKLLAVN
  NVCLEEVTHEEAVTALKNTSDFVYLKVAKPTSMYMNDGYAPPDITNSSSQPVDNHVSPSSFLGQTPASPARYSPV
  SKAVLGDDEITREPRKVVLHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASH
  EQAAAALKNAGQAVTIVAQYRPEEYSRFEAKIHDLREQMMNSSISSGSGSLRTSQKRSLYVRALFDYDKTKDSGL
  PSQGLNFKFGDILHVINASDDEWWQARQVTPDGESDEVGVIPSKRRVEKKERARLKTVKFNSKTRDKGEIPDDMG
  SKGLKHVTSNASDSESSYRGQEEYVLSYEPVNQQEVNYTRPVIILGPMKDRINDDLISEFPDKFGSCVPHTTRPK
  RDYEVDGRDYHFVTSREQMEKDIQEHKFIEAGQYNNHLYGTSVQSVREVAEKGKHCILDVSGNAIKRLQIAQLYP
  ISIFIKPKSMENIMEMNKRLTEEQARKTFERAMKLEQEFTEHFTAIVQGDTLEDIYNQVKQIIEEQSGSYIWVPA
  KEKL

• Structural information:
  • Protein Domains: (4..6-)
    (/note="L27-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (224..31-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (319..40-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (4-)
  • Interpro: IPR016313  IPR019590  IPR008145  IPR008144  IPR020590   IPR015143  IPR004172  IPR036892  IPR027417  IPR001478  IPR019583  IPR036034  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS51022 PS50106 PS50002
  • PDB: 1PDR 2M3M 2OQS 2X7Z 3LRA 3RL7 3RL8 3W9Y 4AMH 4G69
  • PDBsum: 1PDR 2M3M 2OQS 2X7Z 3LRA 3RL7 3RL8 3W9Y 4AMH 4G69
  • DIP: 33957
  • STRING: ENSP00000345731
• Other Databases: GeneCards:  DLG1  Malacards:  DLG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IBA	biological process
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0097120	receptor localization to synapse	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0030054	cell junction	IBA	cellular component
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0043113	receptor clustering	IBA	biological process
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004385	guanylate kinase activity	TAS	molecular function
GO:0008092	cytoskeletal protein binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001657	ureteric bud development	IEA	biological process
GO:0001772	immunological synapse	IEA	cellular component
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0002369	T cell cytokine production	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030432	peristalsis	IEA	biological process
GO:0031253	cell projection membrane	IEA	cellular component
GO:0033268	node of Ranvier	IEA	cellular component
GO:0035748	myelin sheath abaxonal region	IEA	cellular component
GO:0042110	T cell activation	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0042982	amyloid precursor protein metabolic process	IEA	biological process
GO:0043219	lateral loop	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0048729	tissue morphogenesis	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IEA	biological process
GO:0098919	structural constituent of postsynaptic density	IEA	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:1902473	regulation of protein localization to synapse	IEA	biological process
GO:1903286	regulation of potassium ion import	IEA	biological process
GO:1903760	regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001771	immunological synapse formation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0015459	potassium channel regulator activity	IEA	molecular function
GO:0019900	kinase binding	IEA	molecular function
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0031579	membrane raft organization	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0031641	regulation of myelination	IEA	biological process
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0048608	reproductive structure development	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0060022	hard palate development	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0097060	synaptic membrane	IEA	cellular component
GO:1903764	regulation of potassium ion export across plasma membrane	IEA	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0097016	L27 domain binding	IPI	molecular function
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0001772	immunological synapse	TAS	cellular component
GO:0014704	intercalated disc	TAS	cellular component
GO:0072659	protein localization to plasma membrane	TAS	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0043268	positive regulation of potassium ion transport	IDA	biological process
GO:0070830	bicellular tight junction assembly	IDA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IDA	biological process
GO:0097025	MPP7-DLG1-LIN7 complex	IDA	cellular component
GO:1902305	regulation of sodium ion transmembrane transport	TAS	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0015459	potassium channel regulator activity	ISS	molecular function
GO:0098911	regulation of ventricular cardiac muscle cell action potential	ISS	biological process
GO:1903286	regulation of potassium ion import	ISS	biological process
GO:1903760	regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	ISS	biological process
GO:1903764	regulation of potassium ion export across plasma membrane	ISS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0099562	maintenance of postsynaptic density structure	IEA	biological process
GO:0046710	GDP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0001935	endothelial cell proliferation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030866	cortical actin cytoskeleton organization	IDA	biological process
GO:0030054	cell junction	IDA	cellular component
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0007015	actin filament organization	IDA	biological process
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1902473	regulation of protein localization to synapse	IDA	biological process
GO:0001772	immunological synapse	IDA	cellular component
GO:0097060	synaptic membrane	IDA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0007093	mitotic cell cycle checkpoint	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031434	mitogen-activated protein kinase kinase binding	IPI	molecular function
GO:0019902	phosphatase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004721	phosphoprotein phosphatase activity	TAS	molecular function
GO:0045930	negative regulation of mitotic cell cycle	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0015459	potassium channel regulator activity	NAS	molecular function
GO:0007163	establishment or maintenance of cell polarity	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008360	regulation of cell shape	IMP	biological process
GO:1903753	negative regulation of p38MAPK cascade	IMP	biological process
GO:1901222	regulation of NIK/NF-kappaB signaling	IMP	NOT|biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0030953	astral microtubule organization	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043622	cortical microtubule organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051660	establishment of centrosome localization	IMP	biological process
GO:0034629	cellular protein-containing complex localization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa04530	Tight junction
hsa04390	Hippo signaling pathway
hsa04660	T cell receptor signaling pathway

Diseases

Associated diseases	References
invasive ductal carcinoma	PMID:14871824
cervix uteri carcinoma in situ	PMID:15221964
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R