DLG1 - discs large MAGUK scaffold protein 1 Gene

Homo sapiens

Also known as hdlg; DLGH1; SAP97; SAP-97

Gene ID: 1739 | Gene type: protein coding

About DLG1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:197,042,560-197,299,321 (from NCBI)

This gene has 71 transcripts (splice variants), 162 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 13.8), brain (RPKM 11.7) and 25 other tissues.

Summary

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]

DLG1 Products(27)

mRNA	Protein	Name
NM_001098424.1	NP_001091894.1	disks large homolog 1 isoform 1
NM_001204386.1	NP_001191315.1	disks large homolog 1 isoform 3
NM_001204387.2	NP_001191316.1	disks large homolog 1 isoform 4
NM_001204388.2	NP_001191317.1	disks large homolog 1 isoform 5
NM_001290983.2	NP_001277912.1	disks large homolog 1 isoform 1
NM_001363865.1	NP_001350794.1	disks large homolog 1 isoform 6
NM_001366203.1	NP_001353132.1	disks large homolog 1 isoform 7
NM_001366204.1	NP_001353133.1	disks large homolog 1 isoform 8
NM_001366205.1	NP_001353134.1	disks large homolog 1 isoform 3
NM_001366206.1	NP_001353135.1	disks large homolog 1 isoform 9
NM_001366207.1	NP_001353136.1	disks large homolog 1 isoform 6
NM_001366208.1	NP_001353137.1	disks large homolog 1 isoform 8
NM_001366209.1	NP_001353138.1	disks large homolog 1 isoform 8
NM_001366210.1	NP_001353139.1	disks large homolog 1 isoform 6
NM_001366211.1	NP_001353140.1	disks large homolog 1 isoform 10
NM_001366212.1	NP_001353141.1	disks large homolog 1 isoform 8
NM_001366213.1	NP_001353142.1	disks large homolog 1 isoform 3
NM_001366214.1	NP_001353143.1	disks large homolog 1 isoform 11
NM_001366215.1	NP_001353144.1	disks large homolog 1 isoform 6
NM_001366216.1	NP_001353145.1	disks large homolog 1 isoform 12
NM_001366217.1	NP_001353146.1	disks large homolog 1 isoform 10
NM_001366218.1	NP_001353147.1	disks large homolog 1 isoform 1
NM_001366219.1	NP_001353148.1	disks large homolog 1 isoform 12
NM_001366220.1	NP_001353149.1	disks large homolog 1 isoform 13
NM_001366221.1	NP_001353150.1	disks large homolog 1 isoform 14
NM_001366222.1	NP_001353151.1	disks large homolog 1 isoform 15
NM_004087.2	NP_004078.2	disks large homolog 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L27 domain binding	IPI IPI: Inferred from physical interaction	17332497	GOA
enables kinase binding	IDA IDA: Inferred from direct assay	21119615	GOA
enables phosphatase binding	IPI IPI: Inferred from physical interaction	10646847	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	12970345	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8638125	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	12970345	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin filament organization	IDA IDA: Inferred from direct assay	14699157	GOA
involved in astral microtubule organization	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in bicellular tight junction assembly	IDA IDA: Inferred from direct assay	17332497	GOA
involved in cell-cell adhesion	IDA IDA: Inferred from direct assay	14699157	GOA
involved in cortical actin cytoskeleton organization	IDA IDA: Inferred from direct assay	14699157	GOA
involved in cortical microtubule organization	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in endothelial cell proliferation	IDA IDA: Inferred from direct assay	14699157	GOA
involved in establishment of centrosome localization	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in negative regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in negative regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	10656683	GOA
involved in negative regulation of p38MAPK cascade	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in positive regulation of potassium ion transport	IDA IDA: Inferred from direct assay	12970345	GOA
involved in positive regulation of protein localization to plasma membrane	IDA IDA: Inferred from direct assay	12970345	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	17332497	GOA
involved in protein-containing complex localization	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	12970345	GOA
NOT involved in regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	20551903	GOA
involved in regulation of protein localization to synapse	IDA IDA: Inferred from direct assay	23676497	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21615688	GOA
part of MPP7-DLG1-LIN7 complex	IDA IDA: Inferred from direct assay	17237226	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	8922391	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	17332497	GOA
located in cell junction	IDA IDA: Inferred from direct assay	12857860	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	21615688	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17237226	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	21615688	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21615688	GOA
located in immunological synapse	IDA IDA: Inferred from direct assay	20551903	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21615688	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17237226	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	21615688	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21849460	GOA
located in synaptic membrane	IDA IDA: Inferred from direct assay	23676497	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLG1 Protein Structure

L27_1

MAGUK_N_PEST

PDZ

PDZ_assoc

PDZ

SH3_1

Guanylate_kin

0
200
400
600
800
904 a.a.

Protein Preferred Names

Protein Names

disks large homolog 1

dJ1061C18.1.1

DLG1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DLG1	Q12959	VANGL2	Homo sapiens	Q9ULK5	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	MAP2K2	Homo sapiens	P36507	Y2H	21615688
Intra	DLG1	Q12959	MAP2K2	Homo sapiens	P36507	Anti Bait CoIP	21615688
Intra	DLG1	Q12959	ARHGEF16	Homo sapiens	Q5VV41	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	ADGRA2	Homo sapiens	Q96PE1	Y2H	15021905
Intra	DLG1	Q12959	ADGRA2	Homo sapiens	Q96PE1	Phage Display	24550280
Intra	DLG1	Q12959	TANC1	Homo sapiens	Q9C0D5	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	TANC1	Homo sapiens	Q9C0D5	MST	30126976
Cross	DLG1	Q12959	E6	Human papillomavirus	P06427	SLC	22898364
Cross	DLG1	Q12959	E6	Human papillomavirus	P06427	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P03126	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P03126	Pull Down	16103886
Cross	DLG1	Q12959	E6	Human papillomavirus	P03126	Pull Down	12444549
Intra	DLG1	Q12959	FAM163B	Homo sapiens	P0C2L3	Phage Display	24550280
Intra	DLG1	Q12959	FAM163B	Homo sapiens	P0C2L3	P8 Filamentous Phage	30126976
Cross	DLG1	Q12959	E6	Human papillomavirus	P50804	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P24835	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P27228	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P21735	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P54667	Phage Display	24550280
Cross	DLG1	Q12959	E6	Human papillomavirus	P06463	Pull Down	12444549
Cross	DLG1	Q12959	E6	Human papillomavirus	P06463	Phage Display	24550280
Intra	DLG1	Q12959	PRR5	Homo sapiens	P85299	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	CD1D	Homo sapiens	P15813	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	ANO2	Homo sapiens	Q9NQ90	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	CALHM3	Homo sapiens	Q86XJ0	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	GRIN2B	Homo sapiens	Q13224	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	NET1	Homo sapiens	Q7Z628	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	NET1	Homo sapiens	Q7Z628	Phage Display	24550280
Intra	DLG1	Q12959	HEATR5B	Homo sapiens	Q9P2D3	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	FRMPD4	Homo sapiens	Q14CM0	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	ANO9	Homo sapiens	A1A5B4	Phage Display	24550280
Intra	DLG1	Q12959	ANO9	Homo sapiens	A1A5B4	Ub Reconstruction	21525870
Intra	DLG1	Q12959	CYSLTR2	Homo sapiens	Q9NS75	Phage Display	24550280
Intra	DLG1	Q12959	CYSLTR2	Homo sapiens	Q9NS75	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	CRHR1	Homo sapiens	P34998	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	KIF1B	Homo sapiens	O60333-3	Y2H	12097473
Intra	DLG1	Q12959	KIF1B	Homo sapiens	O60333-3	Pull Down	12097473
Intra	DLG1	Q12959	MAPK12	Homo sapiens	P53778	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	KCNA4	Homo sapiens	P22459	Phage Display	24550280
Intra	DLG1	Q12959	GUCY1A2	Homo sapiens	P33402	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	PKP4	Homo sapiens	Q99569	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	CTNND2	Homo sapiens	Q9UQB3	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	CTNND2	Homo sapiens	Q9UQB3	Phage Display	24550280
Intra	DLG1	Q12959	APC	Homo sapiens	P25054	X-Ray Diffraction	23185543
Intra	DLG1	Q12959	APC	Homo sapiens	P25054	P8 Filamentous Phage	30126976
Cross	DLG1	Q12959	E6	Human papillomavirus	P36799	Pull Down	15507623
Intra	DLG1	Q12959	RALBP1	Homo sapiens	Q15311	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	SLC16A3	Homo sapiens	O15427	P8 Filamentous Phage	30126976
Intra	DLG1	Q12959	ADAM17	Homo sapiens	P78536	IF	12668732
Intra	DLG1	Q12959	ADAM17	Homo sapiens	P78536	Pull Down	12668732
Intra	DLG1	Q12959	ADAM17	Homo sapiens	P78536	Anti Bait CoIP	12668732
Intra	DLG1	Q12959	GRIN2C	Homo sapiens	Q14957	P8 Filamentous Phage	30126976
Cross	DLG1	Q12959	E6	Human papillomavirus	P17386	Phage Display	24550280
Intra	DLG1	Q12959	EVI5	Homo sapiens	O60447	P8 Filamentous Phage	30126976
Cross	DLG1	Q12959	US32	Human cytomegalovirus	P09708	Phage Display	24550280

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cleft Lip/Palate

Cleft Lip And Palate	Alveolar Cleft Lip And Palate
Cleft Lip-Alveolus-Palate Syndrome	Flp

Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15	SCAR15
Salih Ataxia	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 15	Spinocerebellar Ataxia, Autosomal Recessive, 15
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Retinitis Pigmentosa 55

RP55	Retinitis Pigmentosa, Type 55

Poliomyelitis

Polio

Infantile Paralysis

Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Microdeletion Syndrome	3q29 Microdeletion Syndrome
3q Subtelomere Deletion Syndrome	3q29 Recurrent Deletion
3qter Deletion	3q29 Deletion Syndrome
Monosomy 3q29	Microdeletion 3q29 Syndrome
Del(3)(Q29)	Monosomy 3qter
3q29 Deletion	Del3q29

Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9

Brugada Syndrome 1

BRGDA1	Sudden Unexplained Nocturnal Death Syndrome
Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome	Sunds
Brugada Syndrome, Type 1	Brugada Syndrome

Cervical Cancer

Cervical Cancer, Somatic	Neoplasm Of Uterine Cervix
Cervix Cancer	Uterine Cervical Neoplasm
Cervical Neoplasm	Cervix Uteri Cancer
Tumor Of The Cervix Uteri	CERCA
Uterine Cervical Cancer	Neoplasms Cervical
Uterine Cervical Neoplasms	Cervical Cancers
Cancer, Cervical, Somatic	Malignant Tumor Of Cervix
Cervix Carcinoma

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2	CMT4B2
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2	Charcot-Marie-Tooth Neuropathy, Type 4b2
Charcot-Marie-Tooth Neuropathy Type 4b2	Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
Cmt 4b2	Charcot Marie Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease 4b2	Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03796	DLG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DLG1	VGNC	VGNC:71918
Rattus norvegicus	DLG1	RGD	RGD:2505
Mus musculus	DLG1	MGD	MGI:107231
Felis catus	DLG1	VGNC	VGNC:61511
Canis familiaris	DLG1	VGNC	VGNC:39977
Bos taurus	DLG1	VGNC	VGNC:53531

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