DLG1 - discs large MAGUK scaffold protein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1739

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

L27_1: L27_1 (1 - 63)

MAGUK_N_PEST

MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (106 - 223)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (224 - 307)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (320 - 402)

PDZ_assoc

PDZ_assoc: PDZ-associated domain of NMDA receptors (404 - 465)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (467 - 542)

SH3_1

SH3_1: SH3 domain (587 - 643)

Guanylate_kin

Guanylate_kin: Guanylate kinase (714 - 890)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DLG1 Q12959 VANGL2 Homo sapiens Q9ULK5 30126976
Intra
DLG1 Q12959 MAP2K2 Homo sapiens P36507
Y2H
21615688
Intra
DLG1 Q12959 MAP2K2 Homo sapiens P36507 21615688
Intra
DLG1 Q12959 ARHGEF16 Homo sapiens Q5VV41 30126976
Intra
DLG1 Q12959 ADGRA2 Homo sapiens Q96PE1
Y2H
15021905
Intra
DLG1 Q12959 ADGRA2 Homo sapiens Q96PE1 24550280
Intra
DLG1 Q12959 TANC1 Homo sapiens Q9C0D5 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 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P03126 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P03126 16103886
Cross
DLG1 Q12959 E6 Human papillomavirus P03126 12444549
Intra
DLG1 Q12959 FAM163B Homo sapiens P0C2L3 24550280
Intra
DLG1 Q12959 FAM163B Homo sapiens P0C2L3 30126976
Cross
DLG1 Q12959 E6 Human papillomavirus P50804 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P24835 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P27228 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P21735 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P54667 24550280
Cross
DLG1 Q12959 E6 Human papillomavirus P06463 12444549
Cross
DLG1 Q12959 E6 Human papillomavirus P06463 24550280
Intra
DLG1 Q12959 PRR5 Homo sapiens P85299 30126976
Intra
DLG1 Q12959 CD1D Homo sapiens P15813 30126976
Intra
DLG1 Q12959 ANO2 Homo sapiens Q9NQ90 30126976
Intra
DLG1 Q12959 CALHM3 Homo sapiens Q86XJ0 30126976
Intra
DLG1 Q12959 GRIN2B Homo sapiens Q13224 30126976
Intra
DLG1 Q12959 NET1 Homo sapiens Q7Z628 30126976
Intra
DLG1 Q12959 NET1 Homo sapiens Q7Z628 24550280
Intra
DLG1 Q12959 HEATR5B Homo sapiens Q9P2D3 30126976
Intra
DLG1 Q12959 FRMPD4 Homo sapiens Q14CM0 30126976
Intra
DLG1 Q12959 ANO9 Homo sapiens A1A5B4 24550280
Intra
DLG1 Q12959 ANO9 Homo sapiens A1A5B4 21525870
Intra
DLG1 Q12959 CYSLTR2 Homo sapiens Q9NS75 24550280
Intra
DLG1 Q12959 CYSLTR2 Homo sapiens Q9NS75 30126976
Intra
DLG1 Q12959 CRHR1 Homo sapiens P34998 30126976
Intra
DLG1 Q12959 KIF1B Homo sapiens O60333-3
Y2H
12097473
Intra
DLG1 Q12959 KIF1B Homo sapiens O60333-3 12097473
Intra
DLG1 Q12959 MAPK12 Homo sapiens P53778 30126976
Intra
DLG1 Q12959 KCNA4 Homo sapiens P22459 24550280
Intra
DLG1 Q12959 GUCY1A2 Homo sapiens P33402 30126976
Intra
DLG1 Q12959 PKP4 Homo sapiens Q99569 30126976
Intra
DLG1 Q12959 CTNND2 Homo sapiens Q9UQB3 30126976
Intra
DLG1 Q12959 CTNND2 Homo sapiens Q9UQB3 24550280
Intra
DLG1 Q12959 APC Homo sapiens P25054 23185543
Intra
DLG1 Q12959 APC Homo sapiens P25054 30126976
Cross
DLG1 Q12959 E6 Human papillomavirus P36799 15507623
Intra
DLG1 Q12959 RALBP1 Homo sapiens Q15311 30126976
Intra
DLG1 Q12959 SLC16A3 Homo sapiens O15427 30126976
Intra
DLG1 Q12959 ADAM17 Homo sapiens P78536
IF
12668732
Intra
DLG1 Q12959 ADAM17 Homo sapiens P78536 12668732
Intra
DLG1 Q12959 ADAM17 Homo sapiens P78536 12668732
Intra
DLG1 Q12959 GRIN2C Homo sapiens Q14957 30126976
Cross
DLG1 Q12959 E6 Human papillomavirus P17386 24550280
Intra
DLG1 Q12959 EVI5 Homo sapiens O60447 30126976
Cross
DLG1 Q12959 US32 Human cytomegalovirus P09708 24550280
Cross: Cross-species interaction Intra: Intraspecies interaction

DLG1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82986 SAP97 Antibody (YA2731) WB Human, Mouse, Rat

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

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
Others DLG1 NCBI