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

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

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

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