1. Gene
  2. DLG1 - discs large MAGUK scaffold protein 1 Gene

DLG1 - discs large MAGUK scaffold protein 1 Gene

中文名称:圆盘大 MAGUK 支架蛋白 1

种属: Homo sapiens

同用名: hdlg; DLGH1; SAP97; SAP-97

基因 ID: 1739 | 基因类型: protein coding

关于 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.

功能概要

该基因编码正常发育所需的多结构域支架蛋白。这种蛋白质可能在隔膜连接形成、信号转导、细胞增殖、突触发生和淋巴细胞活化中发挥作用。已经观察到大量源自可变剪接和多个替代启动子的使用的转录本变体,包括一些可能特定于大脑和其他组织的剪接变体。上游 uORF 可以调节该基因某些剪接变体的翻译。[RefSeq 提供,2018 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L27 domain binding IPI
IPI: 通过物理相互作用推断
17332497 GOA
enables kinase binding IDA
IDA: 通过直接分析推断
21119615 GOA
enables phosphatase binding IPI
IPI: 通过物理相互作用推断
10646847 GOA
enables potassium channel regulator activity IDA
IDA: 通过直接分析推断
12970345 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8638125 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
12970345 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IDA
IDA: 通过直接分析推断
14699157 GOA
involved in astral microtubule organization IMP
IMP: 通过突变表型推断
20551903 GOA
involved in bicellular tight junction assembly IDA
IDA: 通过直接分析推断
17332497 GOA
involved in cell-cell adhesion IDA
IDA: 通过直接分析推断
14699157 GOA
involved in cortical actin cytoskeleton organization IDA
IDA: 通过直接分析推断
14699157 GOA
involved in cortical microtubule organization IMP
IMP: 通过突变表型推断
20551903 GOA
involved in endothelial cell proliferation IDA
IDA: 通过直接分析推断
14699157 GOA
involved in establishment of centrosome localization IMP
IMP: 通过突变表型推断
20551903 GOA
involved in negative regulation of ERK1 and ERK2 cascade IMP
IMP: 通过突变表型推断
20551903 GOA
involved in negative regulation of G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
10656683 GOA
involved in negative regulation of p38MAPK cascade IMP
IMP: 通过突变表型推断
20551903 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
20551903 GOA
involved in positive regulation of potassium ion transport IDA
IDA: 通过直接分析推断
12970345 GOA
involved in positive regulation of protein localization to plasma membrane IDA
IDA: 通过直接分析推断
12970345 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
17332497 GOA
involved in protein-containing complex localization IMP
IMP: 通过突变表型推断
20551903 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
20551903 GOA
involved in regulation of membrane potential IDA
IDA: 通过直接分析推断
12970345 GOA
NOT involved in regulation of non-canonical NF-kappaB signal transduction IMP
IMP: 通过突变表型推断
20551903 GOA
involved in regulation of protein localization to synapse IDA
IDA: 通过直接分析推断
23676497 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
21615688 GOA
part of MPP7-DLG1-LIN7 complex IDA
IDA: 通过直接分析推断
17237226 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
8922391 GOA
located in bicellular tight junction IDA
IDA: 通过直接分析推断
17332497 GOA
located in cell junction IDA
IDA: 通过直接分析推断
12857860 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
21615688 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17237226 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
21615688 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21615688 GOA
located in immunological synapse IDA
IDA: 通过直接分析推断
20551903 GOA
located in microtubule IDA
IDA: 通过直接分析推断
21615688 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17237226 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21615688 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21849460 GOA
located in synaptic membrane IDA
IDA: 通过直接分析推断
23676497 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DLG1 蛋白结构

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.
蛋白主名 其他名称

disks large homolog 1

dJ1061C18.1.1

DLG1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DLG1 Q12959 VANGL2 Homo sapiens Q9ULK5 30126976
种属内
DLG1 Q12959 MAP2K2 Homo sapiens P36507
Y2H
21615688
种属内
DLG1 Q12959 MAP2K2 Homo sapiens P36507 21615688
种属内
DLG1 Q12959 ARHGEF16 Homo sapiens Q5VV41 30126976
种属内
DLG1 Q12959 ADGRA2 Homo sapiens Q96PE1
Y2H
15021905
种属内
DLG1 Q12959 ADGRA2 Homo sapiens Q96PE1 24550280
种属内
DLG1 Q12959 TANC1 Homo sapiens Q9C0D5 30126976
种属内
DLG1 Q12959 TANC1 Homo sapiens Q9C0D5
MST
30126976
种属间
DLG1 Q12959 E6 Human papillomavirus P06427
SLC
22898364
种属间
DLG1 Q12959 E6 Human papillomavirus P06427 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P03126 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P03126 16103886
种属间
DLG1 Q12959 E6 Human papillomavirus P03126 12444549
种属内
DLG1 Q12959 FAM163B Homo sapiens P0C2L3 24550280
种属内
DLG1 Q12959 FAM163B Homo sapiens P0C2L3 30126976
种属间
DLG1 Q12959 E6 Human papillomavirus P50804 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P24835 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P27228 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P21735 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P54667 24550280
种属间
DLG1 Q12959 E6 Human papillomavirus P06463 12444549
种属间
DLG1 Q12959 E6 Human papillomavirus P06463 24550280
种属内
DLG1 Q12959 PRR5 Homo sapiens P85299 30126976
种属内
DLG1 Q12959 CD1D Homo sapiens P15813 30126976
种属内
DLG1 Q12959 ANO2 Homo sapiens Q9NQ90 30126976
种属内
DLG1 Q12959 CALHM3 Homo sapiens Q86XJ0 30126976
种属内
DLG1 Q12959 GRIN2B Homo sapiens Q13224 30126976
种属内
DLG1 Q12959 NET1 Homo sapiens Q7Z628 30126976
种属内
DLG1 Q12959 NET1 Homo sapiens Q7Z628 24550280
种属内
DLG1 Q12959 HEATR5B Homo sapiens Q9P2D3 30126976
种属内
DLG1 Q12959 FRMPD4 Homo sapiens Q14CM0 30126976
种属内
DLG1 Q12959 ANO9 Homo sapiens A1A5B4 24550280
种属内
DLG1 Q12959 ANO9 Homo sapiens A1A5B4 21525870
种属内
DLG1 Q12959 CYSLTR2 Homo sapiens Q9NS75 24550280
种属内
DLG1 Q12959 CYSLTR2 Homo sapiens Q9NS75 30126976
种属内
DLG1 Q12959 CRHR1 Homo sapiens P34998 30126976
种属内
DLG1 Q12959 KIF1B Homo sapiens O60333-3
Y2H
12097473
种属内
DLG1 Q12959 KIF1B Homo sapiens O60333-3 12097473
种属内
DLG1 Q12959 MAPK12 Homo sapiens P53778 30126976
种属内
DLG1 Q12959 KCNA4 Homo sapiens P22459 24550280
种属内
DLG1 Q12959 GUCY1A2 Homo sapiens P33402 30126976
种属内
DLG1 Q12959 PKP4 Homo sapiens Q99569 30126976
种属内
DLG1 Q12959 CTNND2 Homo sapiens Q9UQB3 30126976
种属内
DLG1 Q12959 CTNND2 Homo sapiens Q9UQB3 24550280
种属内
DLG1 Q12959 APC Homo sapiens P25054 23185543
种属内
DLG1 Q12959 APC Homo sapiens P25054 30126976
种属间
DLG1 Q12959 E6 Human papillomavirus P36799 15507623
种属内
DLG1 Q12959 RALBP1 Homo sapiens Q15311 30126976
种属内
DLG1 Q12959 SLC16A3 Homo sapiens O15427 30126976
种属内
DLG1 Q12959 ADAM17 Homo sapiens P78536
IF
12668732
种属内
DLG1 Q12959 ADAM17 Homo sapiens P78536 12668732
种属内
DLG1 Q12959 ADAM17 Homo sapiens P78536 12668732
种属内
DLG1 Q12959 GRIN2C Homo sapiens Q14957 30126976
种属间
DLG1 Q12959 E6 Human papillomavirus P17386 24550280
种属内
DLG1 Q12959 EVI5 Homo sapiens O60447 30126976
种属间
DLG1 Q12959 US32 Human cytomegalovirus P09708 24550280
种属间: 跨种属相互作用 种属内: 同种属相互作用

DLG1 抗体

目录号 产品名 应用 反应物种
HY-P82986 SAP97 Antibody (YA2731) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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