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  2. MPP3 - MAGUK p55 scaffold protein 3 Gene

MPP3 - MAGUK p55 scaffold protein 3 Gene

中文名称:MAGUK p55 支架蛋白 3

种属: Homo sapiens

同用名: DLG3

基因 ID: 4356 | 基因类型: protein coding

关于 MPP3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,800,811-43,833,146 (from NCBI)

This gene has 9 transcripts (splice variants), 275 orthologues and 7 paralogues. Broad expression in heart (RPKM 3.1), lung (RPKM 2.5) and 23 other tissues.

功能概要

该基因产物是称为 MAGUK (膜相关鸟苷酸激酶同系物) 的膜相关蛋白家族的成员。 MAGUK 与细胞骨架相互作用并调节细胞增殖、信号通路和细胞内连接。这种蛋白质包含一个保守序列,称为 SH3 (Src 同源性 3) 基序,在其他几种与细胞骨架相关的蛋白质中发现,并被怀疑在信号转导中发挥重要作用。已经鉴定出可变剪接的转录物变体。实验支持一种转录变体,但它不编码蛋白质。[RefSeq 提供,2008 年 7 月]

This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the Cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (Src homology 3) motif, found in several other proteins that associate with the Cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

MPP3 基因产物(3)

mRNA Protein Name
NM_001330233.2 NP_001317162.1 MAGUK p55 subfamily member 3 isoform 2
NM_001353080.2 NP_001340009.1 MAGUK p55 subfamily member 3 isoform 3
NM_001932.6 NP_001923.2 MAGUK p55 subfamily member 3 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16519681 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
24503895 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

MPP3 蛋白结构

L27

L27: L27 domain (11 - 64)

L27

L27: L27 domain (68 - 121)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (139 - 214)

SH3_2

SH3_2: Variant SH3 domain (230 - 289)

Guanylate_kin

Guanylate_kin: Guanylate kinase (385 - 571)

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  • 500
  • 585 a.a.
蛋白主名 其他名称

MAGUK p55 subfamily member 3

discs, large homolog 3

MPP3 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
Intra MPP3 Q13368 LIN7C Homo sapiens Q9NUP9
Y2H Array
32296183
Intra MPP3 Q13368 LIN7C Homo sapiens Q9NUP9
Validated Y2H
32296183
Intra MPP3 Q13368 LIN7C Homo sapiens Q9NUP9
Y2H Prey Pooling
32296183
Intra MPP3 Q13368 PKNOX1 Homo sapiens P55347
Y2H Prey Pooling
32296183
Intra MPP3 Q13368 PKNOX1 Homo sapiens P55347
Y2H Array
32296183
Intra MPP3 Q13368 ZNF655 Homo sapiens Q8N720
Validated Y2H
32296183
Intra MPP3 Q13368 ZNF655 Homo sapiens Q8N720
Y2H Array
32296183
Intra MPP3 Q13368 ZNF655 Homo sapiens Q8N720
Y2H Prey Pooling
32296183
Intra MPP3 Q13368 LIN7B Homo sapiens Q9HAP6
Validated Y2H
32296183
Intra MPP3 Q13368 LIN7B Homo sapiens Q9HAP6
Y2H Array
32296183
Intra MPP3 Q13368 LIN7B Homo sapiens Q9HAP6
Y2H Prey Pooling
32296183
Intra MPP3 Q13368 BTBD1 Homo sapiens Q9H0C5
Y2H Prey Pooling
32296183
Intra MPP3 Q13368 BTBD1 Homo sapiens Q9H0C5
Validated Y2H
32296183
Intra MPP3 Q13368 BTBD1 Homo sapiens Q9H0C5
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Non-Syndromic X-Linked Intellectual Disability 90

Mrx90

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

Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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 MPP3 VGNC VGNC:74921
Bos taurus MPP3 VGNC VGNC:55850
Rattus norvegicus MPP3 RGD RGD:620015
Mus musculus MPP3 MGD MGI:1328354
Felis catus MPP3 VGNC VGNC:97515
Canis familiaris MPP3 VGNC VGNC:43344