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  2. MPP4 - MAGUK p55 scaffold protein 4 Gene

MPP4 - MAGUK p55 scaffold protein 4 Gene

中文名称:MAGUK p55 支架蛋白 4

种属: Homo sapiens

同用名: DLG6; ALS2CR5

基因 ID: 58538 | 基因类型: protein coding

关于 MPP4

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:201,644,874-201,698,644 (from NCBI)

This gene has 12 transcripts (splice variants), 277 orthologues and 7 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码膜相关鸟苷酸激酶 (MAGUK) 蛋白家族的一个成员,具有 N 末端 PDZ 结构域、中心 Src 同源 3 区域 (SH3) 和 C 末端鸟苷酸激酶样 (GUK) 结构域。该蛋白质定位于视网膜的外界膜,被认为在光感受器极性和特殊细胞间连接的组织中起作用。已经描述了选择性剪接的转录本变体,但尚未确定它们的生物学有效性。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central Src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MPP4 基因产物(1)

mRNA Protein Name
NM_033066.3 NP_149055.2 MAGUK p55 subfamily member 4
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
15914641 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in adherens junction IDA
IDA: 通过直接分析推断
15914641 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
15914641 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

MPP4 蛋白结构

L27

L27: L27 domain (91 - 136)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (159 - 231)

SH3_1

SH3_1: SH3 domain (268 - 304)

Guanylate_kin

Guanylate_kin: Guanylate kinase (427 - 617)

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  • 637 a.a.
蛋白主名 其他名称

MAGUK p55 subfamily member 4

amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein

MPP4 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
MPP4 Q96JB8 CRB1 Homo sapiens P82279
Anti Bait CoIP
15914641
种属内
MPP4 Q96JB8 CRB1 Homo sapiens P82279
Anti Tag CoIP
15914641
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
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Nanophthalmos

Nanophthalmia

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 MPP4 VGNC VGNC:74734
Mus musculus MPP4 MGD MGI:2386681
Rattus norvegicus MPP4 RGD RGD:620016
Bos taurus MPP4 VGNC VGNC:106825
Canis familiaris MPP4 VGNC VGNC:43345
Felis catus MPP4 VGNC VGNC:97516