1. Gene
  2. MAPK8IP3 - mitogen-activated protein kinase 8 interacting protein 3 Gene

MAPK8IP3 - mitogen-activated protein kinase 8 interacting protein 3 Gene

中文名称:丝裂原活化蛋白激酶 8 相互作用蛋白 3

种属: Homo sapiens

同用名: syd; JIP3; SYD2; JIP-3; JSAP1; NEDBA

基因 ID: 23162 | 基因类型: protein coding

关于 MAPK8IP3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,706,195-1,770,351 (from NCBI)

This gene has 19 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 22.4), spleen (RPKM 12.7) and 24 other tissues.

功能概要

由该基因编码的蛋白质与果蝇 syd 基因的产物具有相似性,后者是驱动蛋白 I 与轴突货物功能相互作用所必需的。对小鼠中相似基因的研究表明,这种蛋白质可能与 JNK 信号通路的许多蛋白激酶相互作用并调节其活性,因此在神经元细胞中起支架蛋白的作用。该基因的线虫对应物被发现可能通过整合 JNK 信号和驱动蛋白 1 转运来调节突触小泡转运。已经描述了该基因的几种可变剪接的转录本变体,但尚未确定其中一些变体的全长性质。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of Kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

MAPK8IP3 基因产物(3)

mRNA Protein Name
NM_001040439.2 NP_001035529.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 2
NM_001318852.2 NP_001305781.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 3
NM_015133.5 NP_055948.2 C-Jun-amino-terminal kinase-interacting protein 3 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
27107012 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
33022230 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
33022230 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

MAPK8IP3 蛋白结构

Jnk-SapK_ap_N

Jnk-SapK_ap_N: JNK_SAPK-associated protein-1 (29 - 186)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1336 a.a.
蛋白主名 其他名称

C-Jun-amino-terminal kinase-interacting protein 3

C-jun-amino-terminal kinase interacting protein 3

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities

NEDBA

Neurodevelopmental Disorder With/Without Variable Brain Abnormalities

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1

Polymicrogyria

Pmg

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
Mus musculus MAPK8IP3 MGD MGI:1353598
Macaca mulatta MAPK8IP3 VGNC VGNC:74651
Canis familiaris MAPK8IP3 VGNC VGNC:43003
Felis catus MAPK8IP3 VGNC VGNC:68173
Rattus norvegicus MAPK8IP3 RGD RGD:1563691
Bos taurus MAPK8IP3 VGNC VGNC:31226