1. Gene
  2. MAST1 - microtubule associated serine/threonine kinase 1 Gene

MAST1 - microtubule associated serine/threonine kinase 1 Gene

中文名称:微管相关丝氨酸/苏氨酸激酶 1

种属: Homo sapiens

同用名: SAST; MCCCHCM

基因 ID: 22983 | 基因类型: protein coding

关于 MAST1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,838,515-12,874,952 (from NCBI)

This gene has 9 transcripts (splice variants), 299 orthologues, 13 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 10.3), testis (RPKM 1.3) and 1 other tissue.

功能概要

该基因是微管相关丝氨酸/苏氨酸激酶 (MAST) 家族的成员。该基因编码的蛋白质有一个 N 端丝氨酸/苏氨酸激酶结构域,后跟一个突触后密度蛋白 95/discs large/zona occludens-1 (PDZ) 结构域。在小鼠和大鼠中,直系同源蛋白与细胞骨架相关联,并且可以通过其 PDZ 结构域结合 β-2-syntrophin 和神经元一氧化氮合酶 (nNOS) 。在小鼠和大鼠中,这种蛋白质还与中枢神经系统血管内皮细胞中的肌营养不良蛋白和肌营养不良蛋白相关蛋白复合物 (DAPC/UAPC) 共定位。[RefSeq 提供,2017 年 5 月]

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the Cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

MAST1 基因产物(1)

mRNA Protein Name
NM_014975.3 NP_055790.1 microtubule-associated serine/threonine-protein kinase 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
20029029 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
30449657 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

MAST1 蛋白结构

DUF1908

DUF1908: Domain of unknown function (DUF1908) (61 - 336)

Pkinase

Pkinase: Protein kinase domain (376 - 647)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (973 - 1050)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1570 a.a.
蛋白主名 其他名称

microtubule-associated serine/threonine-protein kinase 1

syntrophin associated serine/threonine kinase

MAST1 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
MAST1 Q9Y2H9 EGFR Homo sapiens P00533
Ub Reconstruction
20029029
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
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Cerebellar Hypoplasia
Megalencephaly

Macroencephaly

Macrencephaly

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 MAST1 MGD MGI:1861901
Rattus norvegicus MAST1 RGD RGD:631372
Bos taurus MAST1 VGNC VGNC:31257
Macaca mulatta MAST1 VGNC VGNC:82182
Felis catus MAST1 VGNC VGNC:63393
Canis familiaris MAST1 VGNC VGNC:43032