1. Gene
  2. MASTL - microtubule associated serine/threonine kinase like Gene

MASTL - microtubule associated serine/threonine kinase like Gene

中文名称:微管相关丝氨酸/苏氨酸激酶样

种属: Homo sapiens

同用名: GW; GWL; THC2; MAST-L; GREATWALL

基因 ID: 84930 | 基因类型: protein coding

关于 MASTL

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,154,479-27,187,953 (from NCBI)

This gene has 4 transcripts (splice variants), 208 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 25 other tissues.

功能概要

该基因编码微管相关的丝氨酸/苏氨酸激酶。该位点的突变与常染色体显性遗传性血小板减少症 (也称为血小板减少症 2) 有关。已经针对该基因座描述了选择性剪接的转录物变体。[RefSeq 提供,2010 年 2 月]

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]

MASTL 基因产物(7)

mRNA Protein Name
NM_001172303.3 NP_001165774.1 serine/threonine-protein kinase greatwall isoform 1
NM_001172304.3 NP_001165775.1 serine/threonine-protein kinase greatwall isoform 3
NM_001320756.2 NP_001307685.1 serine/threonine-protein kinase greatwall isoform 4
NM_001320757.2 NP_001307686.1 serine/threonine-protein kinase greatwall isoform 5
NM_001372029.1 NP_001358958.1 serine/threonine-protein kinase greatwall isoform 6
NM_001372030.1 NP_001358959.1 serine/threonine-protein kinase greatwall isoform 7
NM_032844.5 NP_116233.2 serine/threonine-protein kinase greatwall 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 kinase activity IDA
IDA: 通过直接分析推断
20818157 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
20538976 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G2/M transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
20538976 GOA
involved in mitotic cell cycle IMP
IMP: 通过突变表型推断
20538976 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
20818157 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
20538976 GOA
located in cleavage furrow IDA
IDA: 通过直接分析推断
20538976 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20538976 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

MASTL 蛋白结构

Pkinase

Pkinase: Protein kinase domain (36 - 195)

Pkinase

Pkinase: Protein kinase domain (738 - 835)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 879 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase greatwall

greatwall kinase homolog

关联疾病

疾病名称 别名
Autosomal Thrombocytopenia With Normal Platelets
Thrombocytopenia 2

THC2

Thrombocytopenia, Autosomal Dominant, 2

Thrombocytopenia Autosomal Dominant 2

Thrombocytopenia-2

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4

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 MASTL MGD MGI:1914371
Canis familiaris MASTL VGNC VGNC:43036
Rattus norvegicus MASTL RGD RGD:1309186
Bos taurus MASTL VGNC VGNC:31260
Macaca mulatta MASTL VGNC VGNC:97789
Felis catus MASTL VGNC VGNC:63395