1. Gene
  2. TTBK1 - tau tubulin kinase 1 Gene

TTBK1 - tau tubulin kinase 1 Gene

中文名称:tau 微管蛋白激酶 1

种属: Homo sapiens

同用名: BDTK

基因 ID: 84630 | 基因类型: protein coding

关于 TTBK1

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,243,481-43,288,258 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues and 12 paralogues. Biased expression in brain (RPKM 4.4), small intestine (RPKM 0.9) and 4 other tissues.

功能概要

摘要:该基因属于酪蛋白激酶 1 超家族。编码的蛋白质是一种神经元特异性丝氨酸/苏氨酸和酪氨酸激酶,它调节 tau 的磷酸化,tau 是一种与微管组装相关并稳定它们的蛋白质。该基因的遗传变异与阿尔茨海默病有关。[RefSeq 提供,2016 年 7 月]

Summary:This gene belongs to the Casein Kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

TTBK1 基因产物(1)

mRNA Protein Name
NM_032538.3 NP_115927.1 tau-tubulin kinase 1
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 protein serine kinase activity IGI
IGI: 通过遗传相互作用推断
30556160 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
16923168 GOA
enables protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
16923168 GOA
enables tau protein binding IPI
IPI: 通过物理相互作用推断
16923168 GOA
enables tau-protein kinase activity IDA
IDA: 通过直接分析推断
16923168 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in learning or memory IMP
IMP: 通过突变表型推断
19118186 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
19118186 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
19118186 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
16923168 GOA
involved in peptidyl-serine phosphorylation IGI
IGI: 通过遗传相互作用推断
30556160 GOA
involved in peptidyl-threonine phosphorylation IDA
IDA: 通过直接分析推断
16923168 GOA
involved in peptidyl-tyrosine phosphorylation IDA
IDA: 通过直接分析推断
16923168 GOA
involved in positive regulation of cyclin-dependent protein kinase activity IMP
IMP: 通过突变表型推断
19118186 GOA
involved in positive regulation of cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
19118186 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
19118186 GOA
involved in positive regulation of microglial cell activation IMP
IMP: 通过突变表型推断
19118186 GOA
involved in positive regulation of protein polymerization IDA
IDA: 通过直接分析推断
16923168 GOA
involved in protein phosphorylation IMP
IMP: 通过突变表型推断
19118186 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in neuronal cell body IDA
IDA: 通过直接分析推断
16923168 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

TTBK1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (34 - 259)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1321 a.a.
蛋白主名 其他名称

tau-tubulin kinase 1

brain-derived tau kinase

关联疾病

疾病名称 别名
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SCA11

Spinocerebellar Ataxia-11

Ataxia, Spinocerebellar, Type 11

Seckel Syndrome 8

SCKL8

Seckel Syndrome, Type 8

Cutaneous Anthrax

Anthrax, Skin Type

Skin Anthrax

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

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 TTBK1 VGNC VGNC:81597
Bos taurus TTBK1 VGNC VGNC:107004
Mus musculus TTBK1 MGD MGI:2147036
Canis familiaris TTBK1 VGNC VGNC:57237
Rattus norvegicus TTBK1 RGD RGD:1559518
Felis catus TTBK1 VGNC VGNC:97670
Others TTBK1 NCBI