1. Gene
  2. SIK1 - salt inducible kinase 1 Gene

SIK1 - salt inducible kinase 1 Gene

中文名称:盐诱导激酶 1

种属: Homo sapiens

同用名: MSK; SIK; DEE30; SIK-1; SIK1B; SNF1LK

基因 ID: 150094 | 基因类型: protein coding

关于 SIK1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,414,483-43,427,131 (from NCBI)

This gene has 6 transcripts (splice variants), 236 orthologues, 17 paralogues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 28.1), liver (RPKM 25.6) and 25 other tissues.

功能概要

该基因编码包含泛素相关 (UBA) 结构域的丝氨酸/苏氨酸蛋白激酶。编码的蛋白质是在保守的信号转导通路中发挥作用的激酶的单磷酸腺苷激活激酶 (AMPK) 亚家族的成员。该基因的突变与早期婴儿癫痫性脑病 30 有关。[RefSeq 提供,2016 年 11 月]

This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]

SIK1 基因产物(2)

mRNA Protein Name
NM_173354.5 NP_775490.2 serine/threonine-protein kinase SIK1
XM_011529474.3 XP_011527776.1 serine/threonine-protein kinase SIK1 isoform X1
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 14-3-3 protein binding IDA
IDA: 通过直接分析推断
18348280 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
14976552 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
14976552 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16306228 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
18348280 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
14976552 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
14976552 GOA
involved in positive regulation of anoikis IMP
IMP: 通过突变表型推断
19622832 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
18348280 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
14976552 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16306228 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16306228 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

SIK1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (27 - 278)

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

serine/threonine-protein kinase SIK1

Probable serine/threonine-protein kinase SIK1B

SNF1-like kinase

Salt-inducible kinase 1B

myocardial SNF1-like kinase

salt-inducible protein kinase 1

serine/threonine-protein kinase SNF1-like kinase 1

serine/threonine-protein kinase SNF1LK

SIK1 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
SIK1 P57059 YWHAZ Homo sapiens P63104
TAP
16306228
种属内
SIK1 P57059 YWHAZ Homo sapiens P63104 32707033
种属内
SIK1 P57059 YWHAE Homo sapiens P62258
TAP
16306228
种属内
SIK1 P57059 YWHAE Homo sapiens P62258 32707033
种属内
SIK1 P57059 YWHAE Homo sapiens P62258 36931259
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
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Developmental And Epileptic Encephalopathy 30

DEE30

Epileptic Encephalopathy, Early Infantile, 30

Eiee30

Developmental And Epileptic Encephalopathy, 30

Early Infantile Epileptic Encephalopathy 30

Encephalopathy, Epileptic, Early Infantile, Type 30

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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
Rattus norvegicus SIK1 RGD RGD:69407
Mus musculus SIK1 MGD MGI:104754