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

SIK1 - salt inducible kinase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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

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

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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-101147 YKL-05-099 Inhibitor 99.76% 否
HY-120856 ARN-3236 Inhibitor 98.60% 否
HY-120877 MRT199665 Inhibitor 99.92% 否
HY-139253 MRIA9 Inhibitor 98.34% 否
HY-157442 GLPG3312 Inhibitor 98.25% 否

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
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