1. Gene
  2. CSNK1G1 - casein kinase 1 gamma 1 Gene

CSNK1G1 - casein kinase 1 gamma 1 Gene

中文名称:酪蛋白激酶 1 伽玛 1

种属: Homo sapiens

同用名: CK1gamma1

基因 ID: 53944 | 基因类型: protein coding

关于 CSNK1G1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,165,525-64,356,173 (from NCBI)

This gene has 18 transcripts (splice variants), 302 orthologues, 12 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 6.6), thyroid (RPKM 4.2) and 25 other tissues.

功能概要

该基因编码酪蛋白激酶 I 基因家族的成员。该家族由丝氨酸/苏氨酸激酶组成,可磷酸化酪蛋白等酸性蛋白。编码的激酶通过磷酸化 Claspin 在细胞周期检查点停滞中发挥作用,以响应停滞的复制叉。该基因的突变可能与非综合征性早发性癫痫 (NSEOE) 有关。[RefSeq 提供,2016 年 7 月]

This gene encodes a member of the Casein Kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]

CSNK1G1 基因产物(4)

mRNA Protein Name
NM_001329605.2 NP_001316534.1 casein kinase I isoform gamma-1 isoform 2
NM_001329606.2 NP_001316535.1 casein kinase I isoform gamma-1 isoform 1
NM_001329607.2 NP_001316536.1 casein kinase I isoform gamma-1 isoform 3
NM_022048.5 NP_071331.2 casein kinase I isoform gamma-1 isoform 1
基因本体论
  • 分子功能
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
25416956 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
25500533 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

CSNK1G1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (44 - 289)

CK1gamma_C

CK1gamma_C: Casein kinase 1 gamma C terminal (332 - 392)

  • 0
  • 100
  • 200
  • 300
  • 422 a.a.
蛋白主名 其他名称

casein kinase I isoform gamma-1

CSNK1G1 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
CSNK1G1 Q9HCP0 KRTAP10-7 Homo sapiens P60409 25416956
种属内
CSNK1G1 Q9HCP0 KRTAP10-7 Homo sapiens P60409 25416956
种属内
CSNK1G1 Q9HCP0 CSNK1G3 Homo sapiens Q9Y6M4 33961781
种属内
CSNK1G1 Q9HCP0 CEP76 Homo sapiens Q8TAP6 25416956
种属内
CSNK1G1 Q9HCP0 CSNK1G2 Homo sapiens P78368 32707033
种属内
CSNK1G1 Q9HCP0 CSNK1G2 Homo sapiens P78368 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CSNK1G1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76850 CSNK1G1 Protein, Human (sf9, His-GST) Q9HCP0-1 (M1-K422) ≥95%

关联疾病

疾病名称 别名
Aortic Valve Prolapse
Gm1-Gangliosidosis, Type I

Gm1 Gangliosidosis Type 1

Beta-Galactosidase-1 Deficiency

Infantile Gm1 Gangliosidosis

GM1G1

Gangliosidosis, Generalized Gm1, Type 1

Glb1 Deficiency

Gangliosidosis Generalized Gm1 Type 1

Gangliosidosis, Generalized Gm1, Type I

Gangliosidosis, Generalized Gm1, Infantile Form

Beta Galactosidase Deficiency Type 1

Glb Deficiency Type 1

Gangliosidosis Generalized Gm1 Infantile Form

Norman-Landing Disease

Gm1-Gangliosidosis 1

Gangliosidosis Generalized Gm1 Infantile Type

Gm1-Gangliosidosis Infantile

Gangliosidosis Gm1 Infantile

Gangliosidosis, Gm1, Type I

Gangliosidosis Gm1

Beta-Galactosidase Deficiency

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

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 CSNK1G1 RGD RGD:621404
Felis catus CSNK1G1 VGNC VGNC:80998
Bos taurus CSNK1G1 VGNC VGNC:50095
Macaca mulatta CSNK1G1 VGNC VGNC:81383
Mus musculus CSNK1G1 MGD MGI:2660884
Canis familiaris CSNK1G1 VGNC VGNC:54937
Others CSNK1G1 NCBI