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  2. NEK3 - NIMA related kinase 3 Gene

NEK3 - NIMA related kinase 3 Gene

中文名称:NIMA 相关激酶 3

种属: Homo sapiens

同用名: HSPK36

基因 ID: 4752 | 基因类型: protein coding

关于 NEK3

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,132,647-52,159,597 (from NCBI)

This gene has 11 transcripts (splice variants), 191 orthologues and 8 paralogues. Broad expression in testis (RPKM 10.8), placenta (RPKM 6.5) and 24 other tissues.

功能概要

该基因编码 NimA (从未在有丝分裂 A 中) 丝氨酸/苏氨酸蛋白激酶家族的成员。编码的蛋白质不同于其他 NimA 家族成员,因为它不受细胞周期调节,主要存在于细胞质中。该激酶被催乳素刺激激活,导致 VAV2 鸟嘌呤核苷酸交换因子、桩蛋白磷酸化和 RAC1 GTP 酶激活。已在人类中鉴定出该基因的两个功能等位基因。参考基因组组装 (GRCh38) 代表一个功能性等位基因,与缺少该外显子的替代功能性等位基因相比,它与蛋白质编码转录本中包含一个额外的编码外显子相关。[RefSeq 提供,2019 年 9 月]

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from Other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by Prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]

NEK3 基因产物(3)

mRNA Protein Name
NM_001146099.1 NP_001139571.1 serine/threonine-protein kinase Nek3 isoform b
NM_002498.3 NP_002489.1 serine/threonine-protein kinase Nek3 isoform a
NM_152720.3 NP_689933.1 serine/threonine-protein kinase Nek3 isoform a
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
15618286 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

NEK3 蛋白结构

Pkinase

Pkinase: Protein kinase domain (26 - 274)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 510 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase Nek3

HSPK 36

NEK3 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
NEK3 P51956 VAV2 Homo sapiens P52735
CoIP
15618286
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
Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

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
Bos taurus NEK3 VGNC VGNC:31994
Rattus norvegicus NEK3 RGD RGD:1307419
Mus musculus NEK3 MGD MGI:1344371
Felis catus NEK3 VGNC VGNC:68457
Macaca mulatta NEK3 VGNC VGNC:75309
Others NEK3 NCBI