1. Gene
  2. TPRKB - TP53RK binding protein Gene

TPRKB - TP53RK binding protein Gene

中文名称:TP53RK 结合蛋白

种属: Homo sapiens

同用名: CGI121; GAMOS5; CGI-121

基因 ID: 51002 | 基因类型: protein coding

关于 TPRKB

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:73,729,873-73,737,345 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 8.1), colon (RPKM 6.1) and 25 other tissues.

功能概要

启用蛋白激酶结合活性。参与 tRNA 苏氨酰氨基甲酰腺苷修饰。位于细胞质和细胞核中。 EKC/KEOPS 复合体的一部分。涉及 Galloway-Mowat 综合征 5。[由基因组资源联盟提供,2022 年 4 月]

Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Apr 2022]

TPRKB 基因产物(8)

mRNA Protein Name
NM_001330386.2 NP_001317315.1 EKC/KEOPS complex subunit TPRKB isoform a
NM_001330387.2 NP_001317316.1 EKC/KEOPS complex subunit TPRKB isoform a
NM_001330388.2 NP_001317317.1 EKC/KEOPS complex subunit TPRKB isoform b
NM_001330389.2 NP_001317318.1 EKC/KEOPS complex subunit TPRKB isoform b
NM_001330390.2 NP_001317319.1 EKC/KEOPS complex subunit TPRKB isoform c
NM_001330391.2 NP_001317320.1 EKC/KEOPS complex subunit TPRKB isoform d
NM_001330392.2 NP_001317321.1 EKC/KEOPS complex subunit TPRKB isoform d
NM_016058.5 NP_057142.1 EKC/KEOPS complex subunit TPRKB isoform b
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 binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
12659830 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA threonylcarbamoyladenosine modification IDA
IDA: 通过直接分析推断
28805828 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EKC/KEOPS complex IDA
IDA: 通过直接分析推断
27903914 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
28805828 GOA
located in cytosol IDA
IDA: 通过直接分析推断
12659830 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12659830 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

TPRKB 蛋白结构

CGI-121

CGI-121: Kinase binding protein CGI-121 (20 - 172)

  • 0
  • 100
  • 175 a.a.
蛋白主名 其他名称

EKC/KEOPS complex subunit TPRKB

PRPK (p53-related protein kinase)-binding protein

TPRKB 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
Intra TPRKB Q9Y3C4 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
25416956
Intra TPRKB Q9Y3C4 TRIM27 Homo sapiens P14373
Y2H Array
25416956
Intra TPRKB Q9Y3C4 TP53RK Homo sapiens Q96S44
Y2H Array
31515488
Intra TPRKB Q9Y3C4 TP53RK Homo sapiens Q96S44
Y2H Fragment Pooling
23414517
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
Galloway-Mowat Syndrome 5

GAMOS5

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Galloway-Mowat Syndrome 2
Bladder Calculus

Urinary Bladder Calculi

Urinary Bladder Stone

Bladder Calculi

Bladder Stone

Urinary Bladder Calculus

Vesical Calculi

Vesical Calculus

Vesicolithiasis

Cystolithiasis

Cystic Calculi

Cystic Calculus

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Cerebellar Hypoplasia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Polymicrogyria

Pmg

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 TPRKB VGNC VGNC:79426
Rattus norvegicus TPRKB RGD RGD:1309786
Canis familiaris TPRKB VGNC VGNC:47754
Mus musculus TPRKB MGD MGI:1917036
Bos taurus TPRKB VGNC VGNC:36263