2. Gene
  3. TPRKB - TP53RK binding protein Gene

TPRKB - TP53RK binding protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CGI121; GAMOS5; CGI-121

Gene ID: 51002 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
12659830 GOA
Biological Process GO Annotation Evidence Reference Source
involved in tRNA threonylcarbamoyladenosine modification IDA
IDA: Inferred from direct assay
28805828 GOA
Cellular Component GO Annotation Evidence Reference Source
part of EKC/KEOPS complex IDA
IDA: Inferred from direct assay
27903914 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
28805828 GOA
located in cytosol IDA
IDA: Inferred from direct assay
12659830 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12659830 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPRKB Protein Structure

CGI-121

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

  • 0
  • 100
  • 175 a.a.
Protein Preferred Names Protein Names

EKC/KEOPS complex subunit TPRKB

PRPK (p53-related protein kinase)-binding protein

TPRKB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14949 TPRKB Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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