TPRKB - TP53RK binding protein Gene

Also Known as CGI121; GAMOS5; CGI-121

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51002

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise Source
involved in tRNA threonylcarbamoyladenosine modification IDA
IDA: Inferred from direct assay
28805828 GOA
Cellular Component GO Annotation Evidence Verweise 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 Verweise
Intra
TPRKB Q9Y3C4 TRIM27 Homo sapiens P14373 25416956
Intra
TPRKB Q9Y3C4 TRIM27 Homo sapiens P14373 25416956
Intra
TPRKB Q9Y3C4 TP53RK Homo sapiens Q96S44 31515488
Intra
TPRKB Q9Y3C4 TP53RK Homo sapiens Q96S44 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

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
Others TPRKB NCBI