TPRKB - TP53RK binding protein Gene

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

TPRKB Protein Structure

CGI-121

0
100
175 a.a.

Protein Preferred Names

Protein Names

EKC/KEOPS complex subunit TPRKB

PRPK (p53-related protein kinase)-binding protein

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		/	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

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