TP53RK - TP53 regulating kinase Gene

Homo sapiens

Also known as PRPK; BUD32; TPRKB; GAMOS4; Nori-2; Nori-2p; dJ101A2; C20orf64

Gene ID: 112858 | Gene type: protein coding

About TP53RK

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,684,365-46,689,444 (from NCBI)

This gene has 2 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 5.4), thyroid (RPKM 5.0) and 25 other tissues.

Summary

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Apr 2022]

TP53RK Products(1)

mRNA	Protein	Name
NM_033550.4	NP_291028.3	EKC/KEOPS complex subunit TP53RK

TP53RK Protein Structure

Kdo

0
100
200
253 a.a.

Protein Preferred Names

Protein Names

EKC/KEOPS complex subunit TP53RK

atypical serine/threonine protein kinase TP53RK

Related Diseases

Diseases

Alias

Galloway-Mowat Syndrome 4

GAMOS4

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

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

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

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Polymicrogyria

Pmg

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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-RS14922	TP53RK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TP53RK	VGNC	VGNC:108069
Rattus norvegicus	TP53RK	RGD	RGD:1591394
Mus musculus	TP53RK	MGD	MGI:1918294
Bos taurus	TP53RK	VGNC	VGNC:36238
Canis familiaris	TP53RK	VGNC	VGNC:47727

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