PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

Homo sapiens

Also known as KLRAQ1; CCDC128; NEDHFBA

Gene ID: 129285 | Gene type: protein coding

About PPP1R21

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:48,440,766-48,515,386 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 15.5), kidney (RPKM 15.1) and 25 other tissues.

Summary

Located in early endosome. [provided by Alliance of Genome Resources, Apr 2022]

PPP1R21 Products(3)

mRNA	Protein	Name
NM_001135629.3	NP_001129101.1	protein phosphatase 1 regulatory subunit 21 isoform 1
NM_001193475.2	NP_001180404.1	protein phosphatase 1 regulatory subunit 21 isoform 5
NM_152994.5	NP_694539.1	protein phosphatase 1 regulatory subunit 21 isoform 2

PPP1R21 Protein Structure

KLRAQ

TTKRSYEDQ

0
200
400
600
780 a.a.

Protein Preferred Names

Protein Names

protein phosphatase 1 regulatory subunit 21

KLRAQ motif containing 1

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities

NEDHFBA

Fissured Tongue

Furrowed Tongue	Plicated Tongue
Tongue, Fissured	Congenital Fissure Of Tongue
Congenital Plicated Tongue	Fissure Of Tongue
Fissure Of Tongue, Congenital	Geographic Tongue And Fissured Tongue
Lingua Plicata	Scrotal Tongue

Cerebellar Hypoplasia

Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency	Neuronal Ceroid Lipofuscinosis 10
CLN10	Cathepsin D Deficiency
Congenital Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Cln10 Disease	Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cln10 Disease, Adult	Cln10 Disease, Congenital
Cln10 Disease, Juvenile	Cln10 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient	Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Congenital Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 10
Neuronal Ceroid Lipofuscinosis, Congenital

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-RS10996	PPP1R21 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PPP1R21	VGNC	VGNC:33236
Macaca mulatta	PPP1R21	VGNC	VGNC:76349
Mus musculus	PPP1R21	MGD	MGI:1921075
Rattus norvegicus	PPP1R21	RGD	RGD:1565310
Canis familiaris	PPP1R21	VGNC	VGNC:44889
Felis catus	PPP1R21	VGNC	VGNC:64322

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