PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

Also Known as KLRAQ1; CCDC128; NEDHFBA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 129285

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA binding IDA
IDA: Inferred from direct assay
37267906 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26496610 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome IDA
IDA: Inferred from direct assay
30520571 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

PPP1R21 Protein Structure

KLRAQ

KLRAQ: Predicted coiled-coil domain-containing protein (11 - 112)

TTKRSYEDQ

TTKRSYEDQ: Predicted coiled-coil domain-containing protein (255 - 771)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
Protein Preferred Names Protein Names

protein phosphatase 1 regulatory subunit 21

  • KLRAQ motif containing 1

PPP1R21 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PPP1R21 Q6ZMI0 CRYZL1 Homo sapiens O95825
H1-H2 MS
37267906
Intra
PPP1R21 Q6ZMI0 CRYZL1 Homo sapiens O95825
Anti Tag CoIP
26496610
Intra
PPP1R21 Q6ZMI0 FERRY3 Homo sapiens Q9NQ89
Anti Tag CoIP
26496610
Intra
PPP1R21 Q6ZMI0 FERRY3 Homo sapiens Q9NQ89
H1-H2 MS
37267906
Intra
PPP1R21 Q6ZMI0 TBCK Homo sapiens Q8TEA7
H1-H2 MS
37267906
Intra
PPP1R21 Q6ZMI0 TBCK Homo sapiens Q8TEA7
Anti Tag CoIP
26496610
Intra
PPP1R21 Q6ZMI0 KLHL24 Homo sapiens Q6TFL4
Anti Tag CoIP
33961781
Intra
PPP1R21 Q6ZMI0 RAB5A Homo sapiens P20339
H1-H2 MS
37267906
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others PPP1R21 NCBI