Protein phosphatase 1 regulatory subunit 21

Gene:

PPP1R21 Disease Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities: An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, hypotonia, coarse facial features, and muscle weakness, often resulting in the inability to walk or sit. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus... [click for more]

Organism:

Homo sapiens (Human)

Synonyms:

CCDC128, FERRY2, KLRAQ1

Uniprot:

Q6ZMI0go to UniProt

Biological function:

Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes ... [show more]go to UniProt

Representative structure for UniProt Q6ZMI0

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PDB 7nd2 chain A (observed residues)
PDB 7nd2 chain A (observed residues)
PDB 7nd2 chain A (observed residues)
PDB 7nd2 chain A (observed residues)

PDB chain shown: 7nd2 A go to PDBe

UniProt residues 1 - 780

Coverage: 42%

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1
Structures

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3
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153
Similarity

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19
Publications

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