PPP1R21
entrez
129285
canonical
uniprot
Q6ZMI0
canonical
ensembl
ENSG00000162869
resolver
ensp
ENSP00000281394
resolver
ensp
ENSP00000294952
resolver
ensp
ENSP00000415696
resolver
ensp
ENSP00000790246
resolver
genesymbol
PPP1R21
resolver
genesymbol_syn
CCDC128
resolver
genesymbol_syn
FERRY2
resolver
genesymbol_syn
KLRAQ1
resolver
hgnc
HGNC:30595
resolver
uniprot
B7ZKY5
resolver
uniprot
B7ZKY7
resolver
uniprot
E1B6W7
resolver
uniprot
Q2TA78
resolver
uniprot
Q6ZMI6
resolver
uniprot
Q8IW83
resolver
uniprot
Q8J029
resolver
uniprot
Q96ES8
resolver
uniprot_entry
PPR21_HUMAN
resolver
uniprot_sec
B7ZKY5
resolver
uniprot_sec
B7ZKY7
resolver
uniprot_sec
E1B6W7
resolver
uniprot_sec
Q2TA78
resolver
uniprot_sec
Q6ZMI6
resolver
uniprot_sec
Q8IW83
resolver
uniprot_sec
Q8J029
resolver
uniprot_sec
Q96ES8
resolver
amino_acid_sequence
MASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALSEPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQNDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFVQDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFLRKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISKHYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRKPLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVSNTAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNISRLQDELTTTKRSYEDQLSMMSDHLCSMNETLSKQREEIDTLKMSSKGNSKKNKSR
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) [MIM:619383]: 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. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia. {ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:29808498, ECO:0000269|PubMed:30520571, ECO:0000269|PubMed:32985083, ECO:0000269|PubMed:37267906, ECO:0000269|PubMed:38356149}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 through direct mRNA-interaction (PubMed:37267905). In the complex, PPP1R21 serves as a binding hub connecting all five complex subunits and mediating the binding to mRNA and early endosomes via RAB5A (PubMed:37267906). Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (Probable) (PubMed:30520571). {ECO:0000269|PubMed:30520571, ECO:0000269|PubMed:37267905, ECO:0000269|PubMed:37267906, ECO:0000305|PubMed:19389623}.
uniprot
proteins
mass_dalton
88314
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19389623
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
28940097
uniprot
proteins
pubmed
29288388
uniprot
proteins
pubmed
29808498
uniprot
proteins
pubmed
30520571
uniprot
proteins
pubmed
32985083
uniprot
proteins
pubmed
37267905
uniprot
proteins
pubmed
37267906
uniprot
proteins
pubmed
38356149
uniprot
proteins
sequence_length
780
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:30520571, ECO:0000269|PubMed:37267905}.
uniprot
proteins