FERRY3
entrez
57102
canonical
uniprot
Q9NQ89
canonical
ensembl
ENSG00000047621
resolver
ensp
ENSP00000261250
resolver
ensp
ENSP00000439996
resolver
ensp
ENSP00000578105
resolver
enst
ENST00000261250
resolver
enst
ENST00000545746
resolver
genesymbol
FERRY3
resolver
genesymbol_syn
C12orf4
resolver
hgnc
HGNC:1184
resolver
uniprot
D3DUQ8
resolver
uniprot
Q6MZH5
resolver
uniprot_entry
FERY3_HUMAN
resolver
uniprot_sec
D3DUQ8
resolver
uniprot_sec
Q6MZH5
resolver
amino_acid_sequence
MKKNRERFCNREREFVYKFKVGSQCLELRVPLKFPVQENASHLHGRLMLLHSLPCFIEKDLKEALTQFIEEESLSDYDRDAEASLAAVKSGEVDLHQLASTWAKAYAETTLEHARPEEPSWDEDFADVYHDLIHSPASETLLNLEHNYFVSISELIGERDVELKKLRERQGIEMEKVMQELGKSLTDQDVNSLAAQHFESQQDLENKWSNELKQSTAIQKQEYQEWVIKLHQDLKNPNNSSLSEEIKVQPSQFRESVEAIGRIYEEQRKLEESFTIHLGAQLKTMHNLRLLRADMLDFCKHKRNHRSGVKLHRLQTALSLYSTSLCGLVLLVDNRINSYSGIKRDFATVCQECTDFHFPRIEEQLEVVQQVVLYARTQRRSKLKESLDSGNQNGGNDDKTKNAERNYLNVLPGEFYITRHSNLSEIHVAFHLCVDDHVKSGNITARDPAIMGLRNILKVCCTHDITTISIPLLLVHDMSEEMTIPWCLRRAELVFKCVKGFMMEMASWDGGISRTVQFLVPQSISEEMFYQLSNMLPQIFRVSSTLTLTSKH
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 66 (MRT66) [MIM:618221]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27311568, ECO:0000269|PubMed:28097321}. 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). 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). Plays a role in mast cell degranulation. {ECO:0000250|UniProtKB:D4A770, ECO:0000269|PubMed:37267905}.
uniprot
proteins
mass_dalton
63801
uniprot
proteins
pubmed
11062477
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
27311568
uniprot
proteins
pubmed
28097321
uniprot
proteins
pubmed
37267905
uniprot
proteins
sequence_length
552
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D4A770}. Early endosome {ECO:0000305|PubMed:37267905}.
uniprot
proteins