P23610
uniprot
P23610
canonical
amino_acid_sequence
MAAAAAGLGGGGAGPGPEAGDFLARYRLVSNKLKKRFLRKPNVAEAGEQFGQLGRELRAQECLPYAAWCQLAVARCQQALFHGPGEALALTEAARLFLRQERDARQRLVCPAAYGEPLQAAASALGAAVRLHLELGQPAAAAALCLELAAALRDLGQPAAAAGHFQRAAQLQLPQLPLAALQALGEAASCQLLARDYTGALAVFTRMQRLAREHGSHPVQSLPPPPPPAPQPGPGATPALPAALLPPNSGSAAPSPAALGAFSDVLVRCEVSRVLLLLLLQPPPAKLLPEHAQTLEKYSWEAFDSHGQESSGQLPEELFLLLQSLVMATHEKDTEAIKSLQVEMWPLLTAEQNHLLHLVLQETISPSGQGV
uniprot
proteins
disease_involvement
DISEASE: Note=Up-regulated in brain tissue from patients affected by Huntington's disease (at protein level) (PubMed:16476778). In a Huntington's disease mouse model overexpression of F8A1/F8A2/F8A3 impairs proteasome activity leading to the accumulation of mutant HTT and causes defective mitochondrial functions (PubMed:27815841, PubMed:29209146). {ECO:0000269|PubMed:16476778, ECO:0000269|PubMed:27815841, ECO:0000269|PubMed:29209146}.
uniprot
proteins
function
FUNCTION: RAB5A effector molecule that is involved in vesicular trafficking of early endosomes (PubMed:16476778). Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT-F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility (PubMed:16476778). {ECO:0000269|PubMed:16476778}.
uniprot
proteins
mass_dalton
39103
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16476778
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
2110545
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27815841
uniprot
proteins
pubmed
29209146
uniprot
proteins
pubmed
29466333
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16476778}. Nucleus {ECO:0000269|PubMed:16476778}. Early endosome {ECO:0000269|PubMed:16476778}. Nucleus, nuclear body {ECO:0000250|UniProtKB:Q00558}. Note=Diffuse presence in the cytoplasm and accumulation in the nucleus (PubMed:16476778). In absence of HTT, F8A1/F8A2/F8A3 is concentred in cytoplasm (By similarity). Colocalized with HTT in endosomes (PubMed:16476778). In neuron found in intranuclear structures, the intranuclear rodlets (INRs), also known as rodlets of Roncoroni, in association with ubiquitin (By similarity). {ECO:0000250|UniProtKB:Q00558, ECO:0000269|PubMed:16476778}.
uniprot
proteins