F8a1
entrez
14070
canonical
uniprot
Q00558
canonical
ensembl
ENSMUSG00000078317
resolver
ensp
ENSMUSP00000100743
resolver
enst
ENSMUST00000105111
resolver
genesymbol
F8a1
resolver
genesymbol_syn
F8a
resolver
genesymbol_syn
Hap40
resolver
uniprot
Q3TLS9
resolver
uniprot
Q9JJQ6
resolver
uniprot_entry
HAP40_MOUSE
resolver
uniprot_sec
Q3TLS9
resolver
uniprot_sec
Q9JJQ6
resolver
amino_acid_sequence
MAAGSASSLGGGAWPGSEAGDFLARYRQVSNKLKKRFLRKPNVAEAGEQFAQLARELRAQECLPYAAWCQLAVARCQQALFHGPGEALALTEAARLFLRQECDARQRLGCPAAYGEPLQAAASALGAAVRLHLELGQPAAAAALCLELAAALRAVGQPAAAAGHFQRAAQLHLPLMPLAALQALGDAASCQLLARDYTGALALFTRMQRLAREHGGHPVQQLELLPQPPSGPQPPLSGPQPRPVLGSTLPLPQPPDHAPGSVAPSPGTLGAFADVLVRCEVSRVLLLLLLQPPPAKLLPEHAQTLEKYSWEAFDGHGQDTSGQLPEELFLLLQSLVMAAQEKDTEGIKKLQVEMWPLLTAEQNHLLHLVLQETISPSGQGV
uniprot
proteins
function
FUNCTION: RAB5A effector molecule that is involved in vesicular trafficking of early endosomes. Mediates the recruitment of HTT by RAB5A onto early endosomes (By similarity). 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:0000250|UniProtKB:P23610, ECO:0000269|PubMed:16476778}.
uniprot
proteins
mass_dalton
40474
uniprot
proteins
mutagenesis
MUTAGEN 34..36; /note="KKR->STS: Not detected in nucleus. Redistributed in cytoplasm."; /evidence="ECO:0000269|PubMed:11035034
uniprot
proteins
pubmed
11035034
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
1639415
uniprot
proteins
pubmed
16476778
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23749422
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11035034, ECO:0000269|PubMed:23749422}. Nucleus {ECO:0000269|PubMed:11035034, ECO:0000269|PubMed:23749422}. Early endosome {ECO:0000250|UniProtKB:P23610}. Nucleus, nuclear body {ECO:0000269|PubMed:23749422}. Note=Diffuse presence in the cytoplasm and accumulation in the nucleus (By similarity). In absence of HTT, F8A1/F8A2/F8A3 is concentred in cytoplasm (PubMed:11035034). Colocalized with HTT in endosomes (By similarity). In neuron found in intranuclear structures, the intranuclear rodlets (INRs), also known as rodlets of Roncoroni, in association with ubiquitin (PubMed:23749422). {ECO:0000250|UniProtKB:P23610, ECO:0000269|PubMed:11035034, ECO:0000269|PubMed:23749422}.
uniprot
proteins