Hps1
entrez
192236
canonical
uniprot
O08983
canonical
ensembl
ENSMUSG00000025188
resolver
ensp
ENSMUSP00000026194
resolver
ensp
ENSMUSP00000071069
resolver
ensp
ENSMUSP00000124209
resolver
ensp
ENSMUSP00000125226
resolver
ensp
ENSMUSP00000125662
resolver
ensp
ENSMUSP00000177788
resolver
ensp
ENSMUSP00000177791
resolver
enst
ENSMUST00000026194
resolver
enst
ENSMUST00000069298
resolver
enst
ENSMUST00000160455
resolver
enst
ENSMUST00000162004
resolver
enst
ENSMUST00000162061
resolver
genesymbol
Hps1
resolver
genesymbol_syn
Ep
resolver
genesymbol_syn
Hps
resolver
uniprot
A0A0R4J062
resolver
uniprot
E9PYL0
resolver
uniprot
E9Q045
resolver
uniprot
F7B6L6
resolver
uniprot
O35155
resolver
uniprot
O35725
resolver
uniprot
O35950
resolver
uniprot
Q3U309
resolver
uniprot_entry
A0A0R4J062_MOUSE
resolver
uniprot_entry
E9PYL0_MOUSE
resolver
uniprot_entry
E9Q045_MOUSE
resolver
uniprot_entry
F7B6L6_MOUSE
resolver
uniprot_entry
HPS1_MOUSE
resolver
uniprot_entry
Q3U309_MOUSE
resolver
uniprot_sec
O35155
resolver
uniprot_sec
O35725
resolver
uniprot_sec
O35950
resolver
amino_acid_sequence
MKCVLVATEGAEVLFYWTDEEFAESLRLKLQQSEDEEEELPVLEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENDNHLYVLHLFGEYLFVAINGDHSESEGDLRRKLCVLKYLFEVHFGLVTVDGQLIRKELRPPDLEERARVWKHFQRLLGTYSYLRDREQSFAVEAVERLIHPQLCEQSIETLERHVVQAINASPERGGEEVLHAFLLVHCKLLAFYSGHGASTLRPADLLALILLVQDLQPSPGTTEEEEEEEDSDSPQRRPKSSQNIPVQQARSQSTSVPTRSSRETDTDSISLPEEYFTPAPSPGDQSSGSLVWLDGGTPPSDALQMAEDTPEGLASHSPELPSPRRIFLDANIKENYCPLVPHTMYCLPLWPGINMVLLTKSPSTPLALILYQLLDGFSLLEKKLKEGQEAGSALRSQPFVADLRQKMDKFIKNRVGQEIQNTWLEFKSKAFSRSEPGSSWELLQVCGKLKRQLCVIYRLSFLVTAPSRGGPHLPQHLQDRAQKLMKERLLDWKDFLLVKSRRNVTMVSYLEDFPGLVHFIYVDRTTGQMVAPSLSPNEKMSSELGKGPLAAFVKAKVWALVRLARRYLQKGCTTLLFQEGDFRCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGVLGGDYYRKLLRYYSKSHPSEPVRCYELLTLHLSVIPTDLLVQQASQLARRLGEASRVTLP
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hps1 are the cause of the pale ear (ep) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets (PubMed:9256466). {ECO:0000269|PubMed:9256466}.
uniprot
proteins
function
FUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38. {ECO:0000250|UniProtKB:Q92902}.
uniprot
proteins
mass_dalton
79853
uniprot
proteins
pubmed
9158155
uniprot
proteins
pubmed
9256466
uniprot
proteins
sequence_length
704
uniprot
proteins