Hps4
entrez
192232
canonical
uniprot
Q99KG7
canonical
ensembl
ENSMUSG00000042328
resolver
ensp
ENSMUSP00000047920
resolver
ensp
ENSMUSP00000107978
resolver
ensp
ENSMUSP00000300722
resolver
ensp
ENSMUSP00000300738
resolver
ensp
ENSMUSP00000344088
resolver
enst
ENSMUST00000035279
resolver
enst
ENSMUST00000112359
resolver
genesymbol
Hps4
resolver
genesymbol_syn
Le
resolver
genesymbol_syn
mKIAA1667
resolver
uniprot
Q541V2
resolver
uniprot_entry
HPS4_MOUSE
resolver
uniprot_entry
Q541V2_MOUSE
resolver
amino_acid_sequence
MATTTPPETKSAAWWNYFFLYDGSKVKGEGDPTRAGICYFYPPQTLLDQQELLCGQLAGVVRCLWDLSGTPPMLIRMRNLKFAIRADGDYLWALGCGVEISDASCRQFLDQLIGFFHFYMGPVSLAYKSHPQEELSLQWDTSITQVLRSTSESHRIFNALWNLDRTKVEPLLLLKAALILQTCQRSPHVLAGCILYKGLIVNSQLLPSLTAKVLLHQTVPADQRLPGAGAAPQETGAALPPDVQITSVFLSEEEVASLHEFPVEHETRLQGSSVQYPPWDQSSPTQAEDAWASAAIPEPTPHDGACPSGSGADERLPRLEQECAGPTGLCTTACGQGSGLSSRLQKELCLSREELDSSEMHVSEAQEAFPPLPALGDLETLHSSHSAPTLPEDTAICSCLHPCPLERLPESGRLGQLADLPLTNGQTQVPGTDPLPSSMPVALPPQHPVGVEPSVEPYGNGAQESHSALPRSSRSPDSPGPSPSADRTGFKPSPSGRHAGLVPMNLYTHSVNGLVLSLLAEETLLSDTAAIEEVYHSSLASLNGLEVHLKETLPRDEASLTSSTYNFLHYDRIQSVLSANLPLVTAPQDRRFLQAVNLMHSDFALLPMLYEMTIRNASTAVYACSSPAQETYFQQLAPTARSSGFPNPQDCAFSLAGKAKQKLLKHGVNLL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hps4 are the cause of the light ear (le) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets (PubMed:11836498). {ECO:0000269|PubMed:11836498}.
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:Q9NQG7}.
uniprot
proteins
mass_dalton
72662
uniprot
proteins
pubmed
11836498
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20048159
uniprot
proteins
pubmed
26620560
uniprot
proteins
sequence_length
671
uniprot
proteins