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Q92902 Proteins with [DE]-X(4)-L-L Repeats
Uniprot ID: Q92902
Protein name : Hermansky-Pudlak syndrome 1 protein
Gene : HPS1 HPS
Protein Families :
Squence Length : 700
Sequence
>Q92902 701 MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL
Repeat regions
REPEAT 45 51 [DE]-X(4)-L-L 1 REPEAT 147 153 [DE]-X(4)-L-L 2 REPEAT 516 522 [DE]-X(4)-L-L 3 REPEAT 644 650 [DE]-X(4)-L-L 4
Sequence region of repeats
45- 51 LSTLLAP 147- 153 FQSLLWT 516- 522 KDFLLVK 644- 650 YRKLLRY
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 (PubMed:23084991)"
Motifs
MOTIF 698 700 Melanosome targeting signal
Disease
"DISEASE: Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS Note=The disease is caused by mutations affecting the gene represented in this entry"