HPS1
entrez
3257
canonical
uniprot
Q92902
canonical
ensembl
ENSG00000107521
resolver
ensp
ENSP00000326649
resolver
ensp
ENSP00000343638
resolver
ensp
ENSP00000355310
resolver
ensp
ENSP00000392462
resolver
ensp
ENSP00000514137
resolver
ensp
ENSP00000514147
resolver
ensp
ENSP00000514148
resolver
ensp
ENSP00000514153
resolver
ensp
ENSP00000514156
resolver
ensp
ENSP00000514157
resolver
ensp
ENSP00000514159
resolver
ensp
ENSP00000554365
resolver
ensp
ENSP00000554366
resolver
ensp
ENSP00000554367
resolver
ensp
ENSP00000554371
resolver
ensp
ENSP00000554372
resolver
ensp
ENSP00000647434
resolver
ensp
ENSP00000691742
resolver
ensp
ENSP00000691744
resolver
ensp
ENSP00000691748
resolver
ensp
ENSP00000739971
resolver
ensp
ENSP00000739976
resolver
enst
ENST00000414009
resolver
enst
ENST00000699112
resolver
enst
ENST00000699128
resolver
enst
ENST00000699129
resolver
enst
ENST00000699139
resolver
enst
ENST00000884306
resolver
enst
ENST00000884308
resolver
enst
ENST00000884312
resolver
genesymbol
HPS1
resolver
genesymbol_syn
HPS
resolver
hgnc
HGNC:5163
resolver
uniprot
A0A0S2Z3U1
resolver
uniprot
A0A0S2Z3U9
resolver
uniprot
A0A8V8TMQ9
resolver
uniprot
A0A8V8TN94
resolver
uniprot
A0ACM8R443
resolver
uniprot
A8MRT2
resolver
uniprot
H0Y4K4
resolver
uniprot
O15402
resolver
uniprot
O15502
resolver
uniprot
Q5TAA3
resolver
uniprot
Q8WXE5
resolver
uniprot_entry
A0A0S2Z3U9_HUMAN
resolver
uniprot_entry
A0A8V8TMQ9_HUMAN
resolver
uniprot_entry
A0A8V8TN94_HUMAN
resolver
uniprot_entry
A0ACM8R443_HUMAN
resolver
uniprot_entry
H0Y4K4_HUMAN
resolver
uniprot_entry
HPS1_HUMAN
resolver
uniprot_sec
A0A0S2Z3U1
resolver
uniprot_sec
A8MRT2
resolver
uniprot_sec
O15402
resolver
uniprot_sec
O15502
resolver
uniprot_sec
Q5TAA3
resolver
uniprot_sec
Q8WXE5
resolver
amino_acid_sequence
MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:9497254}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (PubMed:23084991). {ECO:0000269|PubMed:23084991}.
uniprot
proteins
mass_dalton
79292
uniprot
proteins
pubmed
10094567
uniprot
proteins
pubmed
10798370
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20048159
uniprot
proteins
pubmed
23084991
uniprot
proteins
pubmed
8896559
uniprot
proteins
pubmed
9182823
uniprot
proteins
pubmed
9497254
uniprot
proteins
pubmed
9579545
uniprot
proteins
sequence_length
700
uniprot
proteins