HPS4
entrez
89781
canonical
uniprot
Q9NQG7
canonical
ensembl
ENSG00000100099
resolver
ensp
ENSP00000338457
resolver
ensp
ENSP00000381213
resolver
ensp
ENSP00000384185
resolver
ensp
ENSP00000415081
resolver
ensp
ENSP00000514223
resolver
ensp
ENSP00000514224
resolver
ensp
ENSP00000514228
resolver
ensp
ENSP00000514237
resolver
ensp
ENSP00000514238
resolver
ensp
ENSP00000555077
resolver
ensp
ENSP00000555078
resolver
ensp
ENSP00000555079
resolver
ensp
ENSP00000555080
resolver
ensp
ENSP00000648143
resolver
ensp
ENSP00000648144
resolver
ensp
ENSP00000689694
resolver
ensp
ENSP00000748040
resolver
ensp
ENSP00000748044
resolver
ensp
ENSP00000748047
resolver
ensp
ENSP00000748048
resolver
ensp
ENSP00000748049
resolver
ensp
ENSP00000748050
resolver
enst
ENST00000422379
resolver
enst
ENST00000483631
resolver
enst
ENST00000699235
resolver
enst
ENST00000699250
resolver
enst
ENST00000699251
resolver
enst
ENST00000885020
resolver
enst
ENST00000885021
resolver
genesymbol
HPS4
resolver
genesymbol_syn
KIAA1667
resolver
hgnc
HGNC:15844
resolver
uniprot
A0A8V8TMY3
resolver
uniprot
A0A8V8TN06
resolver
uniprot
A0A8V8TPB3
resolver
uniprot
A8K2E6
resolver
uniprot
B1AHQ4
resolver
uniprot
F1LLU8
resolver
uniprot
Q5H8V6
resolver
uniprot
Q6P1K3
resolver
uniprot
Q96LX6
resolver
uniprot
Q9BY93
resolver
uniprot
Q9UH37
resolver
uniprot
Q9UH38
resolver
uniprot_entry
A0A8V8TMY3_HUMAN
resolver
uniprot_entry
A0A8V8TN06_HUMAN
resolver
uniprot_entry
A0A8V8TPB3_HUMAN
resolver
uniprot_entry
A8K2E6_HUMAN
resolver
uniprot_entry
F1LLU8_HUMAN
resolver
uniprot_entry
HPS4_HUMAN
resolver
uniprot_entry
Q6P1K3_HUMAN
resolver
uniprot_sec
B1AHQ4
resolver
uniprot_sec
Q5H8V6
resolver
uniprot_sec
Q96LX6
resolver
uniprot_sec
Q9BY93
resolver
uniprot_sec
Q9UH37
resolver
uniprot_sec
Q9UH38
resolver
amino_acid_sequence
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: 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:11836498}. 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
76919
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11258795
uniprot
proteins
pubmed
11836498
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20048159
uniprot
proteins
pubmed
23084991
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
708
uniprot
proteins