HPS5
entrez
11234
canonical
uniprot
Q9UPZ3
canonical
ensembl
ENSG00000110756
resolver
ensembl
ENSG00000288445
resolver
ensp
ENSP00000265967
resolver
ensp
ENSP00000379552
resolver
ensp
ENSP00000399590
resolver
ensp
ENSP00000538406
resolver
ensp
ENSP00000538407
resolver
ensp
ENSP00000538408
resolver
ensp
ENSP00000613424
resolver
ensp
ENSP00000653483
resolver
ensp
ENSP00000653484
resolver
ensp
ENSP00000722859
resolver
ensp
ENSP00000722861
resolver
genesymbol
HPS5
resolver
genesymbol_syn
AIBP63
resolver
genesymbol_syn
KIAA1017
resolver
hgnc
HGNC:17022
resolver
uniprot
A8K6J8
resolver
uniprot
A8K8S1
resolver
uniprot
D3DQX9
resolver
uniprot
D3DQY0
resolver
uniprot
O95942
resolver
uniprot
Q8N4U0
resolver
uniprot_entry
HPS5_HUMAN
resolver
uniprot_sec
A8K6J8
resolver
uniprot_sec
A8K8S1
resolver
uniprot_sec
D3DQX9
resolver
uniprot_sec
D3DQY0
resolver
uniprot_sec
O95942
resolver
uniprot_sec
Q8N4U0
resolver
amino_acid_sequence
MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQKEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEVTSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDLFQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKSRPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: 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:15296495}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. {ECO:0000269|PubMed:15296495, ECO:0000269|PubMed:17301833}.
uniprot
proteins
mass_dalton
127449
uniprot
proteins
protein_family
HPS5 family
uniprot
proteins
pubmed
10094488
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12548288
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030569
uniprot
proteins
pubmed
15296495
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17301833
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25189619
uniprot
proteins
sequence_length
1129
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}.
uniprot
proteins