Hps5
entrez
246694
canonical
uniprot
P59438
canonical
ensembl
ENSMUSG00000014418
resolver
ensp
ENSMUSP00000014562
resolver
ensp
ENSMUSP00000103280
resolver
ensp
ENSMUSP00000103281
resolver
ensp
ENSMUSP00000119876
resolver
enst
ENSMUST00000107653
resolver
genesymbol
Hps5
resolver
genesymbol_syn
Ru2
resolver
uniprot
E9Q3X4
resolver
uniprot
G3X8S7
resolver
uniprot
Q640Q9
resolver
uniprot_entry
E9Q3X4_MOUSE
resolver
uniprot_entry
HPS5_MOUSE
resolver
uniprot_entry
Q640Q9_MOUSE
resolver
uniprot_sec
G3X8S7
resolver
amino_acid_sequence
MTFVPVIPEAYSHVLAEFESLDPLLTALRLDSSRLRCTSIAVSRKWLALGSTGGGLNLIQKDGWKQRLFLSHREGAISQIACCSHDDDYVAVATSQGLVVVWELNQERRGKPERIHVSSEHKGRKVTALCWDTAVLRVFVGDHVGKVSAIKLNTLKQAKAAAAFVMFPVQTVLTVDSCVVQLDYLDGRLLVSSLTRSFLCDTEREKFWKIGNKERHGEYGACFFPGRCAGGQQPVIYCARPGSRMWEVNFDGEVLSTHQFKKLLSMPPLPVITARSEPQYDHTVGSSQSLAFPKLLHLSEHCVLTWTEKGIYIFIPQNVQVLLWSEVKDIQDVAVYKNELFCLHFNGKISHLSLLSVERCVERLLRRGLWDLAARTCCLFQNSIITSRARKTLTADKLEHLKSQLDLTACSELISQLDDLILRFEPLESACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTFSEDERLKEFASHQEEEQPEQGCGANRNEESASHSPVMSEVDKSEAFLPFSIALPFRSPSPLVSLQAVKDSVSSFVRKTTEKIGTLHGSPELKEPFESKDADRAHEEEVSAVTCPLEEDTEEKEIHQPPKEDRLQELTAATAEAMTKLLDPLVLFEPKVLRMVLLEWLSQLEKTFAMKDFPGISNTSSPTVKSNLGAHLLGETEKRVLDEESGEGRRVSLVTEEAGGQITCDPVSNLSEPSADRFRVCSPYAITNSLQRDLAELTTLCLELNVLTSAMESVGGHVDRASQQLSPEILACRFLKKYFFLLDLKRAKESIKLTYDSPCVWDTFVEGLKEMARSNPAYTELEEGDLPTGLQLLDGSVPSDSPLLIAFATRLYDRFGESALRACIKFYPSISPSDIAQLCRHHPAQFLAYLDSLVKSRPEDQWPSFLEFLLQPESLRLEWLLLAVSHDAPPSTSTVDDEGHPRPHSHLLSWGYSQLILLLIKLPADFTTKEKMTDICRSYGFWPGYLTLCLELERRREAFTNIVYLNDISLMEGDNGWIPETLEEWKLLLHLLQTKSTRPAPQESLNGSLSDGPAPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAERRQRALIQGMLEKCDRFLWSQQA
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hps5 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated 'kiss-and-run' fusion at the plasma membrane. {ECO:0000269|PubMed:12548288}.
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:0000250|UniProtKB:Q9UPZ3}.
uniprot
proteins
mass_dalton
126337
uniprot
proteins
protein_family
HPS5 family
uniprot
proteins
pubmed
12548288
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
1126
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9UPZ3}.
uniprot
proteins