HPS3
entrez
84343
canonical
uniprot
Q969F9
canonical
ensembl
ENSG00000163755
resolver
ensp
ENSP00000296051
resolver
ensp
ENSP00000418230
resolver
ensp
ENSP00000649677
resolver
enst
ENST00000460120
resolver
genesymbol
HPS3
resolver
hgnc
HGNC:15597
resolver
uniprot
A8K6G6
resolver
uniprot
G5E9V4
resolver
uniprot
Q8WTV6
resolver
uniprot
Q96AP1
resolver
uniprot
Q96MR3
resolver
uniprot
Q9H608
resolver
uniprot_entry
G5E9V4_HUMAN
resolver
uniprot_entry
HPS3_HUMAN
resolver
uniprot_sec
A8K6G6
resolver
uniprot_sec
Q8WTV6
resolver
uniprot_sec
Q96AP1
resolver
uniprot_sec
Q96MR3
resolver
uniprot_sec
Q9H608
resolver
amino_acid_sequence
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]: 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:11455388, ECO:0000269|PubMed:11590544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250|UniProtKB:Q91VB4}.
uniprot
proteins
mass_dalton
113736
uniprot
proteins
pubmed
11455388
uniprot
proteins
pubmed
11590544
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030569
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
25189619
uniprot
proteins
sequence_length
1004
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91VB4}. Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}.
uniprot
proteins