HPS5

HPS5
Identifiers
AliasesHPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
External IDsOMIM: 607521; MGI: 2180307; HomoloGene: 35333; GeneCards: HPS5; OMA:HPS5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

11234

246694

Ensembl

ENSG00000110756
ENSG00000288445

ENSMUSG00000014418

UniProt

Q9UPZ3

P59438

RefSeq (mRNA)

NM_007216
NM_181507
NM_181508

NM_001005247
NM_001005248
NM_001167864
NM_178742

RefSeq (protein)

NP_009147
NP_852608
NP_852609

NP_001005247
NP_001005248
NP_001161336

Location (UCSC)Chr 11: 18.28 – 18.32 MbChr 7: 46.41 – 46.45 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky–Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.