HPS3

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.^[5][6]

HPS3
Identifiers
Aliases	HPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
External IDs	OMIM: 606118; MGI: 2153839; HomoloGene: 13019; GeneCards: HPS3; OMA:HPS3 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q24 Start 149,129,638 bp[1] End 149,173,732 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 A2|3 6.12 cM Start 20,050,109 bp[2] End 20,089,479 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum secondary oocyte jejunal mucosa nasal epithelium lymph node duodenum monocyte spleen retinal pigment epithelium islet of Langerhans Top expressed in granulocyte spleen blood stroma of bone marrow lymph node tibiofemoral joint mesenteric lymph nodes right kidney neural layer of retina right ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm BLOC-2 complex cytosol Biological process pigmentation organelle organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84343 12807 Ensembl ENSG00000163755 ENSMUSG00000027615 UniProt Q969F9 Q91VB4 RefSeq (mRNA) NM_001308258 NM_032383 NM_001146323 NM_001146324 NM_080634 RefSeq (protein) NP_001295187 NP_115759 NP_001139795 NP_001139796 NP_542365 Location (UCSC) Chr 3: 149.13 – 149.17 Mb Chr 3: 20.05 – 20.09 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.^[6]