HPS5

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.^[5][6][7]

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

Chr.Chromosome 11 (human)^[1]

End18,322,198 bp^[1]

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HPS5
Identifiers
Aliases	HPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
External IDs	OMIM: 607521; MGI: 2180307; HomoloGene: 35333; GeneCards: HPS5; OMA:HPS5 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.1 Start 18,278,668 bp[1] End 18,322,198 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 B3|7 30.56 cM Start 46,409,890 bp[2] End 46,445,488 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve testicle liver corpus callosum tonsil right lobe of liver lymph node Achilles tendon salivary gland minor salivary glands Top expressed in proximal tubule right kidney epithelium of small intestine spermatocyte superior cervical ganglion human kidney granulocyte yolk sac ventricular zone jejunum 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 blood coagulation organelle organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 7: 46.41 – 46.45 Mb PubMed search [3] [4]
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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.^[7]