HPS5

Also known as AIBP63, BLOC2S2, HPS5, biogenesis of lysosomal organelles complex 2 subunit 2, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

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

Gene data

HPS5

Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Type: protein-coding
Aliases: AIBP63, BLOC2S2

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. [provided by RefSeq, Jul 2008].

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Gene · Ensembl

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Symbol: HPS5
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:18,278,668-18,322,523
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 35333
exact match: identifiers.org/ncbigene/11234
genomic end: 18343745
genomic start: 18300223
cytogenetic location: 11p15.1

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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.