HPS1

Also known as HPS, BLOC3S1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

Gene data

HPS1

Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Type: protein-coding
Aliases: BLOC3S1, HPS

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015].

via MyGene.info

Wikidata facts

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HomoloGene ID: 163
exact match: identifiers.org/ncbigene/3257
genomic end: 98446935
genomic start: 100175955
cytogenetic location: 10q24.2

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Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.