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.

In the Vinony graph

Vinony's link graph records 100 inbound references to HPS1, and connects out to PubMed, human chromosome 10 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 10.

Vinony links it to 5 Wikipedia language editions.

Gene data

HPS1

Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Type: protein-coding
Position: 98,410,939–98,446,966 (−)
Aliases: BLOC3S1, HPS
Ensembl: ENSG00000107521
RefSeq RNA: NM_000195.5, NM_001311345.2, NM_001322476.2, NM_001322477.2, NM_001322478.2
RefSeq protein: NP_000186.2, NP_001298274.1, NP_001309405.1, NP_001309406.1, NP_001309407.1

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].

Gene Ontology

Biological process

lysosome organization vesicle-mediated transport platelet dense granule organization melanosome assembly melanosome assembly melanosome assembly

Molecular function

guanyl-nucleotide exchange factor activity guanyl-nucleotide exchange factor activity protein binding protein dimerization activity

Cellular component

cytoplasm cytoplasm lysosome cytosol BLOC-3 complex BLOC-3 complex cytoplasmic vesicle

Pathways

Membrane Trafficking Vesicle-mediated transport RAB GEFs exchange GTP for GDP on RABs Rab regulation of trafficking IL-18 signaling pathway

via MyGene.info

Gene · Ensembl

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Symbol: HPS1
Biotype: Protein coding
Organism: Homo sapiens
Location: 10:98,410,939-98,446,966
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 163
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/3257
chromosome: human chromosome 10
genomic end: 98446935
genomic start: 100175955
cytogenetic location: 10q24.2
genetic association: Hermansky-Pudlak syndrome

Sources (5)

via Wikidata · CC0

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Encyclopedic overview

3 sections

Contents

References
External links
Further reading

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.

Excerpted from Wikipedia’s “HPS1” article, available under the CC BY-SA 4.0 licence.