HPS3

Also known as SUTAL, BLOC2S1, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

In the Vinony graph

Vinony's link graph records 83 inbound references to HPS3, and connects out to PubMed, human chromosome 3 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 3.

Vinony links it to 5 Wikipedia language editions.

Gene data

HPS3

Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Type: protein-coding
Position: 149,129,602–149,173,732 (+)
Aliases: BLOC2S1, SUTAL
Ensembl: ENSG00000163755
RefSeq RNA: NM_001308258.2, NM_032383.5, XM_005247834.5, XM_047449064.1, XM_054348091.1
RefSeq protein: NP_001295187.1, NP_115759.2, XP_005247891.1, XP_047305020.1, XP_054204066.1

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. [provided by RefSeq, Apr 2015].

Gene Ontology

Biological process

pigmentation eye pigmentation platelet dense granule organization melanosome assembly

Molecular function

protein binding

Cellular component

cytoplasm cytoplasm cytoplasm early endosome cytosol BLOC-2 complex BLOC-2 complex

via MyGene.info

Gene · Ensembl

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Symbol: HPS3
Biotype: Protein coding
Organism: Homo sapiens
Location: 3:149,129,602-149,173,732
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 13019
genomic start: 148847371
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/84343
genomic end: 148891519
chromosome: human chromosome 3
cytogenetic location: 3q24
expressed in: islet of Langerhans

Sources (6)

via Wikidata · CC0

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Encyclopedic overview

3 sections

Contents

References
External links
Further reading

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

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.

Excerpted from Wikipedia’s “HPS3” article, available under the CC BY-SA 4.0 licence.