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.

Gene data

HPS3

Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Type: protein-coding
Aliases: BLOC2S1, SUTAL

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].

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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

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via Ensembl · EMBL-EBI

Wikidata facts

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HomoloGene ID: 13019
genomic start: 148847371
exact match: identifiers.org/ncbigene/84343
genomic end: 148891519
cytogenetic location: 3q24

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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.