HPS5
Sign in to saveAlso 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].
via MyGene.info
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 35333
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/11234
- genomic end
- 18343745
- genomic start
- 18300223
- chromosome
- human chromosome 11
- cytogenetic location
- 11p15.1
- genetic association
- Hermansky-Pudlak syndrome
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
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.
Excerpted from Wikipedia’s “HPS5” article, available under the CC BY-SA 4.0 licence.