HPS4
Sign in to saveAlso known as LE, BLOC3S2, HPS4, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
In the Vinony graph
Within Vinony's link graph, HPS4 is referenced by 82 other articles, and connects out to PubMed, human chromosome 22 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 22.
Its subject is documented across 5 Wikipedia language editions.
Gene data
HPS4- Name
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Type
- protein-coding
- Position
- 26,442,598–26,483,931 (−)
- Aliases
- BLOC3S2, LE
- Ensembl
- ENSG00000100099
- RefSeq RNA
- NM_001349896.1, NM_001349898.2, NM_001349899.2, NM_001349900.2, NM_001349901.1
- RefSeq protein
- NP_001336825.1, NP_001336827.1, NP_001336828.1, NP_001336829.1, NP_001336830.1
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Symbol
- HPS4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 22:26,442,598-26,483,931
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 11123
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/89781
- genomic end
- 26879803
- genomic start
- 26839389
- expressed in
- anterior pituitary
- chromosome
- human chromosome 22
- cytogenetic location
- 22q12.1
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
Hermansky–Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.
Excerpted from Wikipedia’s “HPS4” article, available under the CC BY-SA 4.0 licence.