Symbol: Name: ID: |
HPS5 Hermansky-Pudlak syndrome 5 GFS:6114 |
Gene name: | HPS5 |
Chromosome: | 11p14 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2180307 | Rat Genome Database ID: | |
HGNC ID: | HGNC:17022 | RefSeq IDs: | NM_007216 |
Entrez Gene ID: | 11234 | Ensembl Gene ID: | ENSG00000110756 |
VEGA IDs: | UniProt ID: | Q9UPZ3 | |
UCSC ID: | uc001mod.1 | OMIM ID: | 607521 |
Pubmed: | PMID10231032 PMID 10094488 | ||
CCDS IDs: | CCDSCCDS7836.1 CCDS CCDS7837.1 |
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. [provided by RefSeq, Jul 2008].
Function: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.
Products for HPS5 gene
Catalog | Product Name | Application | Company |
GFS:E06114 | Hermansky-Pudlak syndrome 5; ELISA kit | ELISA | n/a |
GFS:A06114 | Hermansky-Pudlak syndrome 5; Anti | ANTIBODIES | n/a |
GFS:P06114 | Hermansky-Pudlak syndrome 5; Protien | Protien | n/a |