HPS1

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Hermansky-Pudlak syndrome 1
Identifiers
Symbols HPS1 ; HPS
External IDs OMIM604982 MGI2177763 HomoloGene163 GeneCards: HPS1 Gene
RNA expression pattern
PBB GE HPS1 203309 s at tn.png
PBB GE HPS1 203308 x at tn.png
PBB GE HPS1 210112 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3257 192236
Ensembl ENSG00000107521 ENSMUSG00000025188
UniProt Q92902 O08983
RefSeq (mRNA) NM_000195 NM_019424
RefSeq (protein) NP_000186 NP_062297
Location (UCSC) Chr 10:
100.18 – 100.21 Mb
Chr 19:
42.76 – 42.78 Mb
PubMed search [1] [2]

Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.[1][2][3]

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.[3]

External links[edit]

References[edit]

  1. ^ Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (Feb 1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum Mol Genet 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858. 
  2. ^ Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (Nov 1995). "A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet 57 (4): 755–65. PMC 1801499. PMID 7573033. 
  3. ^ a b "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1". 

Further reading[edit]