HPS1

HPS1
Identifiers
AliasesHPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
External IDsOMIM: 604982; MGI: 2177763; HomoloGene: 163; GeneCards: HPS1; OMA:HPS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_019424
NM_001346703
NM_001362410

RefSeq (protein)

NP_001333632
NP_062297
NP_001349339

Location (UCSC)Chr 10: 98.42 – 98.45 MbChr 19: 42.74 – 42.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.[5][6][7]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107521Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025188Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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" (PDF). Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858.
  6. ^ 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.
  7. ^ a b "Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1".

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