HPS4
Identifiers
AliasesHPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
External IDsOMIM: 606682 MGI: 2177742 HomoloGene: 11123 GeneCards: HPS4
Orthologs
SpeciesHumanMouse
Entrez

89781

192232

Ensembl

ENSG00000100099

ENSMUSG00000042328

UniProt

Q9NQG7

Q99KG7

RefSeq (mRNA)

NM_138646
NM_001359853

RefSeq (protein)

NP_619587
NP_001346782

Location (UCSC)Chr 22: 26.44 – 26.48 MbChr 5: 112.49 – 112.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.[5][6][7]

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.[7]

In melanocytic cells HPS4 gene expression may be regulated by MITF.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100099 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042328 - Ensembl, 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. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA (Mar 2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID 11836498. S2CID 2470873.
  6. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles". J Biol Chem. 278 (22): 20332–7. doi:10.1074/jbc.M300090200. PMID 12663659.
  7. 1 2 "Entrez Gene: HPS4 Hermansky–Pudlak syndrome 4".
  8. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

Further reading


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