HPS4

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Hermansky-Pudlak syndrome 4
Identifiers
Symbols HPS4 ; LE
External IDs OMIM606682 MGI2177742 HomoloGene11123 GeneCards: HPS4 Gene
RNA expression pattern
PBB GE HPS4 54037 at tn.png
PBB GE HPS4 218402 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 89781 192232
Ensembl ENSG00000100099 ENSMUSG00000042328
UniProt Q9NQG7 Q99KG7
RefSeq (mRNA) NM_022081 NM_138646
RefSeq (protein) NP_071364 NP_619587
Location (UCSC) Chr 22:
26.84 – 26.88 Mb
Chr 5:
112.34 – 112.38 Mb
PubMed search [1] [2]

Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.[1][2][3]

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.[3]

In melanocytic cells HPS4 gene expression may be regulated by MITF.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4". 
  4. ^ 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. 

External links[edit]

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