Biology:HPS4
 Generic protein structure example |
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
- ↑ "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat Genet 30 (3): 321–4. Mar 2002. doi:10.1038/ng835. PMID 11836498.
- ↑ "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. May 2003. doi:10.1074/jbc.M300090200. PMID 12663659.
- ↑ 3.0 3.1 "Entrez Gene: HPS4 Hermansky–Pudlak syndrome 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781.
- ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
External links
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.". DNA Res. 8 (1): 1–9. 2001. doi:10.1093/dnares/8.1.1. PMID 11258795.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Reevaluating human gene annotation: a second-generation analysis of chromosome 22.". Genome Res. 13 (1): 27–36. 2003. doi:10.1101/gr.695703. PMID 12529303.
- "Hermansky–Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.". Hum. Genet. 113 (1): 10–7. 2003. doi:10.1007/s00439-003-0933-5. PMID 12664304.
- "BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4.". J. Biol. Chem. 278 (31): 29376–84. 2003. doi:10.1074/jbc.M301294200. PMID 12756248.
- "Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4.". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8770–5. 2003. doi:10.1073/pnas.1532040100. PMID 12847290. Bibcode: 2003PNAS..100.8770N.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome.". Platelets 18 (2): 150–7. 2007. doi:10.1080/13576500600936039. PMID 17365864. https://zenodo.org/record/1234499.
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