HPS5

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Hermansky-Pudlak syndrome 5
Identifiers
Symbol(s) HPS5; AIBP63; KIAA1017
External IDs OMIM: 607521 MGI: 2180307 HomoloGene: 35333
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 11234 246694
Ensembl ENSG00000110756 ENSMUSG00000014418
Uniprot Q9UPZ3 Q3TU08
Refseq NM_007216 (mRNA)
NP_009147 (protein)		 NM_001005247 (mRNA)
NP_001005247 (protein)
Location Chr 11: 18.26 - 18.3 Mb Chr 7: 46.63 - 46.66 Mb
Pubmed search [1] [2]

Hermansky-Pudlak syndrome 5, also known as HPS5, is a human gene.[1]

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: HPS5 Hermansky-Pudlak syndrome 5.

[edit] Further reading

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99-106. PMID 12168954. 
  • Wixler V, Laplantine E, Geerts D, et al. (1999). "Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains.". FEBS Lett. 445 (2-3): 351-5. PMID 10094488. 
  • Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (1): 63-70. PMID 10231032. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Zhang Q, Zhao B, Li W, et al. (2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.". Nat. Genet. 33 (2): 145-53. doi:10.1038/ng1087. PMID 12548288. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (2004). "Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.". Traffic 5 (4): 276-83. doi:10.1111/j.1600-0854.2004.0171.x. PMID 15030569. 
  • Huizing M, Hess R, Dorward H, et al. (2005). "Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.". Traffic 5 (9): 711-22. doi:10.1111/j.1600-0854.2004.00208.x. PMID 15296495. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Helip-Wooley A, Westbroek W, Dorward HM, et al. (2007). "Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.". J. Invest. Dermatol. 127 (6): 1471-8. doi:10.1038/sj.jid.5700737. PMID 17301833. 
  • Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.". Platelets 18 (2): 150-7. doi:10.1080/13576500600936039. PMID 17365864. 
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