HPS4

From Wikipedia, the free encyclopedia

Hermansky-Pudlak syndrome 4

Identifiers

HPS4; LE; KIAA1667; bK1048E9.4; bK1048E9.5

External IDs

OMIM: 606682 MGI: 2177742 HomoloGene: 11123

Gene ontology
Molecular Function:	• protein homodimerization activity
Cellular Component:	• membrane fraction • cytoplasm • lysosome • cytoplasmic membrane-bound vesicle • melanosome • platelet dense granule
Biological Process:	• protein targeting • organelle organization and biogenesis • lysosome organization and biogenesis • hemostasis • melanocyte differentiation • positive regulation of eye pigmentation • positive regulation of cuticle pigmentation • protein stabilization

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_022081 (mRNA)
NP_071364 (protein)

NM_138646 (mRNA)
NP_619587 (protein)

Location

Chr 22: 25.18 - 25.21 Mb

Chr 5: 112.58 - 112.62 Mb

Pubmed search

[1]

[2]

Hermansky-Pudlak syndrome 4, also known as HPS4, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4.

[edit] Further reading

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
Hirosawa M, Nagase T, Murahashi Y, et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.". DNA Res. 8 (1): 1–9. PMID 11258795.
Suzuki T, Li W, Zhang Q, et al. (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.
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.
Collins JE, Goward ME, Cole CG, et al. (2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22.". Genome Res. 13 (1): 27–36. doi:10.1101/gr.695703. PMID 12529303.
Chiang PW, Oiso N, Gautam R, et al. (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.
Anderson PD, Huizing M, Claassen DA, et al. (2003). "Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.". Hum. Genet. 113 (1): 10–7. doi:10.1007/s00439-003-0933-5. PMID 12664304.
Martina JA, Moriyama K, Bonifacino JS (2003). "BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.". J. Biol. Chem. 278 (31): 29376–84. doi:10.1074/jbc.M301294200. PMID 12756248.
Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003). "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. doi:10.1073/pnas.1532040100. PMID 12847290.
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.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
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.
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.