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{{Infobox_gene}}
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'''Hermansky-Pudlak syndrome 4 protein''' is a [[protein]] that in humans is encoded by the ''HPS4'' [[gene]].<ref name="pmid11836498">{{cite journal |vauthors=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 | title = Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene | journal = Nat Genet | volume = 30 | issue = 3 | pages = 321–4 |date=Mar 2002 | pmid = 11836498 | pmc =  | doi = 10.1038/ng835 }}</ref><ref name="pmid12663659">{{cite journal |vauthors=Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA | title = 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 | journal = J Biol Chem | volume = 278 | issue = 22 | pages = 20332–7 |date=May 2003 | pmid = 12663659 | pmc =  | doi = 10.1074/jbc.M300090200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Hermansky-Pudlak syndrome 4
| HGNCid = 15844
| Symbol = HPS4
| AltSymbols =; LE; KIAA1667; bK1048E9.4; bK1048E9.5
| OMIM = 606682
| ECnumber =
| Homologene = 11123
| MGIid = 2177742
| GeneAtlas_image1 = PBB_GE_HPS4_54037_at_tn.png
  | GeneAtlas_image2 = PBB_GE_HPS4_218402_s_at_tn.png
| Function = {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}}  
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0016023 |text = cytoplasmic membrane-bound vesicle}} {{GNF_GO|id=GO:0042470 |text = melanosome}} {{GNF_GO|id=GO:0042827 |text = platelet dense granule}}
| Process = {{GNF_GO|id=GO:0006605 |text = protein targeting}} {{GNF_GO|id=GO:0006996 |text = organelle organization and biogenesis}} {{GNF_GO|id=GO:0007040 |text = lysosome organization and biogenesis}} {{GNF_GO|id=GO:0007599 |text = hemostasis}} {{GNF_GO|id=GO:0030318 |text = melanocyte differentiation}} {{GNF_GO|id=GO:0048075 |text = positive regulation of eye pigmentation}} {{GNF_GO|id=GO:0048081 |text = positive regulation of cuticle pigmentation}} {{GNF_GO|id=GO:0050821 |text = protein stabilization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 89781
    | Hs_Ensembl = ENSG00000100099
    | Hs_RefseqProtein = NP_071364
    | Hs_RefseqmRNA = NM_022081
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 25177446
    | Hs_GenLoc_end = 25209820
    | Hs_Uniprot = Q9NQG7
    | Mm_EntrezGene = 192232
    | Mm_Ensembl = ENSMUSG00000042328
    | Mm_RefseqmRNA = NM_138646
    | Mm_RefseqProtein = NP_619587
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 112583398
    | Mm_GenLoc_end = 112618715
    | Mm_Uniprot = Q3TAF8
  }}
}}
'''Hermansky-Pudlak syndrome 4''', also known as '''HPS4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez"/>
 
In melanocytic cells HPS4 gene expression may be regulated by [[Microphthalmia-associated transcription factor|MITF]].<ref name="pmid19067971">{{cite journal  |vauthors=Hoek KS, Schlegel NC, Eichhoff OM, etal | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps  GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal | author=Dunham I, Shimizu N, Roe BA, ''et al.'' |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489-95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 }}
*{{cite journal   |vauthors=Dunham I, Shimizu N, Roe BA, etal |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 }}
*{{cite journal | author=Hirosawa M, Nagase T, Murahashi Y, ''et al.'' |title=Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. |journal=DNA Res. |volume=8 |issue= 1 |pages= 1-9 |year= 2001 |pmid= 11258795 |doi= }}
*{{cite journal   |vauthors=Hirosawa M, Nagase T, Murahashi Y, etal |title=Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. |journal=DNA Res. |volume=8 |issue= 1 |pages= 1–9 |year= 2001 |pmid= 11258795 |doi=10.1093/dnares/8.1.1  }}
*{{cite journal  | author=Suzuki T, Li W, Zhang Q, ''et al.'' |title=Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 321-4 |year= 2002 |pmid= 11836498 |doi= 10.1038/ng835 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Collins JE, Goward ME, Cole CG, etal |title=Reevaluating human gene annotation: a second-generation analysis of chromosome 22. |journal=Genome Res. |volume=13 |issue= 1 |pages= 27–36 |year= 2003 |pmid= 12529303 |doi= 10.1101/gr.695703  | pmc=430954 }}
*{{cite journal | author=Collins JE, Goward ME, Cole CG, ''et al.'' |title=Reevaluating human gene annotation: a second-generation analysis of chromosome 22. |journal=Genome Res. |volume=13 |issue= 1 |pages= 27-36 |year= 2003 |pmid= 12529303 |doi= 10.1101/gr.695703 }}
*{{cite journal   |vauthors=Anderson PD, Huizing M, Claassen DA, etal |title=Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. |journal=Hum. Genet. |volume=113 |issue= 1 |pages= 10–7 |year= 2003 |pmid= 12664304 |doi= 10.1007/s00439-003-0933-5 }}
*{{cite journal | author=Chiang PW, Oiso N, Gautam R, ''et al.'' |title=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. |journal=J. Biol. Chem. |volume=278 |issue= 22 |pages= 20332-7 |year= 2003 |pmid= 12663659 |doi= 10.1074/jbc.M300090200 }}
*{{cite journal  |vauthors=Martina JA, Moriyama K, Bonifacino JS |title=BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 29376–84 |year= 2003 |pmid= 12756248 |doi= 10.1074/jbc.M301294200 }}
*{{cite journal | author=Anderson PD, Huizing M, Claassen DA, ''et al.'' |title=Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. |journal=Hum. Genet. |volume=113 |issue= 1 |pages= 10-7 |year= 2003 |pmid= 12664304 |doi= 10.1007/s00439-003-0933-5 }}
*{{cite journal  |vauthors=Nazarian R, Falcón-Pérez JM, Dell'Angelica EC |title=Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 15 |pages= 8770–5 |year= 2003 |pmid= 12847290 |doi= 10.1073/pnas.1532040100 | pmc=166388 }}
*{{cite journal  | author=Martina JA, Moriyama K, Bonifacino JS |title=BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 29376-84 |year= 2003 |pmid= 12756248 |doi= 10.1074/jbc.M301294200 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Nazarian R, Falcón-Pérez JM, Dell'Angelica EC |title=Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 15 |pages= 8770-5 |year= 2003 |pmid= 12847290 |doi= 10.1073/pnas.1532040100 }}
*{{cite journal   |vauthors=Collins JE, Wright CL, Edwards CA, etal |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 | pmc=545604 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Collins JE, Wright CL, Edwards CA, ''et al.'' |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 }}
*{{cite journal   |vauthors=Huizing M, Parkes JM, Helip-Wooley A, etal |title=Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. |journal=Platelets |volume=18 |issue= 2 |pages= 150–7 |year= 2007 |pmid= 17365864 |doi= 10.1080/13576500600936039 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Huizing M, Parkes JM, Helip-Wooley A, ''et al.'' |title=Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. |journal=Platelets |volume=18 |issue= 2 |pages= 150-7 |year= 2007 |pmid= 17365864 |doi= 10.1080/13576500600936039 }}
}}
}}
{{refend}}
{{refend}}
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Latest revision as of 14:03, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  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. ↑ 3.0 3.1 "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

Further reading



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