HPS4

Protein-coding gene in the species Homo sapiens
HPS4
Identifiers
AliasesHPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
External IDsOMIM: 606682; MGI: 2177742; HomoloGene: 11123; GeneCards: HPS4; OMA:HPS4 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for HPS4
Genomic location for HPS4
Band22q12.1Start26,443,423 bp[1]
End26,483,837 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for HPS4
Genomic location for HPS4
Band5 F|5 54.69 cMStart112,490,949 bp[2]
End112,526,280 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • skin of leg

  • sural nerve

  • testicle

  • skin of abdomen

  • right testis

  • left testis

  • right uterine tube

  • anterior pituitary
Top expressed in
  • internal carotid artery

  • external carotid artery

  • motor neuron

  • spermatocyte

  • Rostral migratory stream

  • spermatid

  • crypt of lieberkuhn of small intestine

  • vestibular sensory epithelium

  • retinal pigment epithelium

  • vestibular membrane of cochlear duct
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • protein binding
  • protein homodimerization activity
  • protein dimerization activity
  • guanyl-nucleotide exchange factor activity
Cellular component
  • cytoplasm
  • melanosome
  • platelet dense granule
  • lysosome
  • BLOC-3 complex
  • membrane
  • cytosol
  • cytoplasmic vesicle
Biological process
  • hemostasis
  • protein targeting
  • protein stabilization
  • lysosome organization
  • blood coagulation
  • melanocyte differentiation
  • organelle organization
  • positive regulation of eye pigmentation
  • positive regulation of protein targeting to mitochondrion
  • melanosome assembly
  • regulation of molecular function
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

89781

192232

Ensembl

ENSG00000100099

ENSMUSG00000042328

UniProt

Q9NQG7

Q99KG7

RefSeq (mRNA)
NM_022081
NM_152840
NM_152841
NM_152842
NM_152843

NM_001349896
NM_001349898
NM_001349899
NM_001349900
NM_001349901
NM_001349902
NM_001349903
NM_001349904
NM_001349905

NM_138646
NM_001359853

RefSeq (protein)
NP_071364
NP_690054
NP_001336825
NP_001336827
NP_001336828

NP_001336829
NP_001336830
NP_001336831
NP_001336832
NP_001336833
NP_001336834
NP_071364.4

NP_619587
NP_001346782

Location (UCSC)Chr 22: 26.44 – 26.48 MbChr 5: 112.49 – 112.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.[5][6][7]

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.[7]

In melanocytic cells HPS4 gene expression may be regulated by MITF.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100099 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042328 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 2470873.
  6. ^ 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.
  7. ^ a b "Entrez Gene: HPS4 Hermansky–Pudlak syndrome 4".
  8. ^ 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

  • GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Further reading

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. 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. doi:10.1093/dnares/8.1.1. PMID 11258795.
  • 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 430954. PMID 12529303.
  • 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. S2CID 21758434.
  • 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. Bibcode:2003PNAS..100.8770N. doi:10.1073/pnas.1532040100. PMC 166388. 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. PMC 545604. 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. PMC 528928. 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. S2CID 32161968.


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