HPS4

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HPS4
Identifiers
Aliases HPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2
External IDs MGI: 2177742 HomoloGene: 11123 GeneCards: HPS4
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for HPS4
Genomic location for HPS4
Band 22q12.1 Start 26,443,423 bp[1]
End 26,483,837 bp[1]
RNA expression pattern
PBB GE HPS4 54037 at fs.png

PBB GE HPS4 218402 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138646

RefSeq (protein)

NP_619587

Location (UCSC) Chr 22: 26.44 – 26.48 Mb Chr 22: 112.34 – 112.38 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 
  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[edit]

Further reading[edit]