HPS3

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Hermansky-Pudlak syndrome 3
Identifiers
Symbols HPS3 ; SUTAL
External IDs OMIM606118 MGI2153839 HomoloGene13019 GeneCards: HPS3 Gene
RNA expression pattern
PBB GE HPS3 gnf1h00765 at tn.png
PBB GE HPS3 gnf1h05859 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 84343 12807
Ensembl ENSG00000163755 ENSMUSG00000027615
UniProt Q969F9 Q91VB4
RefSeq (mRNA) NM_032383 NM_001146323
RefSeq (protein) NP_115759 NP_001139795
Location (UCSC) Chr 3:
148.85 – 148.89 Mb
Chr 3:
20 – 20.04 Mb
PubMed search [1] [2]

Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.[1][2]

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.[2]

External links[edit]


References[edit]

  1. ^ Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR (Jul 2001). "Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico". Nat Genet 28 (4): 376–80. doi:10.1038/ng576. PMID 11455388. 
  2. ^ a b "Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3". 

Further reading[edit]