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HPS3

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HPS3
Identifiers
AliasesHPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
External IDsOMIM: 606118; MGI: 2153839; HomoloGene: 13019; GeneCards: HPS3; OMA:HPS3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001308258
NM_032383

NM_001146323
NM_001146324
NM_080634

RefSeq (protein)

NP_001295187
NP_115759

NP_001139795
NP_001139796
NP_542365

Location (UCSC)Chr 3: 149.13 – 149.17 MbChr 3: 20.05 – 20.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.[5][6]

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.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163755Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027615Ensembl, 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. ^ 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. S2CID 418425.
  6. ^ a b "Entrez Gene: HPS3 Hermansky–Pudlak syndrome 3".
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Further reading

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