HPS3

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HPS3
Identifiers
Aliases HPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1
External IDs MGI: 2153839 HomoloGene: 13019 GeneCards: HPS3
Gene location (Human)
Chromosome 3 (human)
Chr. Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for HPS3
Genomic location for HPS3
Band 3q24 Start 149,129,584 bp[1]
End 149,173,732 bp[1]
RNA expression pattern
PBB GE HPS3 gnf1h00765 at fs.png

PBB GE HPS3 gnf1h05859 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
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 Mb Chr 3: 20 – 20.04 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163755 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027615 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 11455388. doi:10.1038/ng576. 
  6. ^ a b "Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3". 

External links[edit]

Further reading[edit]