HPS5

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HPS5
Identifiers
Aliases HPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2
External IDs MGI: 2180307 HomoloGene: 35333 GeneCards: HPS5
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for HPS5
Genomic location for HPS5
Band 11p15.1 Start 18,278,668 bp[1]
End 18,322,198 bp[1]
RNA expression pattern
PBB GE HPS5 204544 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007216
NM_181507
NM_181508

NM_001005247
NM_001005248
NM_001167864
NM_178742

RefSeq (protein)

NP_009147
NP_852608
NP_852609

NP_001005247
NP_001005248
NP_001161336

Location (UCSC) Chr 11: 18.28 – 18.32 Mb Chr 11: 46.76 – 46.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.[5][6][7]

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000110756 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014418 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032. 
  6. ^ Wixler V, Laplantine E, Geerts D, Sonnenberg A, Petersohn D, Eckes B, Paulsson M, Aumailley M (Apr 1999). "Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains". FEBS Lett. 445 (2–3): 351–5. doi:10.1016/S0014-5793(99)00151-9. PMID 10094488. 
  7. ^ a b "Entrez Gene: HPS5 Hermansky-Pudlak syndrome 5". 

External links[edit]

Further reading[edit]