HPS5

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Hermansky-Pudlak syndrome 5
Identifiers
Symbols HPS5 ; AIBP63
External IDs OMIM607521 MGI2180307 HomoloGene35333 GeneCards: HPS5 Gene
RNA expression pattern
PBB GE HPS5 204544 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11234 246694
Ensembl ENSG00000110756 ENSMUSG00000014418
UniProt Q9UPZ3 P59438
RefSeq (mRNA) NM_007216 NM_001005247
RefSeq (protein) NP_009147 NP_001005247
Location (UCSC) Chr 11:
18.3 – 18.34 Mb
Chr 7:
46.76 – 46.8 Mb
PubMed search [1] [2]

Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.[1][2][3]

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.[3]

External links[edit]


References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: HPS5 Hermansky-Pudlak syndrome 5". 

Further reading[edit]