HPS5

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

HPS5
Identifiers
AliasesHPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
External IDsOMIM: 607521 MGI: 2180307 HomoloGene: 35333 GeneCards: HPS5
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11p15.1Start18,278,668 bp[1]
End18,322,198 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11234

246694

Ensembl

ENSG00000110756
ENSG00000288445

ENSMUSG00000014418

UniProt

Q9UPZ3

P59438

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 MbChr 7: 46.76 – 46.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ENSG00000288445 GRCh38: Ensembl release 89: ENSG00000110756, ENSG00000288445 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000014418 - Ensembl, 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. 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. S2CID 9218762.
  7. "Entrez Gene: HPS5 Hermansky–Pudlak syndrome 5".

Further reading


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