HPS5

Protein-coding gene in the species Homo sapiens
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)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for HPS5
Genomic location for HPS5
Band11p15.1Start18,278,668 bp[1]
End18,322,198 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for HPS5
Genomic location for HPS5
Band7 B3|7 30.56 cMStart46,409,890 bp[2]
End46,445,488 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • liver

  • corpus callosum

  • thymus

  • right lobe of liver

  • lymph node

  • Achilles tendon

  • salivary gland

  • minor salivary glands

  • bone marrow cells
Top expressed in
  • proximal tubule

  • spermatocyte

  • superior cervical ganglion

  • kidney

  • yolk sac

  • jejunum

  • hand

  • spermatid

  • secondary oocyte

  • thymus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • BLOC-2 complex
  • cytosol
Biological process
  • pigmentation
  • blood coagulation
  • organelle organization
Sources:Amigo / QuickGO
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: 46.41 – 46.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c ENSG00000288445 GRCh38: Ensembl release 89: ENSG00000110756, ENSG00000288445 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: HPS5 Hermansky–Pudlak syndrome 5".

External links

  • GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Further reading

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Zhang Q, Zhao B, Li W, et al. (2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6". Nat. Genet. 33 (2): 145–53. doi:10.1038/ng1087. PMID 12548288. S2CID 23938527.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (2004). "Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic. 5 (4): 276–83. doi:10.1111/j.1600-0854.2004.0171.x. PMID 15030569. S2CID 20584286.
  • Huizing M, Hess R, Dorward H, et al. (2005). "Cellular, molecular and clinical characterization of patients with Hermansky–Pudlak syndrome type 5". Traffic. 5 (9): 711–22. doi:10.1111/j.1600-0854.2004.00208.x. PMID 15296495. S2CID 35689893.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Helip-Wooley A, Westbroek W, Dorward HM, et al. (2007). "Improper trafficking of melanocyte-specific proteins in Hermansky–Pudlak syndrome type-5". J. Invest. Dermatol. 127 (6): 1471–8. doi:10.1038/sj.jid.5700737. PMC 8369813. PMID 17301833.
  • Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome". Platelets. 18 (2): 150–7. doi:10.1080/13576500600936039. PMID 17365864. S2CID 32161968.


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