HPS5

HPS5
Identifiers
Aliases	HPS5 , AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
External IDs	OMIM: 607521; MGI: 2180307; HomoloGene: 35333; GeneCards: HPS5; OMA:HPS5 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p15.1 Start 18,278,668 bp [1] End 18,322,198 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 B3|7 30.56 cM Start 46,409,890 bp [2] End 46,445,488 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve testicle liver corpus callosum tonsil right lobe of liver lymph node Achilles tendon salivary gland minor salivary glands Top expressed in proximal tubule right kidney epithelium of small intestine spermatocyte superior cervical ganglion human kidney granulocyte yolk sac ventricular zone jejunum 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 Species Human Mouse 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 Mb Chr 7: 46.41 – 46.45 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

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. Bibcode:1999FEBSL.445..351W. doi:10.1016/S0014-5793(99)00151-9. PMID   10094488. S2CID   9218762.
7. "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.