Hermansky-Pudlak Syndrome 5 蛋白 (HPS5)

HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. 再加上,我们可以发HPS5 抗体 (34)HPS5 试剂盒 (13)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
HPS5 11234 Q9UPZ3
大鼠 HPS5 HPS5 308598  
HPS5 246694 P59438
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产品编号 Origin 资源 标记 图像 规格 交付 价格 详细
Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 70 Days
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Insect Cells 小鼠 His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 70 Days
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HEK-293 Cells Myc-DYKDDDDK Tag Validation with Western Blot 20 μg 11 Days
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小麦胚 GST tag 10 μg 11至12个工作日
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HPS5 蛋白 by Origin and Source

Origin 在表达 标记
Human , ,
, ,
Mouse (Murine)

更多Hermansky-Pudlak Syndrome 5 (HPS5)互动伙伴

Human Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  1. This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS.

  2. HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.

  3. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature.

  4. Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.

  5. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.

  6. LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery

  7. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes

Zebrafish Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  1. The snw/hps5I76N mutant provides a valuable resource for structure-function analyses of Hps5 and enables further elucidation of the molecular and cellular mechanisms underlying HPS.

Mouse (Murine) Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  1. Nonsense Mutation in HPS5 gene is associated with hypopigmentation in colitis mice.

  2. Effects of the ru2(d) allele on pheomelanin synthesis were investigated.

  3. These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.

  4. These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.

蛋白简介HPS5

蛋白简介

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.

Gene names and symbols associated with HPS5

  • HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 (HPS5)
  • HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 (Hps5)
  • Hermansky-Pudlak syndrome 5 (hps5)
  • Aa2-028 蛋白
  • Ab1-018 蛋白
  • AI646796 蛋白
  • AIBP63 蛋白
  • AL022647 蛋白
  • C85120 蛋白
  • haze 蛋白
  • hz 蛋白
  • maroon 蛋白
  • mr 蛋白
  • ru-2 蛋白
  • ru2 蛋白
  • zgc:162420 蛋白

Protein level used designations for HPS5

Hermansky-Pudlak syndrome 5 protein , alpha integrin binding protein 63 , alpha-integrin-binding protein 63 , ruby-eye protein 2 homolog , Hermansky-Pudlak syndrome 5 , Hermansky-Pudlak syndrome 5 protein homolog , ruby eye 2 , ruby-eye protein 2

GENE ID SPECIES
11234 Homo sapiens
308598 Rattus norvegicus
423079 Gallus gallus
510165 Bos taurus
100036709 Xenopus (Silurana) tropicalis
100037388 Danio rerio
100049701 Sus scrofa
100446504 Pongo abelii
100549976 Meleagris gallopavo
100616949 Monodelphis domestica
246694 Mus musculus
100716300 Cavia porcellus
101119945 Ovis aries
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