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Hermansky-Pudlak Syndrome 1 Proteins (HPS1)

HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Additionally we are shipping HPS1 Kits (31) and HPS1 Antibodies (19) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
HPS1 3257 Q92902
HPS1    
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Top HPS1 Proteins at antibodies-online.com

Showing 4 out of 7 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 39 to 44 Days
$9,248.02
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 39 to 44 Days
$9,248.02
Details
HOST_Wheat germ Human GST tag 2 μg Log in to see 9 Days
$333.33
Details
HOST_Human Human Un-conjugated   20 μg Log in to see 9 to 11 Days
$785.40
Details

HPS1 Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
,
Mouse (Murine)

More Proteins for Hermansky-Pudlak Syndrome 1 (HPS1) Interaction Partners

Human Hermansky-Pudlak Syndrome 1 (HPS1) interaction partners

  1. BLOC-3 is a Rab32 (show RAB32 Proteins) and Rab38 (show RAB38 Proteins) guanine nucleotide exchange factor (show RASGRF1 Proteins), with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 (show HPS4 Proteins) results in the mislocalization of Rab32 (show RAB32 Proteins) and Rab38 (show RAB38 Proteins).

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

  3. a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA

  4. Three different mutations in the HPS1 gene were found in the two families.

  5. Data show that recombinant HPS1-HPS4 (show HPS4 Proteins) produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 (show RAB9A Proteins) effector in the biogenesis of lysosome-related organelles.

  6. Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)

  7. Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications.

  8. identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles

  9. observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 (show HPS4 Proteins) proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles

  10. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4 (show HPS4 Proteins).

HPS1 Protein Profile

Protein Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene\; the full-length sequences of some of these have not been determined yet.

Gene names and symbols associated with HPS1

  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 1 (hps1)
  • Hermansky-Pudlak syndrome 1 (Hps1)
  • HPS protein
  • HPS1 protein
  • im:7143944 protein
  • MGC123240 protein
  • zgc:123240 protein

Protein level used designations for HPS1

Hermansky-Pudlak syndrome 1 , Hermansky-Pudlak syndrome 1 protein , DKEYP-34H12.4

GENE ID SPECIES
280819 Bos taurus
429879 Gallus gallus
563067 Danio rerio
100021072 Monodelphis domestica
100070620 Equus caballus
3257 Homo sapiens
100723233 Cavia porcellus
101110375 Ovis aries
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