NP_062297.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
79,853 Da
NCBI Official Full Name
Hermansky-Pudlak syndrome 1 protein homolog isoform 1
NCBI Official Synonym Full Names
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
NCBI Official Synonym Symbols
ep; Hps; Gm21361; BB405864; 6030422N11Rik [Similar Products]
NCBI Protein Information
Hermansky-Pudlak syndrome 1 protein homolog
UniProt Protein Name
Hermansky-Pudlak syndrome 1 protein homolog
UniProt Synonym Gene Names
UniProt Comments for HPS1
HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 19 C3|19 36.56 cM
Cellular Component: cytoplasmic vesicle
Molecular Function: guanyl-nucleotide exchange factor activity; protein dimerization activity
Biological Process: blood coagulation; eye pigmentation; melanocyte differentiation; organelle organization and biogenesis; pigmentation; positive regulation of natural killer cell activation; retina development in camera-type eye; secretion of lysosomal enzymes
Research Articles on HPS1
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Diseases associated with anti-HPS1 antibody
Organs/Tissues associated with anti-HPS1 antibody
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