Gene: HPS1
Alternate names for this Gene: BLOC3S1|HPS
Gene 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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.
Gene is located in Chromosome: 10
Location in Chromosome : 10q24.2
Description of this Gene: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Type of Gene: protein-coding
rs281865084 in
HPS1 gene and
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
PMID 26806224 2016 Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.
PMID 20514622 2010 Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
PMID 17365864 2007 Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
PMID 9705234 1998 Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.
PMID 15952982 2005 Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
PMID 9497254 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
rs121908385 in
HPS1 gene and
Hermanski-Pudlak Syndrome
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
PMID 14510955 2003 Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
PMID 16185271 2005 High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
PMID 9497254 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
PMID 8896559 1996 Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
PMID 20662851 2011 Novel mutations in the HPS1 gene among Puerto Rican patients.
rs11189600 in
HPS1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs10883094 in
HPS1 gene and
Serum albumin measurement
PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.