Q92902A8MRT2O15402O15502Q5TAA3Q8WXE5HPS1_HUMANBLOC-3 complex member HPS1Hermansky-Pudlak syndrome 1 proteinHPS1HPSHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoPositional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I)VARIANTSOrganization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS I; II AND IV)VARIANTSIdentification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM III)Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.NUCLEOTIDE SEQUENCE [GENOMIC DNA]The DNA sequence and comparative analysis of human chromosome 10.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM III)Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.REVIEW ON HPS1 VARIANTSAssembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.SUBUNITLACK OF INTERACTION WITH RAB9ABLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.FUNCTIONSUBUNITMutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.VARIANT HPS1 ILE-55 DELComponent of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS1 cannot but BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not interact with the GDP-bound form of RAB9A and RAB9B (PubMed:20048159).Q92902Q9NQG7false20Q92902-1IQ92902-2IIQ92902-3IIIQ92902-4IVAdditional isoforms seem to exist.Ubiquitous.Hermansky-Pudlak syndrome 1
HPS1
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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.The disease is caused by variants affecting the gene represented in this entry.Retina International's Scientific NewsletterHPS1 mutationsAlbinismAlternative splicingDisease variantGuanine-nucleotide releasing factorHermansky-Pudlak syndromeReference proteomeRepeatSensory transductionVisionSTIWLEGGTPPEDRRKAGGNNSEDAVGWATPRQRVIDHSYLEDYMKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL
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