Homo sapiens HPS1 biogenesis of lysosomal organelles complex 3 subunit - Nucleotide

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Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. [Genes (Basel). 2022]
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, et al. Genes (Basel). 2022 Mar 12; 13(3). Epub 2022 Mar 12.
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. [Respir Res. 2021]
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S. Respir Res. 2021 Nov 4; 22(1):284. Epub 2021 Nov 4.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq alternative splicing
See 35 reference mRNA sequence splice variants for the HPS1 gene.
RefSeq protein product
See the reference protein sequence for BLOC-3 complex member HPS1 isoform a (NP_001309406.1).

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Protein sequence from Nucleotide coding region
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Nucleotide