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 m (NP_001309421.1).

Protein
Protein sequence from Nucleotide coding region
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Ensembl
Order full-length cDNA clone [GeneCopoeia Inc.]
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GeneCopoeia Inc.
UCSC Genome Browser [UCSC Genome Browser]
UCSC Genome Browser
Order HPS1 cDNA clone/Protein/Antibody/RNAi [OriGene]
Order HPS1 cDNA clone/Protein/Antibody/RNAi
OriGene

Related DataSets for GEO Profiles (Select 36703284) (1)
GEO DataSets
Invasive ductal and lobular breast carcinomas
Invasive ductal and lobular breast carcinomas
Accession: GDS2635

GEO DataSets
Concise Conserved Domain Links for Protein (Select 1034638318) (2)
Conserved Domains
Taxonomy Links for Nucleotide (Select 2462557143) (1)
Taxonomy
Concise Conserved Domain Links for Protein (Select 767931480) (3)
Conserved Domains

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Nucleotide