HPS1 Biogenesis of Lysosomal Organelles Complex 3, Subunit 1

Alternative Names

HPS1
HPS1 Gene
Pale Ear, Mouse, Homolog of

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Length

30,771 bases

No. of isoforms

Protein Name

Hermansky-Pudlak syndrome 1 protein

Molecular Mass

79292 Da

Amino Acid Count

700

Genomic Location

chr10:98,416,192-98,446,962

Gene Map Locus

10q24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000195.4:c.1928G>A	United Arab Emirates	NC_000010.11:g.98418187C>T	Likely Benign, Uncertain Significance	Uncertain Significance		NG_009646.1:g.33761G>A; NM_000195.4:c.1928G>A; NP_000186.2:p.Gly643Glu	148225281	298337
NM_000195.5:c.1273G>A	United Arab Emirates	NC_000010.11:g.98425603C>T		Likely Benign		NG_009646.1:g.26345G>A; NM_000195.5:c.1273G>A; NP_000186.2:p.Val425Met	1157200206

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External Links

https://medlineplus.gov/genetics/gene/hps1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=hps1

Contributors

Pratibha Nair: 15.02.2022

Edit History

Pratibha Nair: 15.02.2022