HPS1

HPS1
Identifiers
Aliases	HPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
External IDs	OMIM: 604982; MGI: 2177763; HomoloGene: 163; GeneCards: HPS1; OMA:HPS1 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	98,446,935 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	42,768,417 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; stromal cell of endometrium; ; monocyte; ; transverse colon; ; canal of the cervix; ; minor salivary glands; ; right adrenal cortex; ; right coronary artery; ; mucosa of transverse colon; ; right uterine tube;
	Top expressed in
	seminal vesicula; ; epithelium of lens; ; lacrimal gland; ; islet of Langerhans; ; epithelium of stomach; ; granulocyte; ; umbilical cord; ; gastrula; ; salivary gland; ; right kidney;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; protein dimerization activity; guanyl-nucleotide exchange factor activity;
Cellular component	integral component of plasma membrane; BLOC-3 complex; lysosome; cytoplasm; cytosol; cytoplasmic vesicle;
Biological process	lysosome organization; response to stimulus; visual perception; melanosome assembly;
	Sources:Amigo / QuickGO
Orthologs
	3257
	192236
	ENSG00000107521
	ENSMUSG00000025188
	Q92902
	O08983
NM_000195; NM_001311345; NM_182637; NM_182638; NM_182639;
	NM_001322476; NM_001322477; NM_001322478; NM_001322479; NM_001322480; NM_001322481; NM_001322482; NM_001322483; NM_001322484; NM_001322485; NM_001322487; NM_001322489; NM_001322490; NM_001322491; NM_001322492
	NM_019424; NM_001346703; NM_001362410
NP_000186; NP_001298274; NP_001309405; NP_001309406; NP_001309407;
	NP_001309408; NP_001309409; NP_001309410; NP_001309411; NP_001309412; NP_001309413; NP_001309414; NP_001309416; NP_001309418; NP_001309419; NP_001309420; NP_001309421; NP_872577
	NP_001333632; NP_062297; NP_001349339
	Wikidata
View/Edit Human	View/Edit Mouse

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.