HPS3

HPS3
Identifiers
Aliases	HPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
External IDs	OMIM: 606118; MGI: 2153839; HomoloGene: 13019; GeneCards: HPS3; OMA:HPS3 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	149,173,732 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	20,089,479 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; secondary oocyte; ; jejunal mucosa; ; nasal epithelium; ; lymph node; ; duodenum; ; monocyte; ; spleen; ; retinal pigment epithelium; ; islet of Langerhans;
	Top expressed in
	spleen; ; blood; ; lymph node; ; right ventricle; ; stria vascularis; ; kidney; ; carotid body; ; spinal ganglia; ; pineal gland; ; aortic valve;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; BLOC-2 complex; cytosol;
Biological process	pigmentation; organelle organization;
	Sources:Amigo / QuickGO
Orthologs
	84343
	12807
	ENSG00000163755
	ENSMUSG00000027615
	Q969F9
	Q91VB4
	NM_001308258; NM_032383
	NM_001146323; NM_001146324; NM_080634
	NP_001295187; NP_115759
	NP_001139795; NP_001139796; NP_542365
	Wikidata
View/Edit Human	View/Edit Mouse

Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.^[5]^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163755 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027615 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR (Jul 2001). "Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico". Nat Genet. 28 (4): 376–80. doi:10.1038/ng576. PMID 11455388.
^ Cite error: The named reference entrez was invoked but never defined (see the help page).