HPS4

HPS4
Identifiers
Aliases	HPS4, LE, BLOC3S2, biogenesis of lysosomal organelles complex 3 subunit 2, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
External IDs	OMIM: 606682; MGI: 2177742; HomoloGene: 11123; GeneCards: HPS4; OMA:HPS4 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	26,483,837 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	112,526,280 bp
RNA expression pattern
	Top expressed in
	cerebellar hemisphere; ; right hemisphere of cerebellum; ; skin of leg; ; sural nerve; ; testicle; ; skin of abdomen; ; right testis; ; left testis; ; right uterine tube; ; anterior pituitary;
	Top expressed in
	internal carotid artery; ; external carotid artery; ; motor neuron; ; spermatocyte; ; Rostral migratory stream; ; spermatid; ; crypt of lieberkuhn of small intestine; ; vestibular sensory epithelium; ; retinal pigment epithelium; ; vestibular membrane of cochlear duct;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; protein homodimerization activity; protein dimerization activity; guanyl-nucleotide exchange factor activity;
Cellular component	cytoplasm; melanosome; platelet dense granule; lysosome; BLOC-3 complex; membrane; cytosol; cytoplasmic vesicle;
Biological process	hemostasis; protein targeting; protein stabilization; lysosome organization; blood coagulation; melanocyte differentiation; organelle organization; positive regulation of eye pigmentation; positive regulation of protein targeting to mitochondrion; melanosome assembly; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
	89781
	192232
	ENSG00000100099
	ENSMUSG00000042328
	Q9NQG7
	Q99KG7
NM_022081; NM_152840; NM_152841; NM_152842; NM_152843;
	NM_001349896; NM_001349898; NM_001349899; NM_001349900; NM_001349901; NM_001349902; NM_001349903; NM_001349904; NM_001349905
	NM_138646; NM_001359853
NP_071364; NP_690054; NP_001336825; NP_001336827; NP_001336828;
	NP_001336829; NP_001336830; NP_001336831; NP_001336832; NP_001336833; NP_001336834; NP_071364.4
	NP_619587; NP_001346782
	Wikidata
View/Edit Human	View/Edit Mouse

Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.^[5]^[6]^[7]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100099 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042328 – 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.
^ Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA (Mar 2002). "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID 11836498.
^ Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles". J Biol Chem. 278 (22): 20332–7. doi:10.1074/jbc.M300090200. PMID 12663659.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ "Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4".

External links

GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome

References

External links

Further reading