HPS6

HPS6
Identifiers
Aliases	HPS6 , BLOC2S3, biogenesis of lysosomal organelles complex 2 subunit 3, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
External IDs	OMIM: 607522 MGI: 2181763 HomoloGene: 11691 GeneCards: HPS6
Gene location (Human)
Chr.	Chromosome 10 (human)
End	102,068,036 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	45,994,612 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; monocyte; ; pancreatic ductal cell; ; Right adrenal gland; ; epithelium of esophagus; ; vulva; ; blood; ; prefrontal cortex; ; Left adrenal gland; ; body of stomach;
	Top expressed in
	secondary oocyte; ; proximal tubule; ; morula; ; yolk sac; ; lip; ; quadriceps femoris muscle; ; facial motor nucleus; ; adrenal gland; ; kidney; ; spleen;
	More reference expression data
	n/a
Gene ontology
Molecular function	GTP-dependent protein binding ; protein binding ;
Cellular component	cytoplasm ; organelle membrane ; BLOC-2 complex ; endosome ; cytosol ; early endosome membrane ; endoplasmic reticulum ; membrane ; intracellular membrane-bounded organelle ; lysosome ; lysosomal membrane ;
Biological process	protein localization to membrane ; pigmentation ; blood coagulation ; lysosome localization ; organelle organization ; melanocyte differentiation ;
	Sources:Amigo / QuickGO
Orthologs
	79803
	20170
	ENSG00000166189
	ENSMUSG00000074811
	Q86YV9
	Q8BLY7
	NM_024747
	NM_176785
	NP_079023
	NP_789742
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022 • a couple of secsFrom Wikipedia, The Free Encyclopedia

Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.^[5]

Function

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.^[6] HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).^[7]

Clinical significance

Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.^[5]^[8]

Related Research Articles

Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.

Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.

Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.

Pallidin is a protein that in humans is encoded by the PLDN gene.

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

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.

Nucleolar protein 6 is a protein that in humans is encoded by the NOL6 gene.

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

BLOC-3 or biogenesis of lysosome-related organelles complex 3 is a ubiquitously expressed multisubunit protein complex.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000166189 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074811 - 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.
1 2 Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT (February 2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6". Nat. Genet. 33 (2): 145–53. doi:10.1038/ng1087. PMID 12548288. S2CID 23938527.
↑ "Entrez Gene: HPS6 Hermansky–Pudlak syndrome 6".
↑ Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (April 2004). "Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic. 5 (4): 276–83. doi: 10.1111/j.1600-0854.2004.0171.x . PMID 15030569. S2CID 20584286.
↑ Wei ML (February 2006). "Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function". Pigment Cell Res. 19 (1): 19–42. doi: 10.1111/j.1600-0749.2005.00289.x . PMID 16420244.

External links

GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166189 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074811 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12548288-5] 1 2 Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT (February 2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6". Nat. Genet. 33 (2): 145–53. doi:10.1038/ng1087. PMID 12548288. S2CID 23938527.

[entrez-6] "Entrez Gene: HPS6 Hermansky–Pudlak syndrome 6".

[pmid15030569-7] Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (April 2004). "Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic. 5 (4): 276–83. doi: 10.1111/j.1600-0854.2004.0171.x . PMID 15030569. S2CID 20584286.

[pmid16420244-8] Wei ML (February 2006). "Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function". Pigment Cell Res. 19 (1): 19–42. doi: 10.1111/j.1600-0749.2005.00289.x . PMID 16420244.

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