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Adaptor-related protein complex 3, beta 1 subunit

HPS, HPS1
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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, ACID, V1a, AGE
Papers using HPS antibodies
Digimouse: A 3D whole body mouse atlas from CT and cryosection data.
Supplier
Cai Huaibin, In PLoS ONE, 2006
... ) were crossed with hPS1 (A246E) transgenic mice ...
Papers on HPS
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
New
Ehl et al., Freiburg, Germany. In Blood, Feb 2016
HPS-2 caused by mutations in AP3B1A leads to a highly overlapping phenotype without the neurological symptoms.
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type - 1 induced defective autophagy in vitro.
New
Mahavadi et al., Marburg an der Lahn, Germany. In Am J Physiol Lung Cell Mol Physiol, Jan 2016
UNASSIGNED: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder and some HPS patients develop pulmonary fibrosis known as HPS associated interstitial pneumonia (HPSIP).
Affective regulation in trichotillomania before and after self-help interventions.
New
Rufer et al., Zürich, Switzerland. In J Psychiatr Res, Jan 2016
Affective Regulation Scale (ARS), Massachusetts General Hospital Hair-Pulling Scale (MGH-HPS), and Beck Depression Inventory (BDI) scores were obtained at baseline, post-treatment (4 weeks), and follow-up (6 months).
CpG-ODN exacerbates hemophagocytosis by inducing TNF-α production in mice following bone marrow transplantation.
New
Sawada et al., Akita, Japan. In Biol Blood Marrow Transplant, Jan 2016
UNASSIGNED: Hemophagocytic syndrome (HPS) frequently associates with hematopoietic stem cell transplantation (HSCT) and is treated with some benefit being derived from tumor necrosis factor (TNF)-α inhibitors.
The extended human PTPome: A growing tyrosine phosphatase family.
Review
New
Pulido et al., Valladolid, Spain. In Febs J, Dec 2015
A Cys residue is essential for catalysis in PTPs, Rhodanese, and Arsenate Reductase enzymes, while this work is done by an Asp in HAD phosphatases and by a His in HPs, following a catalytic mechanism shared by all the different families.
Annotation and curation of uncharacterized proteins- challenges.
Review
Sundararajan et al., Hyderābād, India. In Front Genet, 2014
Hypothetical proteins (HPs) are the proteins predicted to be expressed from an open reading frame, making a substantial fraction of proteomes in both prokaryotes and eukaryotes.
In silico characterization of hypothetical proteins from Paracoccidioides lutzii.
Salem-Izacc et al., Goiânia, Brazil. In Genet Mol Res, 2014
Nearly 60% of Paracoccidioides lutzii genes encode products annotated as hypothetical or predicted proteins (HPs).
Antigenic properties of N protein of hantavirus.
Review
Arikawa et al., Sapporo, Japan. In Viruses, 2014
Hantavirus causes two important rodent-borne viral zoonoses, hemorrhagic fever with renal syndrome (HFRS) in Eurasia and hantavirus pulmonary syndrome (HPS) in North and South America.
[Hypomelanoses transmitted from generation to generation].
Review
Wrześniok et al., Laizhou, China. In Postepy Hig Med Dosw (online), 2013
These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
Review
Rivera et al., Murcia, Spain. In Hamostaseologie, 2013
Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules.
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
GeneRIF
Gahl et al., Bethesda, United States. In J Invest Dermatol, 2011
Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Novel mutations in the HPS1 gene among Puerto Rican patients.
GeneRIF
Huizing et al., Bethesda, United States. In Clin Genet, 2011
a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
GeneRIF
Zieger et al., Freiburg, Germany. In Klin Padiatr, 2010
Three different mutations in the HPS1 gene were found in the two families.
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
GeneRIF
Bonifacino et al., Bethesda, United States. In J Biol Chem, 2010
Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles.
Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release.
GeneRIF
Saiardi et al., London, United Kingdom. In Proc Natl Acad Sci U S A, 2010
diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles.
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.
Impact
Griffiths et al., Oxford, United Kingdom. In Nat Immunol, 2003
Individuals with HPS type 2 (HPS2) lack the cytosolic adaptor protein 3 (AP-3) involved in lysosomal sorting, and are also immunodeficient.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Impact
Swank et al., Buffalo, United States. In Nat Genet, 2003
Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles, such as melanosomes and platelet dense granules.
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Impact
Swank et al., Buffalo, United States. In Nat Genet, 2003
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes.
Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells.
Impact
Brenner et al., Boston, United States. In Immunity, 2002
In AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2 (HPS-2), CD1b failed to efficiently gain access to lysosomes, resulting in a profound defect in antigen presentation.
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Impact
Spritz et al., Denver, United States. In Nat Genet, 2002
In the mouse, more than 15 loci manifest mutant phenotypes similar to human HPS, including pale ear (ep), the mouse homolog of HPS1 (refs 13,14).
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