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Regulatory factor X-associated ankyrin-containing protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, MHC, HAIR, TRPC1
Papers on BLS
Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 Genomes data.
Blum et al., Berkeley, United States. In Mol Biol Evol, Jan 2016
The correlations between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and non-coding RNAs.
Adenoviral targeting of malignant melanoma for fluorescence-guided surgery prevents recurrence in orthotopic nude-mouse models.
Hoffman et al., San Diego, United States. In Oncotarget, Jan 2016
OBP-401-based fluorescence-guided surgery (FGS) resulted in the complete resection of malignant melanoma in the orthotopic models, where conventional bright-light surgery (BLS) could not.
Part 3: Adult Basic Life Support and Automated External Defibrillation: 2015 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations.
Basic Life Support Chapter Collaborators et al., In Circulation, Nov 2015
This review comprises the most extensive literature search and evidence evaluation to date on the most important international BLS interventions, diagnostics, and prognostic factors for cardiac arrest victims.
A novel lumazine synthase molecule from Brucella significantly promotes the immune-stimulation effects of antigenic protein.
Wang et al., Baotou, China. In Genet Mol Res, 2014
The intact Brucella lumazine synthase (bls) gene was cloned and recombinantly expressed to study polymerization function in vitro.
Expression of the Multimeric and Highly Immunogenic Brucella spp. Lumazine Synthase Fused to Bovine Rotavirus VP8d as a Scaffold for Antigen Production in Tobacco Chloroplasts.
Bravo-Almonacid et al., Buenos Aires, Argentina. In Front Plant Sci, 2014
(BLS) is a highly immunogenic decameric protein which can accommodate foreign polypeptides or protein domains fused to its N-termini, markedly increasing their immunogenicity.
Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review.
Arron et al., San Francisco, United States. In Br J Dermatol, 2014
There are a few other SNPs found in TYR, OCA2 and SLC45A2 that may show additional correlation after future research.
MHC class I and II deficiencies.
Etzioni et al., Haifa, Israel. In J Allergy Clin Immunol, 2014
These transacting factors are the class II transactivator and 3 subunits of regulatory factor X (RFX): RFX containing ankyrin repeats (RFXANK), the fifth member of the RFX family (RFX5), and RFX-associated protein (RFXAP).
The inheritance of resistance to bacterial leaf spot of lettuce caused by Xanthomonas campestris pv. vitians in three lettuce cultivars.
Bull et al., Salinas, United States. In Hortic Res, 2013
Lettuce yields can be reduced by the disease bacterial leaf spot (BLS) caused by the pathogen Xanthomonas campestris pv.
[Hypomelanoses transmitted from generation to generation].
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.
Mutational analysis of oculocutaneous albinism: a compact review.
Purohit et al., Vellore, India. In Biomed Res Int, 2013
Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism.
MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
Soufir et al., Valencia, Spain. In Eur J Cancer, 2012
In South European populations, MC1R red hair color and SCL45A2 p.Phe374Leu variants are strong melanoma risk predictors.
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
Kim et al., Seoul, South Korea. In Mol Med Report, 2012
The SLC45A2 gene analysis identified 1 novel mutation, p.D93N.
Molecular analysis of Korean patients with oculocutaneous albinism.
Kim et al., Seoul, South Korea. In Jpn J Ophthalmol, 2012
Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with oculocutaneous albinism (OCA)
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Picard et al., Paris, France. In Blood, 2011
genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1)
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Gahl et al., Bethesda, United States. In J Invest Dermatol, 2011
analysis of SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia [case report]
New common variants affecting susceptibility to basal cell carcinoma.
Stefansson et al., Reykjavík, Iceland. In Nat Genet, 2009
A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma.
Genome-wide detection and characterization of positive selection in human populations.
Stewart et al., Cambridge, United States. In Nature, 2007
Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
When the lymphocyte loses its clothes.
Peterlin et al., Ljubljana, Slovenia. In Immunity, 2003
The type II bare lymphocyte syndrome (BLS) or major histocompatibility complex class II (MHCII) deficiency is a severe combined immunodeficiency (SCID) that is characterized by the absence of constitutive and inducible expression of MHCII determinants on immune cells.
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.
Peterlin et al., San Francisco, United States. In Nat Immunol, 2002
Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutations in four different transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes.
The bare lymphocyte syndrome and the regulation of MHC expression.
Mach et al., Genève, Switzerland. In Annu Rev Immunol, 2000
The bare lymphocyte syndrome (BLS) is a hereditary immunodeficiency resulting from the absence of major histocompatibility complex class II (MHCII) expression.
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