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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Adaptor-related protein complex 1, sigma 2 subunit

sigma1B, AP1S2, adaptor-related protein complex 1 sigma 2 subunit, DC-22, MRX59
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: AP1S1, AP-1, XLMR, HAD, miR
Papers on sigma1B
Next-generation sequencing in X-linked intellectual disability.
New
Bauer et al., Dresden, Germany. In Eur J Hum Genet, Nov 2015
We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients.
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Tobin et al., London, United Kingdom. In Nat Commun, 2014
We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue.
Schu et al., Göttingen, Germany. In J Cell Sci, 2014
Vertebrates express three AP1 σ1 subunit isoforms - σ1A, σ1B and σ1C (also known as AP1S1, AP1S2 and AP1S3, respectively).
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Villard et al., Marseille, France. In Eur J Hum Genet, 2014
We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing.
New target genes of MITF-induced microRNA-211 contribute to melanoma cell invasion.
Kreis et al., Luxembourg, Luxembourg. In Plos One, 2012
MiR-211 itself only marginally impacted on cell invasion and migration, while perturbation of some new miR-211 target genes, such as AP1S2, SOX11, IGFBP5, and SERINC3 significantly increased invasion.
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Giardino et al., Milano, Italy. In Eur J Med Genet, 2012
centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unspecific dysmorphic facial features.
Disease-dependent differently methylated regions (D-DMRs) of DNA are enriched on the X chromosome in uterine leiomyoma.
Shiota et al., Ube, Japan. In J Reprod Dev, 2011
Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).
Role of miR-204 in the regulation of apoptosis, endoplasmic reticulum stress response, and inflammation in human trabecular meshwork cells.
Gonzalez et al., Durham, United States. In Invest Ophthalmol Vis Sci, 2011
Twelve genes (AP1S2, Bcl2l2, BIRC2, EDEM1, EZR, FZD1, M6PR, RAB22A, RAB40B, SERP1, TCF12, and TCF4) were validated as direct targets of miR-204.
X chromosome and suicide.
Turecki et al., Montréal, Canada. In Mol Psychiatry, 2011
Six genes within these regions, Rho GTPase-activating protein 6, adaptor-related protein complex 1 sigma 2 subunit, glycoprotein M6B, ribosomal protein S6 kinase 90  kDa polypeptide 3, spermidine/spermine N(1)-acetyltransferase 1 and THO complex 2, were found to be differentially expressed in suicide completers.
AP-1/sigma1B-adaptin mediates endosomal synaptic vesicle recycling, learning and memory.
Schu et al., Münster, Germany. In Embo J, 2010
Mice deficient in the tissue-specific AP-1-sigma1B complex have impaired synaptic vesicle recycling in hippocampal synapses.
Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.
Raca et al., Madison, United States. In Am J Med Genet A, 2010
The duplicated segments contain numerous genes associated with MR, including AP1S2, NHS, CDKL5, RPS6KA3, SMS, and ARX.
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
GeneRIF
Colleaux et al., Paris, France. In Hum Mutat, 2008
absence of an AP-1 defect in peripheral tissues is due to functional redundancy among AP-1 subunits
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
GeneRIF
Bienvenu et al., In J Med Genet, 2007
A mutation in the 3d intron causes skipping of exon 3 yielding a protein with 3 new AAs terminating at codon 64. A new nonsense mutation p.Gln66X was found in exon 3. Without AP1S2, defective membrane protein trafficking alters brain neural cell fate.
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Raymond et al., Cambridge, United Kingdom. In Am J Hum Genet, 2006
In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families.
Immune responses to six synthetic peptides of capsid protein with sera from HIV-1 infected individuals.
Zheng et al., Kunming, China. In Cell Mol Immunol, 2005
Except 13 sera (19.4%), all remaining sera did not recognize peptides NI-15, DR-16, DC-22 and PS-18, which indicated that these four peptides represented B cell linear epitopes of HIV-1 p24 in some HIV-1 infected individuals but not the immuno-dominant epitopes in most individuals.
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