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Sex comb on midleg homolog 1

Scmh1, SCML1, Nance-Horan syndrome protein, Sex comb on midleg homolog-1, Sex comb on midleg homolog
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: Polycomb, Histone, CAN, Bmi-1, SCML2
Papers on Scmh1
Dynamic expression of chromatin modifiers during developmental transitions in mouse preimplantation embryos.
Peters et al., Basel, Switzerland. In Sci Rep, 2014
We also detected lineage-specific expression of several modifiers, including Ezh1, Prdm14, Scmh1 and Tet1 underscoring possible roles in cell fate decisions.
Information compression exploits patterns of genome composition to discriminate populations and highlight regions of evolutionary interest.
Reverter et al., Brisbane, Australia. In Bmc Bioinformatics, 2013
We also identified a set of previously unidentified loci with high population-specific CE scores including the chromatin remodeler SCMH1 in Africans and EDA2R in Asians.
Scmh1 has E3 ubiquitin ligase activity for geminin and histone H2A and regulates geminin stability directly or indirectly via transcriptional repression of Hoxa9 and Hoxb4.
Takihara et al., Hiroshima, Japan. In Mol Cell Biol, 2013
Scmh1 is a substoichiometric component of PcG complex 1 that provides the complex with an interaction domain for geminin.
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Weksberg et al., Toronto, Canada. In Bmc Med Genomics, 2012
Further, loss of DNA methylation at the promoters of the three top candidate genes FBXL5, SCMH1, CACYBP was not observed in more than 900 population controls.
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
Alkuraya et al., Riyadh, Saudi Arabia. In Ophthalmic Genet, 2012
Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females.
The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
Bouhamed et al., Tunisia. In Eur J Hum Genet, 2011
Direct sequencing of NHS sequences in a Tunisian family identified the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8.
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
Chen et al., Taiwan. In J Hum Genet, 2011
The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract.
Epigenetic modification of retinoic acid-treated human embryonic stem cells.
Shin et al., Seoul, South Korea. In Bmb Rep, 2010
Combined analysis of methylation and expression data revealed that 19 genes (STAP2, VAMP8, C10orf26, WFIKKN1, ELF3, C1QTNF6, C10orf10, MRGPRF, ARSE, LSAMP, CENTD3, LDB2, POU5F1, GSPT2, THY1, ZNF574, MSX1, SCMH1, and RARB) were highly correlated with each other.
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
Hardcastle et al., London, United Kingdom. In Hum Mol Genet, 2010
these data identify NHS as a new regulator of actin remodelling.
Polycomb group proteins as epigenetic mediators of neuroprotection in ischemic tolerance.
Zhou et al., Milford, United States. In Sci Signal, 2009
Knocking down PcG proteins precluded the induction of ischemic tolerance, whereas in an in vitro model, overexpressing the PcG proteins SCMH1 or BMI1 induced tolerance to ischemia without preconditioning.
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Hardcastle et al., London, United Kingdom. In Hum Mol Genet, 2009
Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome.
Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.
Takihara et al., Hiroshima, Japan. In Proc Natl Acad Sci U S A, 2008
Rae28 mediates recruiting Scmh1, which provides PcG complex 1 an interaction domain for Geminin.
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
Craig et al., Australia. In Mol Vis, 2007
This study aimed to identify the causative mutations in new patients diagnosed with Nance-Horan syndrome and to investigate the effect of mutations on subcellular localization of the NHS-A protein.
Adaptive evolution of SCML1 in primates, a gene involved in male reproduction.
Su et al., Kunming, China. In Bmc Evol Biol, 2007
the molecular evolutionary pattern of SCML1 in diverse primate species showed a strong signature of adaptive evolution which is caused by Darwinian positive selection
Mammalian Polycomb Scmh1 mediates exclusion of Polycomb complexes from the XY body in the pachytene spermatocytes.
Koseki et al., Yokohama, Japan. In Development, 2007
Scmh1 is involved in regulating the sequential changes in chromatin modifications at the XY chromatin domain of the pachytene spermatocytes.
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
Craig et al., Australia. In Hum Mol Genet, 2006
We demonstrate the differential expression of the two NHS isoforms, NHS-A and NHS-1A, and differences in the subcellular localization of the proteins encoded by these isoforms.
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
Franco et al., Tours, France. In Eur J Hum Genet, 2002
Direct sequencing or SSCP analysis of the coding exons of five genes (SCML1, SCML2, STK9, RS1 and PPEF1), considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS.
A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro.
Randazzo et al., Suita, Japan. In Differentiation, 1999
Accordingly, we have named the gene Sex comb on midleg homolog 1 (Scmh1).
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