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RNA binding motif protein 28

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: CAN, OUT, Thyrotropin-Releasing Hormone, HAIR, Lin28
Papers on RBM28
Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.
Najmabadi et al., Tehrān, Iran. In Arch Iran Med, Oct 2015
RESULTS: We identified four protein coding alleles which possibly affect protein function, in different ID genes: PMM2, RBM28, SLC19A3, and VPS13B.
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
Nousbeck et al., Tel Aviv-Yafo, Israel. In Exp Dermatol, Aug 2015
Alopecia-neurological defects-endocrinopathy (ANE) syndrome is a rare inherited hair disorder, which was shown to result from decreased expression of the RNA-binding motif protein 28 (RBM28).
Regulation of lin-4 miRNA expression, organismal growth and development by a conserved RNA binding protein in C. elegans.
Pasquinelli et al., San Diego, United States. In Dev Biol, 2011
homologous to the human RBM28 and yeast Nop4p proteins, that is important for lin-4 expression in C. elegans.
Gene expression profiling of oral squamous cell carcinoma by differential display rt-PCR and identification of tumor biomarkers.
Kumar et al., In Indian J Surg Oncol, 2010
In order to ascertain the utility of some of the identified genes as molecular markers and therapeutic targets, semi-quantitative RT-PCR analysis was carried out in a panel of matched oral normal and tumor samples, that confirmed GLTP, PCNA, RBM28, C17orf75 and DIAPH1 as significantly upregulated, whereas TNKS2, PAM and TUBB2C showed significant downregulation in tumor samples.
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
Tenenbaum-Rakover et al., Israel. In Eur J Endocrinol, 2010
RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone deficiency.
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
Sprecher et al., Haifa, Israel. In Am J Hum Genet, 2008
A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome).
Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.
Bindereif et al., Gießen, Germany. In Biol Chem, 2006
RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus
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