• The protein produced from this gene, called heterogenous nuclear ribonucleoprotein K (hnRNP K), attaches (binds) to DNA or its chemical cousin RNA and to other proteins, acting as a docking station for these molecules so they can interact. (medlineplus.gov)
  • HNRNPK gene mutations that cause Au-Kline syndrome result in the production of little or no hnRNP K protein. (medlineplus.gov)
  • However, fine control of splice site usage is orchestrated by a complex interplay between splicing regulator proteins such as the Serine Arginine (SR) class of splicing activators and the heterogeneous ribonucleoprotein (hnRNP) class of splicing repressors. (beds.ac.uk)
  • Heterogeneous nuclear ribonucleoprotein K (also protein K) is a protein that in humans is encoded by the HNRNPK gene. (wikipedia.org)
  • PCBP1 along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. (prospecbio.com)
  • Mechanistically, lnc-LBCS directly binds to heterogeneous nuclear ribonucleoprotein K (hnRNPK) and attention of zeste homolog two (EZH2), and is a scaffold to induce the formation of this complicated to repress SRY-box two (SOX2) transcription via mediating simple protein H3 essential amino acid twenty seven tri-methylation. (journalgazett.com)
  • Indeed, previous studies have shown the paraspeckle protein, hnRNPK, increases the production of NEAT1_2 by negatively regulating the polyadenylation signal of the shorter NEAT1_1 isoform ( 8 ). (amegroups.org)
  • It is found in the cell nucleus that binds to pre-messenger RNA (mRNA) as a component of heterogeneous ribonucleoprotein particles. (wikipedia.org)
  • Mutations in both copies of HNRNPK are embryonic lethal in mice. (wikipedia.org)
  • Mutations in HNRNPK cause Okamoto syndrome, also known as Au-Kline syndrome. (wikipedia.org)
  • Au-Kline syndrome is caused by mutations in the HNRNPK gene. (medlineplus.gov)
  • HNRNPK overexpression also appears to contribute to cancers via a different mechanism involving translation rather than transcription. (wikipedia.org)
  • Overall, these data show that the heterogeneous reactivity of astrocytes in prion diseases depends at least in part on the infecting prion strains and their specific interaction with astrocytes. (bvsalud.org)
  • Additionally, a majority of mice who have had one of their HNRNPK genes artificially knocked out developed myeloid cancers, with a third developing lymphoid cancers and 4% developing hepatocellular carcinomas. (wikipedia.org)
  • However, whether the increased expression of NEAT1_2 in HER2+ breast cancers is driven by hnRNPK will require additional research. (amegroups.org)
  • Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. (nih.gov)
  • Deletions in the region encompassing HNRNPK have been found in the cells of acute myeloid leukemia in approximately 2% of cases. (wikipedia.org)
  • The long isoform, NEAT1_2 (~23 kb), is essential for the formation of paraspeckles, ribonucleoprotein bodies found in mammalian cells, which regulate gene expression through the sequestration of RNA and proteins ( 8 ). (amegroups.org)
  • In breast cell lines, hnRNPK is induced by growth factors, but blocked by treatment with anti-HER2 antibodies suggesting hnRNPK may play an important role in HER2 signalling ( 11 ). (amegroups.org)
  • Deficiencies in HNRNPK appear to specifically reduce the levels of the p42 isoform of CEBPA, which is a transcription factor involved in the differentiation of certain blood cells, as well as p21 (cyclin-dependent kinase inhibitor 1), which is involved in pausing cell development for DNA repair. (wikipedia.org)
  • Numerous studies have shown that the NEAT1 (nuclear enriched abundant transcript 1) lncRNA plays a key role in cancer biology. (amegroups.org)
  • Additionally, a majority of mice who have had one of their HNRNPK genes artificially knocked out developed myeloid cancers, with a third developing lymphoid cancers and 4% developing hepatocellular carcinomas. (wikipedia.org)
  • Deletions in the region encompassing HNRNPK have been found in the cells of acute myeloid leukemia in approximately 2% of cases. (wikipedia.org)
  • Deficiencies in HNRNPK appear to specifically reduce the levels of the p42 isoform of CEBPA, which is a transcription factor involved in the differentiation of certain blood cells, as well as p21 (cyclin-dependent kinase inhibitor 1), which is involved in pausing cell development for DNA repair. (wikipedia.org)
  • HNRNPK overexpression also appears to contribute to cancers via a different mechanism involving translation rather than transcription. (wikipedia.org)
  • 1. Circular RNA (circ-0075804) promotes the proliferation of retinoblastoma via combining heterogeneous nuclear ribonucleoprotein K (HNRNPK) to improve the stability of E2F transcription factor 3 E2F3. (nih.gov)
  • To elucidate the basis of sequence-specific single-stranded (ss) DNA recognition by K homology (KH) domains, we have solved the solution structure of a complex between the KH3 domain of the transcriptional regulator heterogeneous nuclear ribonucleoprotein K (hnRNP K) and a 10mer ssDNA. (nih.gov)
  • An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. (nih.gov)
  • Mutations in HNRNPK cause Okamoto syndrome, also known as Au-Kline syndrome. (wikipedia.org)
  • The diagnosis of Au-Kline syndrome is established in a proband by identification of a heterozygous pathogenic variant in HNRNPK on molecular genetic testing . (nih.gov)
  • All probands reported to date with Au-Kline syndrome have the disorder as a result of a de novo HNRNPK pathogenic variant . (nih.gov)
  • Each child of an individual with Au-Kline syndrome has a 50% chance of inheriting the HNRNPK pathogenic variant. (nih.gov)
  • It is found in the cell nucleus that binds to pre-messenger RNA (mRNA) as a component of heterogeneous ribonucleoprotein particles. (wikipedia.org)
  • The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). (nih.gov)