HNRNPC

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Protein-coding gene in the species Homo sapiens

title: "HNRNPC" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in the species Homo sapiens" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/HNRNPC" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

Heterogeneous nuclear ribonucleoproteins C1/C2 is a protein that in humans is encoded by the HNRNPC gene.

It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.

Function

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing(reference: Koenig J. nature structural and Molecular Biology 2010: iCLIP) and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. Transcriptional regulation by hormonal 1,25-dihydroxyvitamin D(3) (calcitriol) involves occupancy of vitamin D response elements (VDREs) by HNRNPC or 1,25(OH)(2)D(3)-bound vitamin D receptor (VDR). This relationship is disrupted by elevated HNRNPC, causing a form of hereditary vitamin D-resistant rickets (HVDRR) in both humans and non-human primates. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Species-specific tetramerization of HNRNPC subunits is important to its nucleic acid binding, whereby over-expression of major human HNRNPC subunits in mouse osteoblastic cells confers vitamin D resistance. Multiple transcript variants encoding at least two different isoforms have been described for this gene.

Interactions

HNRNPC has been shown to interact with Grb2.

References

References

  1. (May 1986). "Molecular cloning of cDNA for the nuclear ribonucleoprotein particle C proteins: a conserved gene family". Proc Natl Acad Sci U S A.
  2. "Entrez Gene: HNRPC heterogeneous nuclear ribonucleoprotein C (C1/C2)".
  3. (September 2008). "Comparative proteomic analysis of human placenta derived from assisted reproductive technology". Proteomics.
  4. (March 2011). "Gene targeting by the vitamin D response element binding protein reveals a role for vitamin D in osteoblast mTOR signaling.". FASEB J.
  5. (December 2006). "Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein.". J Biol Chem.
  6. (March 2011). "Hormone response element binding proteins: novel regulators of vitamin D and estrogen signaling.". Steroids.
  7. (Feb 2003). "Novel regulators of vitamin D action and metabolism: Lessons learned at the Los Angeles zoo.". J Cell Biochem.
  8. (July 2014). "The heterodimeric structure of heterogeneous nuclear ribonucleoprotein C1/C2 dictates 1,25-dihydroxyvitamin D-directed transcriptional events in osteoblasts.". Bone Research.
  9. (Mar 1998). "Grb2 and its apoptotic isoform Grb3-3 associate with heterogeneous nuclear ribonucleoprotein C, and these interactions are modulated by poly(U) RNA". J. Biol. Chem..

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