Heterogeneous nuclear ribonucleoproteins C1/C2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''HNRNPC''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is abnormally expressed in fetuses of both
IVF and
ICSI, which may contribute to the increase risk of birth defects in these
ART
Art is a diverse range of cultural activity centered around ''works'' utilizing creative or imaginative talents, which are expected to evoke a worthwhile experience, generally through an expression of emotional power, conceptual ideas, tec ...
.
Function
This gene belongs to the subfamily of ubiquitously expressed
heterogeneous nuclear ribonucleoprotein
Heterogeneous nuclear ribonucleoproteins (hnRNPs) are complexes of RNA and protein present in the cell nucleus during transcription (genetics), gene transcription and subsequent post-transcriptional modification of the newly synthesized RNA (pre-mR ...
s (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
Calcitriol is a hormone and the active form of vitamin D, normally made in the kidney. It is also known as 1,25-dihydroxycholecalciferol. It binds to and activates the vitamin D receptor in the nucleus of the cell, which then increases the exp ...
) 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
Growth factor receptor-bound protein 2, also known as Grb2, is an adaptor protein involved in signal transduction/ cell communication. In humans, the GRB2 protein is encoded by the ''GRB2'' gene.
The protein encoded by this gene binds recepto ...
.
References
Further reading
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{{Ribonucleoproteins