HNRNPC


Description

The HNRNPC (heterogeneous nuclear ribonucleoprotein C) is a protein-coding gene located on chromosome 14.

HNRNPC is a protein encoded by the HNRNPC gene in humans. It belongs to the heterogeneous nuclear ribonucleoproteins (hnRNPs) family and is involved in pre-mRNA processing and other aspects of mRNA metabolism and transport. It acts as a tetramer and is essential for the assembly of 40S hnRNP particles. HNRNPC plays a role in transcriptional regulation by interacting with vitamin D response elements (VDREs). Elevated levels of HNRNPC can disrupt this interaction, leading to vitamin D-resistant rickets. HNRNPC is abnormally expressed in fetuses conceived through in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), which may contribute to the increased risk of birth defects in these assisted reproductive technologies (ART).

HNRNPC binds to pre-mRNA and initiates the formation of 40S hnRNP particles. It interacts with poly-U sequences in the 3'-UTR or 5'-UTR of mRNA, influencing the stability and translation levels of bound mRNA. A single HNRNPC tetramer binds 230-240 nucleotides, while trimers of these tetramers bind 700 nucleotides. HNRNPC may participate in the early stages of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) modifies the local structure of mRNAs and long non-coding RNAs (lncRNAs) through a mechanism known as 'm(6)A-switch,' which facilitates HNRNPC binding and regulates mRNA splicing.

HNRNPC is also known as C1, C2, HNRNP, HNRPC, MRD74, SNRPC.

Associated Diseases



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