HNRNPC

Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671).

Intellectual developmental disorder, autosomal dominant 74

MRD74

An autosomal dominant disorder characterized by global developmental delay, including delay of motor skills and speech delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated on Ser-260 and Ser-299 in resting cells. Phosphorylated on Ser-253 and on 1 serine residue in the poly-Ser stretch at position 238 in response to hydrogen peroxide.

Sumoylated. Sumoylation reduces affinity for mRNA.

Ubiquitinated and degraded after nucleo-cytoplasmic transport by YWHAE.

Belongs to the RRM HNRPC family. RALY subfamily.

• Nucleus
• Component of ribonucleosomes.

HNRPC, HNRNPC, Heterogeneous nuclear ribonucleoproteins C1/C2, hnRNP C1/C2

• entrezGene:3183
• omim:164020
• swissprot:P07910

Proteins

Epigenetics

33670Da