DISEASES

Disease-gene associations mined from literature

Literature associating HNRNPC and multisystem proteinopathy

HNRNPC [ENSP00000451291]

Heterogeneous nuclear ribonucleoproteins C1/C2; Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles . 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 . 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 . ECO:0000269|PubMed:25719671, ECO:0000269|PubMed:7567451,

Synonyms:  HNRNPC,  B2R5W2,  B4DSU6,  B4DY08,  G3V251 ...

Linkouts:  STRING  Pharos  UniProt