Disease-gene associations mined from literature

Literature associating RNF113A and cerebellar hypoplasia

RNF113A [ENSP00000360497]

E3 ubiquitin-protein ligase RNF113A; Required for pre-mRNA splicing as component of the spliceosome . E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins . Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains . Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents . Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling . ECO:0000269|PubMed:29144457, ECO:0000269|PubMed:29360106,

Synonyms:  RNF113A,  RNF113Ap,  hRNF113A,  O15541,  O15541p ...

Linkouts:  STRING  Pharos  UniProt