RNF13 gene

ring finger protein 13

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371).

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73

From UniProt:

Epileptic encephalopathy, early infantile, 73 (EIEE73): A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE73 is an autosomal dominant form with onset at birth. [MIM:618379]

Cytogenetic Location: 3q25.1, which is the long (q) arm of chromosome 3 at position 25.1

Molecular Location: base pairs 149,812,688 to 149,962,139 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q25.1, which is the long (q) arm of chromosome 3 at position 25.1
  • EIEE73
  • RZF