RNF13

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]

Full Name

ring finger protein 13

Function

E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371).
Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371).
Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371).
Also involved in protein trafficking and localization (PubMed:24387786).

Biological Process

Biological Process organelle localizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of stress-activated protein kinase signaling cascadeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein autoubiquitinationISS:UniProtKB
Biological Process ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Endoplasmic reticulum membrane
Late endosome membrane
Lysosome membrane
Nucleus inner membrane
Under certain conditions, relocalizes to recycling endosomes and to the inner nuclear membrane.

Involvement in disease

Developmental and epileptic encephalopathy 73 (DEE73):
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. DEE73 is an autosomal dominant form with onset at birth.

Topology

Lumenal: 35-182
Helical: 183-203
Cytoplasmic: 204-381

PTM

Autoubiquitinated.