RNF13
entrez
11342
canonical
uniprot
O43567
canonical
ensembl
ENSG00000082996
resolver
ensp
ENSP00000341361
resolver
ensp
ENSP00000355268
resolver
ensp
ENSP00000376628
resolver
ensp
ENSP00000420667
resolver
ensp
ENSP00000580628
resolver
ensp
ENSP00000580630
resolver
ensp
ENSP00000580644
resolver
ensp
ENSP00000614932
resolver
ensp
ENSP00000614935
resolver
ensp
ENSP00000614940
resolver
genesymbol
RNF13
resolver
genesymbol_syn
RZF
resolver
hgnc
HGNC:10057
resolver
uniprot
A6NC87
resolver
uniprot
B3KR12
resolver
uniprot
Q05D66
resolver
uniprot
Q6IBJ9
resolver
uniprot_entry
RNF13_HUMAN
resolver
uniprot_sec
A6NC87
resolver
uniprot_sec
B3KR12
resolver
uniprot_sec
Q05D66
resolver
uniprot_sec
Q6IBJ9
resolver
amino_acid_sequence
MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 73 (DEE73) [MIM:618379]: 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. {ECO:0000269|PubMed:30595371}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
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). {ECO:0000269|PubMed:18794910, ECO:0000269|PubMed:23378536, ECO:0000269|PubMed:24387786, ECO:0000269|PubMed:30595371}.
uniprot
proteins
mass_dalton
42814
uniprot
proteins
mutagenesis
MUTAGEN 1..183; /note="Missing: No effect on ER stress-induced JNK activation and apoptosis."; /evidence="ECO:0000269|PubMed:23378536"; MUTAGEN 43; /note="N->A: No effect on glycosylation."; /evidence="ECO:0000269|PubMed:18794910"; MUTAGEN 52..162; /note="Missing: No effect on ER stress-induced JNK activation and apoptosis. No effect on interaction with ERN1."; /evidence="ECO:0000269|PubMed:23378536"; MUTAGEN 88; /note="N->A: Loss of glycosylation."; /evidence="ECO:0000269|PubMed:18794910"; MUTAGEN 165..381; /note="Missing: Abolishes ER stress-induced JNK activation and apoptosis."; /evidence="ECO:0000269|PubMed:23378536"; MUTAGEN 184..207; /note="Missing: Abolishes ER stress-induced JNK activation and apoptosis. Disrupts localization to endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:23378536"; MUTAGEN 243; /note="C->W: Abolishes ER stress-induced JNK activation and apoptosis. Abolishes interaction with ERN1. Does not affect localization to endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:23378536"; MUTAGEN 258; /note="C->A: Complete loss of E3 ligase activity; when associated with A-260."; /evidence="ECO:0000269|PubMed:18794910"; MUTAGEN 260; /note="H->A: Complete loss of E3 ligase activity; when associated with A-258."; /evidence="ECO:0000269|PubMed:18794910"; MUTAGEN 270; /note="W->A: Drastically reduces E3 ligase activity."; /evidence="ECO:0000269|PubMed:18794910
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:18794910, ECO:0000269|PubMed:24387786}.
uniprot
proteins
post_translational_modification
PTM: Autoubiquitinated. {ECO:0000269|PubMed:18794910}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18794910
uniprot
proteins
pubmed
23378536
uniprot
proteins
pubmed
24387786
uniprot
proteins
pubmed
30595371
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18794910, ECO:0000269|PubMed:23378536, ECO:0000269|PubMed:24387786}; Single-pass type I membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000305|PubMed:24387786}; Single-pass type I membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255}. Nucleus inner membrane {ECO:0000250|UniProtKB:O54965}; Single-pass type I membrane protein {ECO:0000255}. Note=Under certain conditions, relocalizes to recycling endosomes and to the inner nuclear membrane. {ECO:0000250|UniProtKB:O54965}.
uniprot
proteins
transmembrane_region
TRANSMEM 183..203; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins