TRIM8
entrez
81603
canonical
uniprot
Q9BZR9
canonical
ensembl
ENSG00000171206
resolver
ensp
ENSP00000496301
resolver
ensp
ENSP00000518207
resolver
enst
ENST00000643721
resolver
enst
ENST00000710327
resolver
genesymbol
TRIM8
resolver
genesymbol_syn
GERP
resolver
genesymbol_syn
RNF27
resolver
hgnc
HGNC:15579
resolver
uniprot
A6NI31
resolver
uniprot
Q9C028
resolver
uniprot_entry
TRIM8_HUMAN
resolver
uniprot_sec
A6NI31
resolver
uniprot_sec
Q9C028
resolver
amino_acid_sequence
MAENWKNCFEEELICPICLHVFVEPVQLPCKHNFCRGCIGEAWAKDSGLVRCPECNQAYNQKPGLEKNLKLTNIVEKFNALHVEKPPAALHCVFCRRGPPLPAQKVCLRCEAPCCQSHVQTHLQQPSTARGHLLVEADDVRAWSCPQHNAYRLYHCEAEQVAVCQYCCYYSGAHQGHSVCDVEIRRNEIRKMLMKQQDRLEEREQDIEDQLYKLESDKRLVEEKVNQLKEEVRLQYEKLHQLLDEDLRQTVEVLDKAQAKFCSENAAQALHLGERMQEAKKLLGSLQLLFDKTEDVSFMKNTKSVKILMDRTQTCTSSSLSPTKIGHLNSKLFLNEVAKKEKQLRKMLEGPFSTPVPFLQSVPLYPCGVSSSGAEKRKHSTAFPEASFLETSSGPVGGQYGAAGTASGEGQSGQPLGPCSSTQHLVALPGGAQPVHSSPVFPPSQYPNGSAAQQPMLPQYGGRKILVCSVDNCYCSSVANHGGHQPYPRSGHFPWTVPSQEYSHPLPPTPSVPQSLPSLAVRDWLDASQQPGHQDFYRVYGQPSTKHYVTS
uniprot
proteins
disease_involvement
DISEASE: Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) [MIM:619428]: An autosomal dominant disorder characterized by global developmental delay associated with variable features of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and non-specific dysmorphic facial features, are commonly observed. {ECO:0000269|PubMed:30244534, ECO:0000269|PubMed:32193649, ECO:0000269|PubMed:33508234}. 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 participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubMed:28747347). Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1 (PubMed:12163497). Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the 'Lys-63'-linked polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B (PubMed:22084099, PubMed:23152791, PubMed:27981609, PubMed:34871740). Also modulates STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 from the nucleus (PubMed:20516148). Negatively regulates TLR3/4-mediated innate immune response by catalyzing 'Lys-6'- and 'Lys-33'-linked polyubiquitination of TICAM1 and thereby disrupting the TICAM1-TBK1 interaction (PubMed:28747347). {ECO:0000269|PubMed:12163497, ECO:0000269|PubMed:20516148, ECO:0000269|PubMed:22084099, ECO:0000269|PubMed:23152791, ECO:0000269|PubMed:28747347, ECO:0000269|PubMed:34871740}.
uniprot
proteins
mass_dalton
61489
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="C->A: Complete loss of ubiquitination activity on MAP3K7/TAK1."; /evidence="ECO:0000269|PubMed:27981609"; MUTAGEN 15; /note="C->S: Complete loss of ubiquitination activity on TICAM1."; /evidence="ECO:0000269|PubMed:28747347"; MUTAGEN 18; /note="C->A: Complete loss of ubiquitination activity on MAP3K7/TAK1."; /evidence="ECO:0000269|PubMed:27981609"; MUTAGEN 18; /note="C->S: Complete loss of ubiquitination activity on TICAM1."; /evidence="ECO:0000269|PubMed:28747347"; MUTAGEN 30; /note="C->S: Complete loss of ubiquitination activity on TICAM1."; /evidence="ECO:0000269|PubMed:28747347
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
protein_family
TRIM/RBCC family
uniprot
proteins
pubmed
11118312
uniprot
proteins
pubmed
11331580
uniprot
proteins
pubmed
12163497
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20516148
uniprot
proteins
pubmed
22084099
uniprot
proteins
pubmed
23152791
uniprot
proteins
pubmed
27981609
uniprot
proteins
pubmed
28124119
uniprot
proteins
pubmed
28747347
uniprot
proteins
pubmed
30244534
uniprot
proteins
pubmed
32193649
uniprot
proteins
pubmed
33508234
uniprot
proteins
pubmed
34871740
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23152791, ECO:0000269|PubMed:34871740}. Nucleus {ECO:0000269|PubMed:23152791, ECO:0000269|PubMed:34871740}. Nucleus, nuclear body {ECO:0000269|PubMed:33508234}. Note=Nucleo-cytoplasmic translocation is involved in regulation of NF-kappa-B. {ECO:0000269|PubMed:23152791}.
uniprot
proteins