RC3H1
entrez
149041
canonical
uniprot
Q5TC82
canonical
ensembl
ENSG00000135870
resolver
ensp
ENSP00000356667
resolver
ensp
ENSP00000356669
resolver
ensp
ENSP00000562931
resolver
ensp
ENSP00000627980
resolver
ensp
ENSP00000661177
resolver
ensp
ENSP00000661178
resolver
ensp
ENSP00000746521
resolver
genesymbol
RC3H1
resolver
genesymbol_syn
KIAA2025
resolver
genesymbol_syn
RNF198
resolver
hgnc
HGNC:29434
resolver
uniprot
B3KVK1
resolver
uniprot
B7ZMB3
resolver
uniprot
B9EGU6
resolver
uniprot
Q5W180
resolver
uniprot
Q5W181
resolver
uniprot
Q8IVE6
resolver
uniprot
Q8N9V1
resolver
uniprot_entry
B7ZMB3_HUMAN
resolver
uniprot_entry
B9EGU6_HUMAN
resolver
uniprot_entry
RC3H1_HUMAN
resolver
uniprot_sec
B3KVK1
resolver
uniprot_sec
Q5W180
resolver
uniprot_sec
Q5W181
resolver
uniprot_sec
Q8IVE6
resolver
uniprot_sec
Q8N9V1
resolver
amino_acid_sequence
MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTDIELLPVNSALLQLVGAQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVGLNSTTQSVLSRPMQRKLVTLVHCQLVEEEGRIRAMRAARSLGERTVTELILQHQNPQQLSSNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAPDQWSSLLYGDQSHKSHMQSIIDKLQTPASFAQSVQELTIALQRTGDPANLNRLRPHLELLANIDPSPDAPPPTWEQLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCRDMKQRGGCPRGASCTFAHSQEELEKFRKMNKRLVPRRPLSASLGQLNEVGLPSAAILPDEGAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKIDHLSSSAPGSPPDLLESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAAPPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQQYPPIYPSHYDGRRVYPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYPVAPHPTQIRPSYLREPPYSRLPPPPQPHPSLDELHRRRKEIMAQLEERKVISPPPFAPSPTLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTKDAKPKDVVAAGSVEMMNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMAPQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPSAEREQLRLELQQLNHQISQQTQLRGLEAVSNRLVLQREANTLAGQSQPPPPPPPKWPGMISSEQLSLELHQVEREIGKRTRELSMENQCSLDMKSKLNTSKQAENGQPEPQNKVPAEDLTLTFSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRSGVTPSSAP
uniprot
proteins
disease_involvement
DISEASE: Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) [MIM:618998]: An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. {ECO:0000269|PubMed:31636267}. 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: Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078, PubMed:31636267). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing a hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Together with ZC3H12A, destabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25026078, PubMed:25504471). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406, PubMed:31636267). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). {ECO:0000250|UniProtKB:Q4VGL6, ECO:0000269|PubMed:25026078, ECO:0000269|PubMed:25504471, ECO:0000269|PubMed:25697406, ECO:0000269|PubMed:26489670, ECO:0000269|PubMed:31636267}.
uniprot
proteins
mass_dalton
125736
uniprot
proteins
mutagenesis
MUTAGEN 135..136; /note="RK->EE: No effect on CDERNA-binding but abolishes dsRNA binding; when associated with E-164 or A-322-323-A."; /evidence="ECO:0000269|PubMed:25026078"; MUTAGEN 164; /note="R->E: No effect on CDERNA-binding but abolishes dsRNA binding; when associated with 135-E-E-136."; /evidence="ECO:0000269|PubMed:25026078"; MUTAGEN 219..220; /note="RK->AA: Strongly decreases binding to RNA containing CDE stem-loop motifs. Abolishes binding to RNA containing CDE stem-loop motifs and dsRNA; when associated with 259-A-A-260."; /evidence="ECO:0000269|PubMed:25504471"; MUTAGEN 239..240; /note="KT->EA: Abolishes CDERNA-binding but no effect on dsRNA binding."; /evidence="ECO:0000269|PubMed:25026078"; MUTAGEN 247..251; /note="QLLYR->ALLAE: Abolishes CDERNA-binding but no effect on dsRNA binding."; /evidence="ECO:0000269|PubMed:25026078"; MUTAGEN 259..260; /note="KR->AA: Strongly decreases binding to RNA containing CDE stem-loop motifs. Abolishes binding to RNA containing CDE stem-loop motifs and dsRNA; when associated with 219-A-A-220."; /evidence="ECO:0000269|PubMed:25504471"; MUTAGEN 318..319; /note="QS->AA: Slightly reduces stem-loop RNA and dsRNA binding."; /evidence="ECO:0000269|PubMed:25026078"; MUTAGEN 322..323; /note="DK->AA: No effect on CDERNA-binding but abolishes dsRNA binding; when associated with 135-E-E-136."; /evidence="ECO:0000269|PubMed:25026078
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:26489670}.
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved after Arg-510 and Arg-579 by MALT1 in activated CD4(+) T cells; cleavage at Arg-510 and Arg-579 is critical for promoting RC3H1 degradation in response to T-cell receptor (TCR) stimulation, and hence is necessary for prolonging the stability of a set of mRNAs controlling Th17 cell differentiation. {ECO:0000250|UniProtKB:Q4VGL6}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23550652
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25026078
uniprot
proteins
pubmed
25504471
uniprot
proteins
pubmed
25697406
uniprot
proteins
pubmed
26489670
uniprot
proteins
pubmed
31636267
uniprot
proteins
sequence_length
1133
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:31636267}. Cytoplasmic granule {ECO:0000250|UniProtKB:Q4VGL6}. Note=During stress, such as that induced by arsenite treatment, localizes to cytosolic stress granules (By similarity). Localization to stress granules, but not to P-bodies, depends upon the RING-type zinc finger (By similarity). ICOS repression may correlate with the localization to P-bodies, not to stress granules (By similarity). {ECO:0000250|UniProtKB:Q4VGL6}.
uniprot
proteins