Gene Gene information from NCBI Gene database.
Entrez ID 149041
Gene name Ring finger and CCCH-type domains 1
Gene symbol RC3H1
Synonyms (NCBI Gene)
FHL6IMDSHYRNF198ROQUIN
Chromosome 1
Chromosome location 1q25.1
Summary This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3` UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing r
miRNA miRNA information provided by mirtarbase database.
1338
miRTarBase ID miRNA Experiments Reference
MIRT038022 hsa-miR-423-5p CLASH 23622248
MIRT037221 hsa-miR-877-5p CLASH 23622248
MIRT521417 hsa-miR-410-3p HITS-CLIP 21572407
MIRT521420 hsa-miR-374a-5p HITS-CLIP 21572407
MIRT521419 hsa-miR-374b-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ISS
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 26489670
GO:0000209 Process Protein polyubiquitination IEA
GO:0000288 Process Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609424 29434 ENSG00000135870
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TC82
Protein name Roquin-1 (Roquin) (EC 2.3.2.27) (RING finger and C3H zinc finger protein 1) (RING finger and CCCH-type zinc finger domain-containing protein 1) (RING finger protein 198)
Protein 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
PDB 3X1O , 4QIK , 4QIL , 4ULW , 4YWQ , 8RHS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13445 zf-RING_UBOX 14 55 RING-type zinc-finger Domain
PF18386 ROQ_II 271 326 Roquin II domain Domain
PF00642 zf-CCCH 414 440 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in cerebellum, spleen, ovary and liver. {ECO:0000269|Ref.3}.
Sequence
MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTD
IELLPVNSALLQLVGAQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVG
LNSTTQSVLSRPMQRKLVTLVHCQLVEEEGRIRAMRAARSLGERTVTELILQHQNPQQLS
SNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKT
SIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAP
DQWSSLLYGDQSHKSHMQSIIDKLQT
PASFAQSVQELTIALQRTGDPANLNRLRPHLELL
ANIDPSPDAPPPTWEQLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCR
DMKQRGGCPRGASCTFAHSQ
EELEKFRKMNKRLVPRRPLSASLGQLNEVGLPSAAILPDE
GAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKIDHLSSSAPGSPPDLL
ESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAA
PPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQ
QYPPIYPSHYDGRRVYPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYP
VAPHPTQIRPSYLREPPYSRLPPPPQPHPSLDELHRRRKEIMAQLEERKVISPPPFAPSP
TLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTKDAKPKDVVAAGSVEM
MNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMA
PQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPS
AEREQLRLELQQLNHQISQQTQLRGLEAVSNRLVLQREANTLAGQSQPPPPPPPKWPGMI
SSEQLSLELHQVEREIGKRTRELSMENQCSLDMKSKLNTSKQAENGQPEPQNKVPAEDLT
LTFSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRSGVTPSSAP
Sequence length 1133
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hemophagocytic lymphohistiocytosis, familial, 6 Pathogenic rs1659895952 RCV001255150
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs748191564 RCV005930938
See cases Uncertain significance rs138013535 RCV001542352
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Coronavirus Infections Associate 34176764
Infections Associate 34176764
Lymphoma Large B Cell Diffuse Associate 37623434
Lymphoma T Cell Associate 23825522