• Gene id: 149041

Gene Summary

• Gene Symbol: RC3H1   Gene   UCSC   Ensembl
• Aliases: RNF198, ROQUIN
• Gene name: ring finger and CCCH-type domains 1
• Alternate names: roquin-1, RING finger and C3H zinc finger protein 1, RING finger and CCCH-type zinc finger domain-containing protein 1, RING finger protein 198, probable E3 ubiquitin-protein ligase Roquin,
• Gene location: 1q25.1 (174022356: 173931083)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 609424

Protein Summary

• Protein general information: Q5TC82  
  • 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)
  • Length: 1133  
  • Mass: 125736
  • Tissue specificity: Widely expressed. Expressed at higher level in cerebellum, spleen, ovary and liver. {ECO
• Sequence:

  MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTDIELLPVNSALLQLVG
  AQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVGLNSTTQSVLSRPMQRKLVTLVHCQLVEEEG
  RIRAMRAARSLGERTVTELILQHQNPQQLSSNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLF
  VVQRLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAP
  DQWSSLLYGDQSHKSHMQSIIDKLQTPASFAQSVQELTIALQRTGDPANLNRLRPHLELLANIDPSPDAPPPTWE
  QLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCRDMKQRGGCPRGASCTFAHSQEELEKFRKMN
  KRLVPRRPLSASLGQLNEVGLPSAAILPDEGAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKI
  DHLSSSAPGSPPDLLESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAA
  PPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQQYPPIYPSHYDGRRV
  YPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYPVAPHPTQIRPSYLREPPYSRLPPPPQPHPS
  LDELHRRRKEIMAQLEERKVISPPPFAPSPTLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTK
  DAKPKDVVAAGSVEMMNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMA
  PQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPSAEREQLRLELQQLNH
  QISQQTQLRGLEAVSNRLVLQREANTLAGQSQPPPPPPPKWPGMISSEQLSLELHQVEREIGKRTRELSMENQCS
  LDMKSKLNTSKQAENGQPEPQNKVPAEDLTLTFSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRS
  GVTPSSAP

• Structural information:
  • Interpro: IPR032671  IPR041523  IPR027370  IPR000571  IPR036855   IPR001841  IPR013083  IPR017907  
  • Prosite: PS50103 PS00518 PS50089
  • PDB: 3X1O 4QIK 4QIL 4ULW 4YWQ
  • PDBsum: 3X1O 4QIK 4QIL 4ULW 4YWQ
  • STRING: ENSP00000356669
• Other Databases: GeneCards:  RC3H1  Malacards:  RC3H1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IDA	biological process
GO:0035613	RNA stem-loop binding	ISS	molecular function
GO:0000288	nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	ISS	biological process
GO:0035198	miRNA binding	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0071347	cellular response to interleukin-1	ISS	biological process
GO:0061158	3'-UTR-mediated mRNA destabilization	ISS	biological process
GO:0061014	positive regulation of mRNA catabolic process	ISS	biological process
GO:2000320	negative regulation of T-helper 17 cell differentiation	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:2000628	regulation of miRNA metabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042129	regulation of T cell proliferation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050863	regulation of T cell activation	IEA	biological process
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000288	nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IEA	biological process
GO:0000932	P-body	IEA	cellular component
GO:0002634	regulation of germinal center formation	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0030889	negative regulation of B cell proliferation	IEA	biological process
GO:0035198	miRNA binding	IEA	molecular function
GO:0035613	RNA stem-loop binding	IEA	molecular function
GO:0042098	T cell proliferation	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043488	regulation of mRNA stability	IEA	biological process
GO:0046007	negative regulation of activated T cell proliferation	IEA	biological process
GO:0050856	regulation of T cell receptor signaling pathway	IEA	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0002635	negative regulation of germinal center formation	IEA	biological process
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0033962	cytoplasmic mRNA processing body assembly	IEA	biological process
GO:0045623	negative regulation of T-helper cell differentiation	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0061014	positive regulation of mRNA catabolic process	IEA	biological process
GO:0061158	3'-UTR-mediated mRNA destabilization	IEA	biological process
GO:0061470	T follicular helper cell differentiation	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:2000320	negative regulation of T-helper 17 cell differentiation	IEA	biological process
GO:2000628	regulation of miRNA metabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0003730	mRNA 3'-UTR binding	ISS	molecular function
GO:0000932	P-body	ISS	cellular component
GO:0002634	regulation of germinal center formation	ISS	biological process
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0030889	negative regulation of B cell proliferation	ISS	biological process
GO:0043488	regulation of mRNA stability	ISS	biological process
GO:0046007	negative regulation of activated T cell proliferation	ISS	biological process
GO:0050856	regulation of T cell receptor signaling pathway	ISS	biological process
GO:0000956	nuclear-transcribed mRNA catabolic process	ISS	biological process
GO:0002635	negative regulation of germinal center formation	ISS	biological process
GO:0010608	posttranscriptional regulation of gene expression	ISS	biological process
GO:0033962	cytoplasmic mRNA processing body assembly	ISS	biological process
GO:0045623	negative regulation of T-helper cell differentiation	ISS	biological process
GO:0000932	P-body	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)