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RC3H1 (ring finger and CCCH-type domains 1)

Identity

Alias_namesring finger and CCCH-type zinc finger domains 1
Alias_symbol (synonym)KIAA2025
roquin
RP5-1198E17.5
RNF198
Other aliasROQUIN
HGNC (Hugo) RC3H1
LocusID (NCBI) 149041
Atlas_Id 56174
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 173931084 and ends at 173993072 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RC3H1 (1q25.1) / MTMR6 (13q12.13)RC3H1 (1q25.1) / RC3H1 (1q25.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RC3H1   29434
Cards
Entrez_Gene (NCBI)RC3H1  149041  ring finger and CCCH-type domains 1
AliasesRNF198; ROQUIN
GeneCards (Weizmann)RC3H1
Ensembl hg19 (Hinxton)ENSG00000135870 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135870 [Gene_View]  chr1:173931084-173993072 [Contig_View]  RC3H1 [Vega]
ICGC DataPortalENSG00000135870
TCGA cBioPortalRC3H1
AceView (NCBI)RC3H1
Genatlas (Paris)RC3H1
WikiGenes149041
SOURCE (Princeton)RC3H1
Genetics Home Reference (NIH)RC3H1
Genomic and cartography
GoldenPath hg38 (UCSC)RC3H1  -     chr1:173931084-173993072 -  1q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RC3H1  -     1q25.1   [Description]    (hg19-Feb_2009)
EnsemblRC3H1 - 1q25.1 [CytoView hg19]  RC3H1 - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBIRC3H1 [Mapview hg19]  RC3H1 [Mapview hg38]
OMIM609424   
Gene and transcription
Genbank (Entrez)AB095945 AK093501 AK122948 AY726570 BC136784
RefSeq transcript (Entrez)NM_001300850 NM_001300851 NM_001300852 NM_172071
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RC3H1
Cluster EST : UnigeneHs.30258 [ NCBI ]
CGAP (NCI)Hs.30258
Alternative Splicing GalleryENSG00000135870
Gene ExpressionRC3H1 [ NCBI-GEO ]   RC3H1 [ EBI - ARRAY_EXPRESS ]   RC3H1 [ SEEK ]   RC3H1 [ MEM ]
Gene Expression Viewer (FireBrowse)RC3H1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)149041
GTEX Portal (Tissue expression)RC3H1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TC82   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TC82  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TC82
Splice isoforms : SwissVarQ5TC82
PhosPhoSitePlusQ5TC82
Domaine pattern : Prosite (Expaxy)ZF_C3H1 (PS50103)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)RC3H1    Znf-RING_LisH    Znf_CCCH    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)zf-CCCH (PF00642)    zf-RING_UBOX (PF13445)   
Domain families : Pfam (NCBI)pfam00642    pfam13445   
Domain families : Smart (EMBL)RING (SM00184)  ZnF_C3H1 (SM00356)  
Conserved Domain (NCBI)RC3H1
DMDM Disease mutations149041
Blocks (Seattle)RC3H1
PDB (SRS)3X1O    4QIK    4QIL    4ULW    4YWQ   
PDB (PDBSum)3X1O    4QIK    4QIL    4ULW    4YWQ   
PDB (IMB)3X1O    4QIK    4QIL    4ULW    4YWQ   
PDB (RSDB)3X1O    4QIK    4QIL    4ULW    4YWQ   
Structural Biology KnowledgeBase3X1O    4QIK    4QIL    4ULW    4YWQ   
SCOP (Structural Classification of Proteins)3X1O    4QIK    4QIL    4ULW    4YWQ   
CATH (Classification of proteins structures)3X1O    4QIK    4QIL    4ULW    4YWQ   
SuperfamilyQ5TC82
Human Protein AtlasENSG00000135870
Peptide AtlasQ5TC82
HPRD13913
IPIIPI00640426   IPI00216992   
Protein Interaction databases
DIP (DOE-UCLA)Q5TC82
IntAct (EBI)Q5TC82
FunCoupENSG00000135870
BioGRIDRC3H1
STRING (EMBL)RC3H1
ZODIACRC3H1
Ontologies - Pathways
QuickGOQ5TC82
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  P-body  nuclear-transcribed mRNA catabolic process  B cell homeostasis  regulation of germinal center formation  negative regulation of germinal center formation  RNA binding  mRNA 3'-UTR binding  zinc ion binding  cytoplasmic stress granule  posttranscriptional regulation of gene expression  protein ubiquitination  negative regulation of B cell proliferation  cytoplasmic mRNA processing body assembly  RNA stem-loop binding  T cell proliferation  T cell homeostasis  regulation of mRNA stability  negative regulation of T-helper cell differentiation  negative regulation of activated T cell proliferation  lymph node development  spleen development  regulation of T cell receptor signaling pathway  positive regulation of mRNA catabolic process  3'-UTR-mediated mRNA destabilization  T follicular helper cell differentiation  ubiquitin protein ligase activity  cellular response to interleukin-1  positive regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  P-body  nuclear-transcribed mRNA catabolic process  B cell homeostasis  regulation of germinal center formation  negative regulation of germinal center formation  RNA binding  mRNA 3'-UTR binding  zinc ion binding  cytoplasmic stress granule  posttranscriptional regulation of gene expression  protein ubiquitination  negative regulation of B cell proliferation  cytoplasmic mRNA processing body assembly  RNA stem-loop binding  T cell proliferation  T cell homeostasis  regulation of mRNA stability  negative regulation of T-helper cell differentiation  negative regulation of activated T cell proliferation  lymph node development  spleen development  regulation of T cell receptor signaling pathway  positive regulation of mRNA catabolic process  3'-UTR-mediated mRNA destabilization  T follicular helper cell differentiation  ubiquitin protein ligase activity  cellular response to interleukin-1  positive regulation of NIK/NF-kappaB signaling  
NDEx NetworkRC3H1
Atlas of Cancer Signalling NetworkRC3H1
Wikipedia pathwaysRC3H1
Orthology - Evolution
OrthoDB149041
GeneTree (enSembl)ENSG00000135870
Phylogenetic Trees/Animal Genes : TreeFamRC3H1
HOVERGENQ5TC82
HOGENOMQ5TC82
Homologs : HomoloGeneRC3H1
Homology/Alignments : Family Browser (UCSC)RC3H1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRC3H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RC3H1
dbVarRC3H1
ClinVarRC3H1
1000_GenomesRC3H1 
Exome Variant ServerRC3H1
ExAC (Exome Aggregation Consortium)RC3H1 (select the gene name)
Genetic variants : HAPMAP149041
Genomic Variants (DGV)RC3H1 [DGVbeta]
DECIPHERRC3H1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRC3H1 
Mutations
ICGC Data PortalRC3H1 
TCGA Data PortalRC3H1 
Broad Tumor PortalRC3H1
OASIS PortalRC3H1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRC3H1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRC3H1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RC3H1
DgiDB (Drug Gene Interaction Database)RC3H1
DoCM (Curated mutations)RC3H1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RC3H1 (select a term)
intoGenRC3H1
Cancer3DRC3H1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609424   
Orphanet
MedgenRC3H1
Genetic Testing Registry RC3H1
NextProtQ5TC82 [Medical]
TSGene149041
GENETestsRC3H1
Target ValidationRC3H1
Huge Navigator RC3H1 [HugePedia]
snp3D : Map Gene to Disease149041
BioCentury BCIQRC3H1
ClinGenRC3H1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD149041
Chemical/Pharm GKB GenePA142671090
Clinical trialRC3H1
Miscellaneous
canSAR (ICR)RC3H1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRC3H1
EVEXRC3H1
GoPubMedRC3H1
iHOPRC3H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:52:50 CEST 2017

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