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Aliases for RC3H1 Gene

Aliases for RC3H1 Gene

  • Ring Finger And CCCH-Type Domains 1 2 3
  • RING Finger And CCCH-Type Zinc Finger Domain-Containing Protein 1 3 4
  • RING Finger And C3H Zinc Finger Protein 1 3 4
  • RING Finger Protein 198 3 4
  • KIAA2025 4 6
  • ROQUIN 3 4
  • RNF198 3 4
  • Ring Finger And CCCH-Type Zinc Finger Domains 1 2
  • Probable E3 Ubiquitin-Protein Ligase Roquin 3
  • KIAA2025 Protein 2
  • Roquin-1 3

External Ids for RC3H1 Gene

Previous GeneCards Identifiers for RC3H1 Gene

  • GC01M170638
  • GC01M172166
  • GC01M173900
  • GC01M145125

Summaries for RC3H1 Gene

Entrez Gene Summary for RC3H1 Gene

  • 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 results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for RC3H1 Gene

RC3H1 (Ring Finger And CCCH-Type Domains 1) is a Protein Coding gene. GO annotations related to this gene include ubiquitin-protein transferase activity and mRNA 3-UTR binding. An important paralog of this gene is RC3H2.

UniProtKB/Swiss-Prot for RC3H1 Gene

  • 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 and in many more mRNAs (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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RC3H1 Gene

Genomics for RC3H1 Gene

Regulatory Elements for RC3H1 Gene

Genomic Location for RC3H1 Gene

Start:
173,919,053 bp from pter
End:
174,022,297 bp from pter
Size:
103,245 bases
Orientation:
Minus strand

Genomic View for RC3H1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RC3H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RC3H1 Gene

Proteins for RC3H1 Gene

  • Protein details for RC3H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TC82-RC3H1_HUMAN
    Recommended name:
    Roquin-1
    Protein Accession:
    Q5TC82
    Secondary Accessions:
    • B3KVK1
    • Q5W180
    • Q5W181
    • Q8IVE6
    • Q8N9V1

    Protein attributes for RC3H1 Gene

    Size:
    1133 amino acids
    Molecular mass:
    125736 Da
    Quaternary structure:
    • Interacts with DDX6 and EDC4. Interacts with CCR4-NOT deadenylase complex.
    Miscellaneous:
    • The RING finger is highly conserved among the paralogs and among species, suggesting it may possess E3 ubiquitin ligase activity. A C. elegans homolog, rle-1, is involved in daf-16 ubiquitin-dependent degradation. Although such an activity has not be observed in mammalian cells so far, it is conceivable that RC3H1 may utilize E3 ubiquitin ligase activity in the promotion of mRNA decay (PubMed:23550652).
    SequenceCaution:
    • Sequence=BAC04186.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70709.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70710.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19417.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19419.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RC3H1 Gene

    Alternative splice isoforms for RC3H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RC3H1 Gene

Proteomics data for RC3H1 Gene at MOPED

Post-translational modifications for RC3H1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RC3H1 Gene

No data available for DME Specific Peptides for RC3H1 Gene

Domains for RC3H1 Gene

Gene Families for RC3H1 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers
  • ZC3H :Zinc fingers, CCCH-type domain containing

Protein Domains for RC3H1 Gene

Suggested Antigen Peptide Sequences for RC3H1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TC82

UniProtKB/Swiss-Prot:

RC3H1_HUMAN :
  • Q5TC82
Domain:
  • The RING-type zinc finger is required for proper localization to stress granules, but not to P-bodies.
  • The ROQ region is required for CDE RNA-binding. It may also be involved in localization to stress granules.
Similarity:
  • Contains 1 C3H1-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RC3H1: view

Function for RC3H1 Gene

Molecular function for RC3H1 Gene

UniProtKB/Swiss-Prot 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 and in many more mRNAs (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).

Gene Ontology (GO) - Molecular Function for RC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding --
GO:0003730 mRNA 3-UTR binding ISS --
GO:0004842 ubiquitin-protein transferase activity --
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with RC3H1: view
genes like me logo Genes that share phenotypes with RC3H1: view

Animal Models for RC3H1 Gene

MGI Knock Outs for RC3H1:

miRNA for RC3H1 Gene

miRTarBase miRNAs that target RC3H1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RC3H1 Gene

Localization for RC3H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RC3H1 Gene

Cytoplasm, P-body. Note=During stress, such as that induced by arsenite, localizes to cytosolic stress granules. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RC3H1 Gene COMPARTMENTS Subcellular localization image for RC3H1 gene
Compartment Confidence
cytosol 3
golgi apparatus 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for RC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 cytoplasmic mRNA processing body ISS --
GO:0005737 cytoplasm --
GO:0010494 cytoplasmic stress granule ISS --
genes like me logo Genes that share ontologies with RC3H1: view

Pathways for RC3H1 Gene

SuperPathways for RC3H1 Gene

No Data Available

Interacting Proteins for RC3H1 Gene

Gene Ontology (GO) - Biological Process for RC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000956 nuclear-transcribed mRNA catabolic process ISS --
GO:0001782 B cell homeostasis IEA --
GO:0002634 regulation of germinal center formation ISS --
GO:0002635 negative regulation of germinal center formation ISS --
GO:0010468 regulation of gene expression --
genes like me logo Genes that share ontologies with RC3H1: view

No data available for Pathways by source for RC3H1 Gene

Transcripts for RC3H1 Gene

Unigene Clusters for RC3H1 Gene

Ring finger and CCCH-type domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RC3H1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ·
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:

ExUns: 19d
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for RC3H1 Gene

GeneLoc Exon Structure for
RC3H1
ECgene alternative splicing isoforms for
RC3H1

Expression for RC3H1 Gene

mRNA expression in normal human tissues for RC3H1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RC3H1 Gene

SOURCE GeneReport for Unigene cluster for RC3H1 Gene Hs.30258

mRNA Expression by UniProt/SwissProt for RC3H1 Gene

Q5TC82-RC3H1_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in cerebellum, spleen, ovary and liver.
genes like me logo Genes that share expressions with RC3H1: view

No data available for mRNA differential expression in normal tissues for RC3H1 Gene

Orthologs for RC3H1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RC3H1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RC3H1 35
  • 99.79 (n)
  • 99.91 (a)
RC3H1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RC3H1 35
  • 93.4 (n)
  • 96.91 (a)
RC3H1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rc3h1 35
  • 90.06 (n)
  • 93.45 (a)
Rc3h1 16
Rc3h1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RC3H1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RC3H1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves RC3H1 35
  • 81.9 (n)
  • 89 (a)
RC3H1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RC3H1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rc3h1 35
  • 73.39 (n)
  • 81.44 (a)
Str.18090 35
zebrafish
(Danio rerio)
Actinopterygii rc3h1 36
  • 63 (a)
OneToMany
RC3H1 (2 of 2) 36
  • 67 (a)
OneToMany
si:dkey-60b12.1 35
  • 65.57 (n)
  • 69.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta roq 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rle-1 36
  • 30 (a)
OneToMany
Species with no ortholog for RC3H1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RC3H1 Gene

ENSEMBL:
Gene Tree for RC3H1 (if available)
TreeFam:
Gene Tree for RC3H1 (if available)

Paralogs for RC3H1 Gene

Paralogs for RC3H1 Gene

Selected SIMAP similar genes for RC3H1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RC3H1: view

Variants for RC3H1 Gene

Sequence variations from dbSNP and Humsavar for RC3H1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs724415 -- 173,935,746(-) AACAC(A/C)CCCAA utr-variant-3-prime, intron-variant
rs724416 -- 173,935,671(-) GGACA(A/G)ATGGC utr-variant-3-prime, intron-variant
rs767053 -- 173,934,599(+) CAGCA(A/G)GTTAC utr-variant-3-prime, intron-variant
rs997165 -- 173,973,086(+) AAAAA(C/T)TTCCC intron-variant
rs1142900 -- 173,979,522(+) gtggt(A/G)gtgca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RC3H1 Gene

Variant ID Type Subtype PubMed ID
dgv149e1 CNV Complex 17122850
nsv872550 CNV Loss 21882294
nsv872551 CNV Loss 21882294
esv22323 CNV Loss 19812545
esv2646154 CNV Deletion 19546169
esv2273536 CNV Deletion 18987734
esv4673 CNV Deletion 18987735
esv2719562 CNV Deletion 23290073
esv2668755 CNV Deletion 23128226
esv9249 CNV Loss 19470904
nsv831937 CNV Gain 17160897

Relevant External Links for RC3H1 Gene

HapMap Linkage Disequilibrium report
RC3H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RC3H1 Gene

Disorders for RC3H1 Gene

No disorders were found for RC3H1 Gene.

No data available for UniProtKB/Swiss-Prot for RC3H1 Gene

Publications for RC3H1 Gene

  1. A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity. (PMID: 15917799) Vinuesa C.G. … Goodnow C.C. (Nature 2005) 2 3 23
  2. Roquin differentiates the specialized functions of duplicated T cell costimulatory receptor genes CD28 and ICOS. (PMID: 19217324) Linterman M.A. … Vinuesa C.G. (Immunity 2009) 3 23
  3. The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. (PMID: 20412057) Athanasopoulos V. … Vinuesa C.G. (FEBS J. 2010) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for RC3H1 Gene

Sources for RC3H1 Gene

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