RC3H1 - ring finger and CCCH-type domains 1 Gene

Also Known as FHL6; IMDSHY; RNF198; ROQUIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 149041

About RC3H1

Cytogenetic location: 1q25.1 Genomic coordinates (GRCh38): 1:173,931,084-174,022,357 (from NCBI)

This gene has 6 transcripts (splice variants), 237 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 7.1), skin (RPKM 3.9) and 25 other tissues.

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

RC3H1 Products (4)

mRNA Protein Name
NM_001300850.1 NP_001287779.1 roquin-1 isoform a
NM_001300851.1 NP_001287780.1 roquin-1 isoform c
NM_001300852.1 NP_001287781.1 roquin-1 isoform d
NM_172071.4 NP_742068.1 roquin-1 isoform b

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables CCR4-NOT complex binding IMP
IMP: Inferred from mutant phenotype
31636267 GOA
enables RNA stem-loop binding IDA
IDA: Inferred from direct assay
25504471 GOA
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
25026078 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25697406 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
26489670 GOA
Biological Process GO Annotation Evidence Références Source
involved in nuclear-transcribed mRNA catabolic process IDA
IDA: Inferred from direct assay
25026078 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
26489670 GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IMP
IMP: Inferred from mutant phenotype
31636267 GOA
Cellular Component GO Annotation Evidence Références Source
located in P-body IMP
IMP: Inferred from mutant phenotype
31636267 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RC3H1 Protein Structure

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (414 - 440)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1133 a.a.
Protein Preferred Names Protein Names

roquin-1

  • RING finger and C3H zinc finger protein 1

Related Diseases

Diseases Alias
Immune Dysregulation And Systemic Hyperinflammation Syndrome

  • Hemophagocytic Lymphohistiocytosis, Familial, 6

  • IMDYSHI

  • Hemophagocytic Lymphohistiocytosis, Familial, 6, Formerly

  • Fhl6, Formerly

  • Fhl6
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS11777 RC3H1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus RC3H1 VGNC VGNC:106891
Felis catus RC3H1 VGNC VGNC:64540
Mus musculus RC3H1 MGD MGI:2685397
Canis familiaris RC3H1 VGNC VGNC:45435
Macaca mulatta RC3H1 VGNC VGNC:76861
Rattus norvegicus RC3H1 RGD RGD:1563512
Others RC3H1 NCBI