2. Gene
  3. RC3H1 - ring finger and CCCH-type domains 1 Gene

RC3H1 - ring finger and CCCH-type domains 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FHL6; IMDSHY; RNF198; ROQUIN

Gene ID: 149041 | Gene type: protein coding

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

RC3H1 Protein Structure

zf-CCCH

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

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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11777 RC3H1 Human Pre-designed siRNA Set A / 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