RC3H1 - ring finger and CCCH-type domains 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

0
200
400
600
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11777	RC3H1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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