RC3H1 ring finger and CCCH-type domains 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RC3H1provided by HGNC
Official Full Name: ring finger and CCCH-type domains 1provided by HGNC
Primary source: HGNC:HGNC:29434
See related: Ensembl:ENSG00000135870 MIM:609424; AllianceGenome:HGNC:29434
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FHL6; IMDSHY; RNF198; ROQUIN
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]
Expression: Ubiquitous expression in bone marrow (RPKM 7.1), skin (RPKM 3.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (173931084..174022357, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (173289302..173380330, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (173900222..173991495, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Combined disruption of T cell inflammatory regulators Regnase-1 and Roquin-1 enhances antitumor activity of engineered human T cells.
Title: Combined disruption of T cell inflammatory regulators Regnase-1 and Roquin-1 enhances antitumor activity of engineered human T cells.
miR-150 promotes progressive T cell differentiation via inhibiting FOXP1 and RC3H1.
Title: miR-150 promotes progressive T cell differentiation via inhibiting FOXP1 and RC3H1.
Dynamic Regulation of the Nexus Between Stress Granules, Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of Warfare Vesicants.
Title: Dynamic Regulation of the Nexus Between Stress Granules, Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of Warfare Vesicants.
Roquin1 inhibits the proliferation of breast cancer cells by inducing G1/S cell cycle arrest via selectively destabilizing the mRNAs of cell cycle-promoting genes.
Title: Roquin1 inhibits the proliferation of breast cancer cells by inducing G1/S cell cycle arrest via selectively destabilizing the mRNAs of cell cycle-promoting genes.
MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle progression of cervical cancer cells via activating the NF-kappaB signaling.
Title: MAP7 interacts with RC3H1 and cooperatively regulate cell-cycle progression of cervical cancer cells via activating the NF-κB signaling.
Structural basis for the recognition of transiently structured AU-rich elements by Roquin.
Title: Structural basis for the recognition of transiently structured AU-rich elements by Roquin.
Transcriptome profiling revealed Roquin-dependent global downregulation of proinflammatory cytokines and antiviral genes in by human cytomegalovirus infected cells. IFN regulatory factor 1 (IRF1), a master transcriptional activator of immune responses, identified as a Roquin target gene. Roquin reduces IRF1 expression by directly binding to its mRNA, thereby enabling suppression of a variety of antiviral genes.
Title: Human cytomegalovirus induces and exploits Roquin to counteract the IRF1-mediated antiviral state.
analysis of previously unknown cis-regulatory elements in Roquin protein
Title: Identification of new high affinity targets for Roquin based on structural conservation.
Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
Title: Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.
RC3H1 is a multifunctional regulator of immune homeostasis. (Review)
Title: Roquin--a multifunctional regulator of immune homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hemophagocytic lymphohistiocytosis, familial, 6 MedGen: C5436563 OMIM: 618998 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D1S2558 (e-PCR)
- UniSTS:41997

RH47358 (e-PCR)
- UniSTS:15149

G34833 (e-PCR)
- UniSTS:48193

G62976 (e-PCR)
- UniSTS:140101

SHGC-36961 (e-PCR)
- UniSTS:45155

SHGC-112502 (e-PCR)
- UniSTS:168645

SHGC-68518 (e-PCR)
- UniSTS:95445

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CCR4-NOT complex binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA stem-loop binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA stem-loop binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA stem-loop binding	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables miRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA destabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in P-body assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in T follicular helper cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-1	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymph node development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 17 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of activated T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of germinal center formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear-transcribed mRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in post-transcriptional regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of germinal center formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mRNA stability	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of miRNA metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in P-body	IMP Inferred from Mutant Phenotype more info	PubMed
located_in P-body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: roquin-1

Names: RING finger and C3H zinc finger protein 1; RING finger and CCCH-type zinc finger domain-containing protein 1; RING finger protein 198; probable E3 ubiquitin-protein ligase Roquin

NP_001287779.1

EC 2.3.2.27

NP_001287780.1

EC 2.3.2.27

NP_001287781.1

EC 2.3.2.27

NP_742068.1

EC 2.3.2.27

XP_005244978.1

EC 2.3.2.27

XP_047303045.1

EC 2.3.2.27

XP_047303046.1

EC 2.3.2.27

XP_047303047.1

EC 2.3.2.27

XP_047303048.1

EC 2.3.2.27

XP_047303049.1

EC 2.3.2.27

XP_047303050.1

EC 2.3.2.27

XP_047303051.1

EC 2.3.2.27

XP_047303052.1

EC 2.3.2.27

XP_047303053.1

EC 2.3.2.27

XP_047303057.1

EC 2.3.2.27

XP_047303058.1

EC 2.3.2.27

XP_047303059.1

EC 2.3.2.27

XP_047303060.1

EC 2.3.2.27

XP_047303061.1

EC 2.3.2.27

XP_047303062.1

EC 2.3.2.27

XP_054190589.1

EC 2.3.2.27

XP_054190590.1

EC 2.3.2.27

XP_054190591.1

EC 2.3.2.27

XP_054190592.1

EC 2.3.2.27

XP_054190593.1

EC 2.3.2.27

XP_054190594.1

EC 2.3.2.27

XP_054190595.1

EC 2.3.2.27

XP_054190596.1

EC 2.3.2.27

XP_054190597.1

EC 2.3.2.27

XP_054190598.1

EC 2.3.2.27

XP_054190599.1

EC 2.3.2.27

XP_054190600.1

EC 2.3.2.27

XP_054190601.1

EC 2.3.2.27

XP_054190602.1

EC 2.3.2.27

XP_054190603.1

EC 2.3.2.27

XP_054190604.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001300850.1 → NP_001287779.1 roquin-1 isoform a

See identical proteins and their annotated locations for NP_001287779.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK122948, AL136170, BC136784

UniProtKB/TrEMBL

B7ZMB3, B9EGU6

Conserved Domains (2) summary

smart00184
Location:14 → 52

RING; Ring finger

pfam00642
Location:414 → 440

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
NM_001300851.1 → NP_001287780.1 roquin-1 isoform c

See identical proteins and their annotated locations for NP_001287780.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AK122948, AL136170

Consensus CDS

CCDS72987.1

UniProtKB/TrEMBL

B7ZMB3

Related

ENSP00000356667.2, ENST00000367694.2

Conserved Domains (2) summary

smart00184
Location:14 → 52

RING; Ring finger

pfam00642
Location:414 → 440

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
NM_001300852.1 → NP_001287781.1 roquin-1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AK122948, AL136170, BC144408

UniProtKB/TrEMBL

B7ZMB3

Conserved Domains (2) summary

smart00184
Location:14 → 52

RING; Ring finger

pfam00642
Location:414 → 440

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
NM_172071.4 → NP_742068.1 roquin-1 isoform b

See identical proteins and their annotated locations for NP_742068.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AB095945, AL121983, AL136170

Consensus CDS

CCDS30940.1

UniProtKB/Swiss-Prot

B3KVK1, Q5TC82, Q5W180, Q5W181, Q8IVE6, Q8N9V1

UniProtKB/TrEMBL

B7ZMB3

Related

ENSP00000356669.2, ENST00000367696.7

Conserved Domains (2) summary

smart00184
Location:14 → 52

RING; Ring finger

pfam00642
Location:414 → 440

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)