RNF114 ring finger protein 114 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF114provided by HGNC
Official Full Name: ring finger protein 114provided by HGNC
Primary source: HGNC:HGNC:13094
See related: Ensembl:ENSG00000124226 MIM:612451; AllianceGenome:HGNC:13094
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNF313; PSORS12
Summary: Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol and plasma membrane. Biomarker of male infertility. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 40.7), spleen (RPKM 29.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (49936397..49953885)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (51705851..51723357)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (48552934..48570422)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer.
Title: RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer.
E3 ubiquitin ligase RNF114 promotes vesicular stomatitis virus replication via inhibiting type I interferon production.
Title: E3 ubiquitin ligase RNF114 promotes vesicular stomatitis virus replication via inhibiting type I interferon production.
RNF114 is a new partner of A2O involved in the regulation of NF-kappaB activity that contributes to the control of signaling pathways modulating T cell-mediated immune response.
Title: The RING ubiquitin E3 RNF114 interacts with A20 and modulates NF-κB activity and T-cell activation.
XAF1 stimulates HIPK2-mediated Ser-46 phosphorylation of p53 and XAF1 also steps up the termination of p53-mediated cell-cycle arrest by activating ZNF313.
Title: XAF1 directs apoptotic switch of p53 signaling through activation of HIPK2 and ZNF313.
RNF114 over-expression had a promotion effect on T cell activation with an average 43.97% increment and the upregulatory roles showed a dose-dependent effect with 18.44% increment.
Title: Identification of RNF114 as a novel positive regulatory protein for T cell activation.
A single nucleotide plymorphism had an association with psoriasis in this Chinese Uygur population: SNP rs495337 in the gene encoding for zinc finger protein 313 (P < 0.001; OR = 0.80)
Title: Genetic variants of the genes encoding zinc finger protein 313 and interleukin-13 confer a risk for psoriasis in a Chinese Uygur population.
ZNF313 is a novel cell cycle activator with an E3 ligase activity inhibiting cellular senescence by destabilizing p21(WAF1.).
Title: ZNF313 is a novel cell cycle activator with an E3 ligase activity inhibiting cellular senescence by destabilizing p21(WAF1.).
Rare disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene have been identified.
Title: Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene.
RNF114 regulates a positive feedback loop that enhances double-stranded RNA induced production of type I interferon.
Title: Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association analysis identifies three psoriasis susceptibility loci.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies three psoriasis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH79656 (e-PCR)
- UniSTS:91404

RH64159 (e-PCR)
- UniSTS:68641

D10S16 (e-PCR)
- UniSTS:155756

D20S584E (e-PCR)
- UniSTS:56944

D1S1425 (e-PCR)
- UniSTS:149621

WI-12090 (e-PCR)
- UniSTS:34179

D20S134E (e-PCR)
- UniSTS:473005

RH11676 (e-PCR)
- UniSTS:48351

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation 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

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	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 cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF114

Names: RING-type E3 ubiquitin transferase RNF114; zinc finger protein 228; zinc finger protein 313

NP_061153.1

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_018683.4 → NP_061153.1 E3 ubiquitin-protein ligase RNF114

See identical proteins and their annotated locations for NP_061153.1

Status: VALIDATED

Source sequence(s)

AF131742, AK091976, BC013695, BM830132

Consensus CDS

CCDS33482.1

UniProtKB/Swiss-Prot

B2RDQ9, B4DWY5, E1P627, Q6N0B0, Q9Y508

UniProtKB/TrEMBL

A0A096LNV3

Related

ENSP00000244061.2, ENST00000244061.6

Conserved Domains (2) summary

pfam05605
Location:140 → 200

zf-Di19; Drought induced 19 protein (Di19), zinc-binding

cd16540
Location:27 → 68

RING-HC_RNF114; RING finger, HC subclass, found in RING finger protein 114 (RNF114) and similar proteins