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

Gene ID: 55905, updated on 5-Mar-2024

Summary

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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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 40.7), spleen (RPKM 29.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.13
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49936397..49953885)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51705851..51723357)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48552934..48570422)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 2 Neighboring gene Sharpr-MPRA regulatory region 10189 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18077 Neighboring gene uncharacterized LOC105372653 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60723 Neighboring gene Sharpr-MPRA regulatory region 9917 Neighboring gene MPRA-validated peak4247 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48552583-48553188 Neighboring gene Sharpr-MPRA regulatory region 103 Neighboring gene Sharpr-MPRA regulatory region 7979 Neighboring gene Sharpr-MPRA regulatory region 5689 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60738 Neighboring gene Sharpr-MPRA regulatory region 11781 Neighboring gene keratin 18 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48582740-48583331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48583332-48583922 Neighboring gene RNA, U6 small nuclear 147, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. E3 ubiquitin ligase RNF114 promotes vesicular stomatitis virus replication via inhibiting type I interferon production. Han W, et al. Microb Pathog, 2022 Jun. PMID 35545202
  2. Identification of RNF114 as a novel positive regulatory protein for T cell activation. Yang P, et al. Immunobiology, 2014 Jun. PMID 24631332
  3. Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene. Onoufriadis A, et al. J Invest Dermatol, 2012 Apr. PMID 22205304
  4. Sp1 plays an important role in regulating the transcription of ZNF313. Liao X, et al. Cell Biol Int, 2010 Sep. PMID 20515446
  5. XAF1 drives apoptotic switch of endoplasmic reticulum stress response through destabilization of GRP78 and CHIP. Lee KW, et al. Cell Death Dis, 2022 Jul 28. PMID 35902580, Free PMC Article

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer.
    Title: RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.).
  8. 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.
  9. 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.
  10. 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
Genome-wide association analysis identifies three psoriasis susceptibility loci.
EBI GWAS Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    49936397..49953885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    51705851..51723357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y508.1 GenPept UniProtKB/Swiss-Prot:Q9Y508

Gene LinkOut

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