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

    Gene ID: 55905, updated on 10-Dec-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, Dec 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

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    See RNF114 in Genome Data Viewer
    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_000020.11Genomic 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. RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer. Liu SC, et al. Pathol Res Pract, 2023 Aug. PMID 37523804
    2. 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
    3. Identification of RNF114 as a novel positive regulatory protein for T cell activation. Yang P, et al. Immunobiology, 2014 Jun. PMID 24631332
    4. 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
    5. Sp1 plays an important role in regulating the transcription of ZNF313. Liao X, et al. Cell Biol Int, 2010 Sep. PMID 20515446

    See all (76) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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