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

Gene ID: 55905, updated on 10-Dec-2024

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, Dec 2024]
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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding  
enables protein binding PubMed 
enables ubiquitin protein ligase activity  
Process Evidence Code Pubs
involved_in cell differentiation  
involved_in protein polyubiquitination  
involved_in spermatogenesis  
involved_in ubiquitin-dependent protein catabolic process  
Component Evidence Code Pubs
located_in cytosol  
located_in cytosol  
located_in nucleus  
located_in plasma membrane  

General protein information

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_018683.4NP_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:140200
    zf-Di19; Drought induced 19 protein (Di19), zinc-binding
    cd16540
    Location:2768
    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)
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