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Aliases for RNF125 Gene

Aliases for RNF125 Gene

  • Ring Finger Protein 125 2 3
  • Ring Finger Protein 125, E3 Ubiquitin Protein Ligase 2 3
  • T-Cell RING Activation Protein 1 3 4
  • RING Finger Protein 125 4 5
  • TRAC-1 3 4
  • T-Cell Ring Protein Identified In Activation Screen 3
  • E3 Ubiquitin-Protein Ligase RNF125 3
  • EC 6.3.2.- 4
  • TRAC1 3
  • TNORS 3

External Ids for RNF125 Gene

Previous GeneCards Identifiers for RNF125 Gene

  • GC18P029486
  • GC18P027850
  • GC18P027852
  • GC18P029598
  • GC18P026455

Summaries for RNF125 Gene

Entrez Gene Summary for RNF125 Gene

  • This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

GeneCards Summary for RNF125 Gene

RNF125 (Ring Finger Protein 125) is a Protein Coding gene. Diseases associated with RNF125 include Tenorio Syndrome. Among its related pathways are Immune System and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is RNF114.

UniProtKB/Swiss-Prot for RNF125 Gene

  • E3 ubiquitin-protein ligase that acts as a positive regulator of T-cell activation. E3 ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for RNF125 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF125 Gene

Genomics for RNF125 Gene

Regulatory Elements for RNF125 Gene

Enhancers for RNF125 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F032017 0.9 FANTOM5 ENCODE 24.6 +0.9 930 3.9 ATF1 MLX ARID4B SIN3A FEZF1 ZNF48 YY1 GTF3C2 ZNF121 GLIS2 RNF125 ENSG00000263924 TRAPPC8 RNF138 ENSG00000263917 ENSG00000274275
GH18F032039 0.5 Ensembl ENCODE 13.1 +23.8 23751 4.9 MEF2D MYC SPI1 RNF125 TRAPPC8 RNU6-1050P HMGN2P44 GC18M032052
GH18F031984 0.2 ENCODE 13 -34.1 -34061 0.1 RNF125 TRAPPC8 RNU6-1050P ENSG00000280380
GH18F031982 0.2 ENCODE 13 -35.2 -35211 0.9 PKNOX1 ATF3 HNF4G ZBTB33 RAD21 ZNF7 YY1 RNF125 TRAPPC8 RNU6-1050P ENSG00000280380
GH18F032091 0.2 ENCODE 5.2 +74.8 74847 4.0 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF548 KLF13 LOC100287539 PGDP1 WBP11P1 ENSG00000263450 ENSG00000263924 ENSG00000263393 RNF138 RNF125 B4GALT6 LOC107985133
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RNF125 on UCSC Golden Path with GeneCards custom track

Promoters for RNF125 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000667862 977 2801 MLX ZNF133 ARID4B SIN3A FEZF1 ZNF48 YY1 GTF3C2 ZNF121 GLIS2

Genomic Location for RNF125 Gene

Chromosome:
18
Start:
32,018,223 bp from pter
End:
32,088,528 bp from pter
Size:
70,306 bases
Orientation:
Plus strand

Genomic View for RNF125 Gene

Genes around RNF125 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF125 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF125 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF125 Gene

Proteins for RNF125 Gene

  • Protein details for RNF125 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EQ8-RN125_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF125
    Protein Accession:
    Q96EQ8
    Secondary Accessions:
    • Q9NX39

    Protein attributes for RNF125 Gene

    Size:
    232 amino acids
    Molecular mass:
    26454 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RNF125 Gene

neXtProt entry for RNF125 Gene

Post-translational modifications for RNF125 Gene

  • Autoubiquitinated, leading to its subsequent proteasomal degradation.
  • Ubiquitination at Lys 69 and Lys 91
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF125 Gene

No data available for DME Specific Peptides for RNF125 Gene

Domains & Families for RNF125 Gene

Gene Families for RNF125 Gene

Protein Domains for RNF125 Gene

Suggested Antigen Peptide Sequences for RNF125 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EQ8

UniProtKB/Swiss-Prot:

RN125_HUMAN :
  • Contains 1 C2HC RNF-type zinc finger.
Similarity:
  • Contains 1 C2HC RNF-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF125: view

Function for RNF125 Gene

Molecular function for RNF125 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that acts as a positive regulator of T-cell activation. E3 ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins.

Enzyme Numbers (IUBMB) for RNF125 Gene

Gene Ontology (GO) - Molecular Function for RNF125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA --
GO:0036435 K48-linked polyubiquitin binding IDA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF125: view
genes like me logo Genes that share phenotypes with RNF125: view

Human Phenotype Ontology for RNF125 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RNF125 Gene

Localization for RNF125 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF125 Gene

Golgi apparatus membrane; Lipid-anchor. Note=Shows a reticular staining pattern within the cell and is probably expressed at other intracellular membranes in addition to the Golgi membrane. Not detected at the plasma membrane. {ECO:0000269 PubMed:17990982}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF125 Gene COMPARTMENTS Subcellular localization image for RNF125 gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for RNF125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 17990982
GO:0005622 intracellular IBA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA 17990982
genes like me logo Genes that share ontologies with RNF125: view

Pathways & Interactions for RNF125 Gene

genes like me logo Genes that share pathways with RNF125: view

UniProtKB/Swiss-Prot Q96EQ8-RN125_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with RNF125: view

No data available for SIGNOR curated interactions for RNF125 Gene

Transcripts for RNF125 Gene

Unigene Clusters for RNF125 Gene

Ring finger protein 125, E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF125 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - -
SP2: - -
SP3: - -
SP4: - -

Relevant External Links for RNF125 Gene

GeneLoc Exon Structure for
RNF125
ECgene alternative splicing isoforms for
RNF125

Expression for RNF125 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF125 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF125 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RNF125 Gene



Protein tissue co-expression partners for RNF125 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF125 Gene:

RNF125

SOURCE GeneReport for Unigene cluster for RNF125 Gene:

Hs.633703

mRNA Expression by UniProt/SwissProt for RNF125 Gene:

Q96EQ8-RN125_HUMAN
Tissue specificity: Predominantly expressed in lymphoid tissues, including bone marrow, spleen and thymus. Also weakly expressed in other tissues. Predominant in the CD4+ and CD8+ T-cells, suggesting that it is preferentially confined to T-cells.
genes like me logo Genes that share expression patterns with RNF125: view

Primer Products

No data available for mRNA differential expression in normal tissues for RNF125 Gene

Orthologs for RNF125 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF125 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF125 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia RNF125 34 35
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia RNF125 34 35
  • 88.02 (n)
mouse
(Mus musculus)
Mammalia Rnf125 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf125 34
  • 83.91 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF125 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF125 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf125 34
  • 60.03 (n)
zebrafish
(Danio rerio)
Actinopterygii RNF125 35
  • 14 (a)
OneToOne
Species where no ortholog for RNF125 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF125 Gene

ENSEMBL:
Gene Tree for RNF125 (if available)
TreeFam:
Gene Tree for RNF125 (if available)

Paralogs for RNF125 Gene

Paralogs for RNF125 Gene

(1) SIMAP similar genes for RNF125 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RNF125: view

Variants for RNF125 Gene

Sequence variations from dbSNP and Humsavar for RNF125 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs370242930 Tenorio syndrome (TNORS) [MIM:616260], Pathogenic 32,065,917(+) TTTGC(C/T)GTTTA intron-variant, reference, missense
rs373764886 Tenorio syndrome (TNORS) [MIM:616260], Pathogenic 32,045,716(+) CAGAT(A/C/T)GGAAC reference, missense, stop-gained
rs786201014 Tenorio syndrome (TNORS) [MIM:616260], Pathogenic 32,042,196(+) GAAAT(A/G)AGGGC reference, missense
rs10164167 -- 32,025,506(+) aaaaa(C/T)acaag intron-variant
rs10438934 -- 32,038,915(+) GGCCC(A/G)ACACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF125 Gene

Variant ID Type Subtype PubMed ID
esv2758719 CNV gain 17122850
esv3642144 CNV gain 21293372
esv3642145 CNV gain 21293372
esv3893087 CNV gain 25118596
nsv1061305 CNV gain 25217958
nsv1064505 CNV gain 25217958
nsv1065285 CNV loss 25217958
nsv524199 CNV loss 19592680
nsv962873 CNV duplication 23825009

Variation tolerance for RNF125 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF125 Gene

Human Gene Mutation Database (HGMD)
RNF125
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF125

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF125 Gene

Disorders for RNF125 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF125 Gene - From: OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
tenorio syndrome
  • overgrowth, macrocephaly, and intellectual disability syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RN125_HUMAN
  • Tenorio syndrome (TNORS) [MIM:616260]: A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome. {ECO:0000269 PubMed:25196541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RNF125

Genetic Association Database (GAD)
RNF125
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF125
genes like me logo Genes that share disorders with RNF125: view

No data available for Genatlas for RNF125 Gene

Publications for RNF125 Gene

  1. T-cell regulator RNF125/TRAC-1 belongs to a novel family of ubiquitin ligases with zinc fingers and a ubiquitin-binding domain. (PMID: 17990982) Giannini A.L. … Bijlmakers M.J. (Biochem. J. 2008) 3 4 22 64
  2. A New Overgrowth Syndrome is Due to Mutations in RNF125. (PMID: 25196541) Tenorio J. … Lapunzina P. (Hum. Mutat. 2014) 3 4 64
  3. A novel E3 ubiquitin ligase TRAC-1 positively regulates T cell activation. (PMID: 15843525) Zhao H. … Masuda E.S. (J. Immunol. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RNF125 Gene

Sources for RNF125 Gene

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