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Aliases for RNF125 Gene

Aliases for RNF125 Gene

  • Ring Finger Protein 125, E3 Ubiquitin Protein Ligase 2 3 5
  • T-Cell RING Activation Protein 1 3 4
  • TRAC-1 3 4
  • T-Cell Ring Protein Identified In Activation Screen 3
  • Ring Finger Protein 125 2
  • RING Finger Protein 125 4
  • 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, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with RNF125 include tenorio syndrome. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Immune System. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is RNF166.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RNF125 on UCSC Golden Path with GeneCards custom track

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

neXtProt entry for RNF125 Gene

Proteomics data for RNF125 Gene at MOPED

Post-translational modifications for RNF125 Gene

  • Ubiquitination at Lys 69 and Lys 91
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF125 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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 RING-type zinc finger.
Similarity:
  • 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:0004842 ubiquitin-protein transferase activity IEA --
GO:0016874 ligase activity 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

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

Localization for RNF125 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RNF125 Gene

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

None

No data available for SIGNOR curated interactions for RNF125 Gene

Drugs & Compounds for RNF125 Gene

No Compound Related Data Available

Transcripts for RNF125 Gene

Unigene Clusters for RNF125 Gene

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

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 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



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

Protein tissue co-expression partners for RNF125 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia RNF125 35
  • 88.02 (n)
  • 90.04 (a)
RNF125 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF125 35
  • 89.66 (n)
  • 90.95 (a)
RNF125 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNF125 35
  • 99.71 (n)
  • 99.57 (a)
RNF125 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf125 35
  • 83.91 (n)
  • 85.78 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF125 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf125 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF125 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf125 35
  • 60.03 (n)
  • 54.3 (a)
zebrafish
(Danio rerio)
Actinopterygii RNF125 36
  • 14 (a)
OneToOne
Species with no ortholog for RNF125:
  • 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
VAR_073353 Tenorio syndrome (TNORS)
VAR_073354 Tenorio syndrome (TNORS)
VAR_073355 Tenorio syndrome (TNORS)
rs168058 -- 32,041,975(-) GAAGA(C/T)CCAAC intron-variant
rs170861 -- 32,057,237(-) ATTCA(A/G)TTATC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv524199 CNV Loss 19592680
dgv1021e1 CNV Complex 17122850
nsv909520 CNV Gain 21882294
dgv3404n71 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
RNF125
Human Gene Mutation Database (HGMD)
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. A New Overgrowth Syndrome is Due to Mutations in RNF125. (PMID: 25196541) Tenorio J. … Lapunzina P. (Hum. Mutat. 2014) 3 4 67
  2. 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 23
  3. Downregulation of the Ubiquitin Ligase RNF125 Underlies Resistance of Melanoma Cells to BRAF Inhibitors via JAK1 Deregulation. (PMID: 26027934) Kim H. … Ronai Z.A. (Cell Rep 2015) 3
  4. RNF125 is a ubiquitin-protein ligase that promotes p53 degradation. (PMID: 25591766) Yang L. … Miao Z. (Cell. Physiol. Biochem. 2015) 3
  5. MicroRNA-15b Modulates Japanese Encephalitis Virus-Mediated Inflammation via Targeting RNF125. (PMID: 26202983) Zhu B. … Cao S. (J. Immunol. 2015) 3

Products for RNF125 Gene

Sources for RNF125 Gene

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