Gene Gene information from NCBI Gene database.
Entrez ID 54941
Gene name Ring finger protein 125
Gene symbol RNF125
Synonyms (NCBI Gene)
TNORSTRAC-1TRAC1
Chromosome 18
Chromosome location 18q12.1
Summary 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 p
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs370242930 C>T Pathogenic Missense variant, coding sequence variant, intron variant
rs786201014 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
792
miRTarBase ID miRNA Experiments Reference
MIRT028944 hsa-miR-26b-5p Microarray 19088304
MIRT044723 hsa-miR-320a CLASH 23622248
MIRT043614 hsa-miR-151a-3p CLASH 23622248
MIRT715282 hsa-miR-4797-5p HITS-CLIP 19536157
MIRT715281 hsa-miR-3145-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 17990982
GO:0000139 Component Golgi membrane IEA
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 27411375
GO:0002039 Function P53 binding IPI 25591766
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610432 21150 ENSG00000101695
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EQ8
Protein name E3 ubiquitin-protein ligase RNF125 (EC 2.3.2.27) (RING finger protein 125) (T-cell RING activation protein 1) (TRAC-1)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as RIGI, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:25591766, PubMe
PDB 5DKA , 8GBQ , 8GCB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13923 zf-C3HC4_2 36 75 Domain
PF18574 zf_C2HC_14 94 126 C2HC Zing finger domain Domain
PF05605 zf-Di19 137 197 Drought induced 19 protein (Di19), zinc-binding Domain
Tissue specificity 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. {ECO
Sequence
MGSVLSTDSGKSAPASATARALERRRDPELPVTSFDCAVCLEVLHQPVRTRCGHVFCRSC
IATSLKNNKWTCPYC
RAYLPSEGVPATDVAKRMKSEYKNCAECDTLVCLSEMRAHIRTCQ
KYIDKY
GPLQELEETAARCVCPFCQRELYEDSLLDHCITHHRSERRPVFCPLCRLIPDEN
PSSFSGSLIRHLQVSHT
LFYDDFIDFNIIEEALIRRVLDRSLLEYVNHSNTT
Sequence length 232
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  RIG-I-like receptor signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Tenorio syndrome Pathogenic rs786201014 RCV000162241
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RNF125-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35710093 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 27173324 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy HPO_DG
★☆☆☆☆
Found in Text Mining only
Class III malocclusion Malocclusion HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hemihypertrophy Congenital Hemihypertrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 27173324
★☆☆☆☆
Found in Text Mining only
Gallbladder Carcinoma Gallbladder cancer BEFREE 28611292
★☆☆☆☆
Found in Text Mining only
Gallbladder Neoplasms Gallbladder neoplasm Pubtator 28611292 Associate
★☆☆☆☆
Found in Text Mining only