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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 ... See more...
Aliases for RNF125 Gene
Aliases for RNF125 Gene
External Ids for RNF125 Gene
- HGNC: 21150
- NCBI Entrez Gene: 54941
- Ensembl: ENSG00000101695
- OMIM®: 610432
- UniProtKB/Swiss-Prot: Q96EQ8
Previous GeneCards Identifiers for RNF125 Gene
- GC18P029486
- GC18P027850
- GC18P027852
- GC18P029598
- GC18P026455
Summaries 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 and Overgrowth Syndrome. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Innate Immune System. Gene Ontology (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 Summary for RNF125 Gene
-
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:26027934, PubMed:26471729, PubMed:25591766, PubMed:27411375). Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at 'Lys-181', leading to DDX58/RIG-I degradation (PubMed:17460044, PubMed:26471729). Mediates ubiquitination and subsequent degradation of p53/TP53 (PubMed:25591766). Mediates ubiquitination and subsequent degradation of JAK1 (PubMed:26027934). Acts as a positive regulator of T-cell activation (PubMed:15843525).
Additional gene information for RNF125 Gene
- HGNC (21150)
- NCBI Entrez Gene (54941)
- Ensembl (ENSG00000101695)
- OMIM® (610432)
- UniProtKB/Swiss-Prot (Q96EQ8)
- Open Targets Platform(ENSG00000101695)
- Monarch Initiative
- Search for RNF125 at DataMed
- Search for RNF125 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF125 Gene
Genomics for RNF125 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RNF125 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RNF125 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF125
- Top Transcription factor binding sites by QIAGEN in the RNF125 gene promoter:
-
- IRF-7A
- NF-kappaB
- NF-kappaB1
- RelA
- SRY
- USF-1
- USF-1:USF-2
- USF1
- ZIC2
- Zic3
Genomic Locations for RNF125 Gene
Latest Assembly
- chr18:32,018,585-32,090,756
- (GRCh38/hg38)
- Size:
- 72,172 bases
- Orientation:
- Plus strand
Previous Assembly
- chr18:29,598,788-29,653,182
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 54,395 bases
- Orientation:
- Plus strand
- chr18:29,598,335-29,653,176
- (GRCh37/hg19 by Ensembl)
- Size:
- 54,842 bases
- Orientation:
- Plus strand
Genomic View for RNF125 Gene
Genes around RNF125 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.1 by HGNC
- 18q12.1 by Entrez Gene
- 18q12.1 by Ensembl
RNF125 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q9NX39
Protein attributes for RNF125 Gene
- Size:
- 232 amino acids
- Molecular mass:
- 26454 Da
- Quaternary structure:
-
- Interacts with UBE2D1 (PubMed:27411375). Interacts with VCP/p97; leading to recruit RNF125 to DDX58/RIG-I and promote ubiquitination of DDX58/RIG-I (PubMed:26471729).
Protein Expression for RNF125 Gene
Post-translational modifications for RNF125 Gene
- Autoubiquitinated, leading to its subsequent proteasomal degradation.
-
Ubiquitination at Lys69 and Lys91
- NX_Q96EQ8 (NX_Q96EQ8-1)
- Modification sites at PhosphoSitePlus
Other Protein References for RNF125 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences RNF125 / TRAC-1 Antibody
- G Biosciences Immunotag™ RNF125 Antibody
- Novus Biologicals Antibodies for RNF125
-
Abcam antibodies for RNF125
- Invitrogen Antibodies for RNF125 (AFLGC-RNF125)
-
Custom Antibody ServicesProSci Antibodies for RNF125
Protein products for research
-
OriGene Purified Proteins for RNF125
- Search Origene for MassSpec and Protein Over-expression Lysates for RNF125
- Origene Custom Protein Services for RNF125
- Novus Biologicals proteins for RNF125
- antibodies-online: Show 4 available RNF125 Proteins ranked by validation data
- Compare Top RNF125 Proteins
-
Quality Products:
-
Abcam proteins for RNF125
Assay products for research
No data available for DME Specific Peptides for RNF125 Gene
Domains & Families for RNF125 Gene
Gene Families for RNF125 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for RNF125 Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- ProtoNet:
Suggested Antigen Peptide Sequences for RNF125 Gene
- GenScript: Design optimal peptide antigens:
-
- T-cell RING activation protein 1 (RN125_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96EQ8UniProtKB/Swiss-Prot:
RN125_HUMAN :- The C2HC RNF-type zinc finger and the linker region stabilize the RING-type zinc finger, leading to promote binding of the RING-type zinc finger to the ubiquitin-conjugating enzyme E2 (donor ubiquitin) (PubMed:27411375).
- Domain:
-
- The C2HC RNF-type zinc finger and the linker region stabilize the RING-type zinc finger, leading to promote binding of the RING-type zinc finger to the ubiquitin-conjugating enzyme E2 (donor ubiquitin) (PubMed:27411375).
Function for RNF125 Gene
Molecular function for RNF125 Gene
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:26027934, PubMed:26471729, PubMed:25591766, PubMed:27411375). Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at 'Lys-181', leading to DDX58/RIG-I degradation (PubMed:17460044, PubMed:26471729). Mediates ubiquitination and subsequent degradation of p53/TP53 (PubMed:25591766). Mediates ubiquitination and subsequent degradation of JAK1 (PubMed:26027934). Acts as a positive regulator of T-cell activation (PubMed:15843525).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:15843525, ECO:0000269|PubMed:17460044, ECO:0000269|PubMed:17643463, ECO:0000269|PubMed:25591766, ECO:0000269|PubMed:26027934, ECO:0000269|PubMed:26471729, ECO:0000269|PubMed:27411375};.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated by miR-15b (PubMed:26202983). Down-regulated in BRAFi resistant melanomas, leading to increased levels of JAK1 and possibly promoting BRAFi resistance.
Enzyme Numbers (IUBMB) for RNF125 Gene
Phenotypes From GWAS Catalog for RNF125 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002039 | p53 binding | IPI | 25591766 |
| GO:0005515 | protein binding | IPI | 17460044 |
| GO:0008270 | zinc ion binding | IDA | 27411375 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0031624 | ubiquitin conjugating enzyme binding | IPI | 27411375 |
Phenotypes for RNF125 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RNF125 - Starting at $85 >
- * RNF125 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RNF125
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF125
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF125
miRNA for RNF125 Gene
- miRTarBase miRNAs that target RNF125
-
- hsa-miR-26b-5p (MIRT028944)
- hsa-miR-151a-3p (MIRT043614)
- hsa-miR-320a (MIRT044723)
- hsa-miR-5579-3p (MIRT534685)
- hsa-miR-208b-5p (MIRT534686)
- hsa-miR-208a-5p (MIRT534687)
- hsa-miR-5197-3p (MIRT534688)
- hsa-miR-32-3p (MIRT534689)
- hsa-miR-6507-5p (MIRT534690)
- hsa-miR-6720-5p (MIRT715256)
- hsa-miR-6512-3p (MIRT715257)
- hsa-miR-196a-3p (MIRT715258)
- hsa-miR-661 (MIRT715259)
- hsa-miR-891b (MIRT715260)
- hsa-miR-6860 (MIRT715261)
- hsa-miR-612 (MIRT715262)
- hsa-miR-5189-5p (MIRT715263)
- hsa-miR-3187-5p (MIRT715264)
- hsa-miR-1285-3p (MIRT715265)
- hsa-miR-4766-5p (MIRT715266)
- hsa-miR-146a-3p (MIRT715267)
- hsa-miR-766-3p (MIRT715268)
- hsa-miR-939-3p (MIRT715269)
- hsa-miR-6849-3p (MIRT715270)
- hsa-miR-759 (MIRT715271)
- hsa-miR-454-3p (MIRT715272)
- hsa-miR-4295 (MIRT715273)
- hsa-miR-3666 (MIRT715274)
- hsa-miR-301b-3p (MIRT715275)
- hsa-miR-301a-3p (MIRT715276)
- hsa-miR-130b-3p (MIRT715277)
- hsa-miR-130a-3p (MIRT715278)
- hsa-miR-4714-5p (MIRT715279)
- hsa-miR-508-5p (MIRT715280)
- hsa-miR-3145-5p (MIRT715281)
- hsa-miR-4797-5p (MIRT715282)
- hsa-miR-1227-3p (MIRT761409)
- hsa-miR-1228-3p (MIRT761436)
- hsa-miR-1273f (MIRT761900)
- hsa-miR-1827 (MIRT763102)
- hsa-miR-1910-3p (MIRT763333)
- hsa-miR-2467-3p (MIRT764127)
- hsa-miR-25-5p (MIRT764250)
- hsa-miR-3174 (MIRT765233)
- hsa-miR-34b-3p (MIRT765794)
- hsa-miR-3612 (MIRT765942)
- hsa-miR-3614-5p (MIRT766056)
- hsa-miR-3689d (MIRT767093)
- hsa-miR-377-5p (MIRT767466)
- hsa-miR-3929 (MIRT767799)
- hsa-miR-4252 (MIRT768036)
- hsa-miR-4257 (MIRT768166)
- hsa-miR-4419b (MIRT768795)
- hsa-miR-4459 (MIRT769336)
- hsa-miR-4478 (MIRT769546)
- hsa-miR-4534 (MIRT770112)
- hsa-miR-4537 (MIRT770197)
- hsa-miR-455-3p (MIRT770412)
- hsa-miR-4649-3p (MIRT770663)
- hsa-miR-4695-5p (MIRT771224)
- hsa-miR-4722-5p (MIRT771583)
- hsa-miR-4785 (MIRT772272)
- hsa-miR-4802-5p (MIRT772561)
- hsa-miR-485-5p (MIRT772642)
- hsa-miR-6086 (MIRT775597)
- hsa-miR-6087 (MIRT775696)
- hsa-miR-6499-3p (MIRT776354)
- hsa-miR-6500-3p (MIRT776461)
- hsa-miR-650 (MIRT776700)
- hsa-miR-6511a-5p (MIRT776832)
- hsa-miR-6516-5p (MIRT777206)
- hsa-miR-658 (MIRT777363)
- hsa-miR-6746-5p (MIRT778229)
- hsa-miR-6807-5p (MIRT779606)
- hsa-miR-6808-5p (MIRT779703)
- hsa-miR-6851-5p (MIRT780429)
- hsa-miR-6884-5p (MIRT781030)
- hsa-miR-6893-5p (MIRT781235)
- hsa-miR-7160-5p (MIRT781631)
- hsa-miR-8082 (MIRT782408)
- hsa-miR-940 (MIRT782929)
- hsa-miR-1289 (MIRT783411)
- hsa-miR-129-5p (MIRT783582)
- hsa-miR-143-3p (MIRT783815)
- hsa-miR-3198 (MIRT784826)
- hsa-miR-4294 (MIRT785634)
- hsa-miR-4309 (MIRT785699)
- hsa-miR-4708-5p (MIRT786485)
- hsa-miR-4770 (MIRT786700)
- hsa-miR-6088 (MIRT788042)
- hsa-miR-6514-5p (MIRT788358)
- hsa-miR-8055 (MIRT789720)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF125
- Browse OriGene Inhibitory RNA Products For RNF125
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF125
Clone products for research
- Applied Biological Materials (abm): Clones for RNF125 - Starting at $45 >
- * RNF125 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RNF125
- Addgene plasmids for RNF125
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF125
Cell Lines for research
-
Horizon Cell Lines for RNF125
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}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| nucleus | 4 |
| cytosol | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Golgi apparatus (3)
- Nucleoli (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA,IDA | 17990982 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0034098 | VCP-NPL4-UFD1 AAA ATPase complex | IDA | 26471729 |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | 17990982 |
Pathways & Interactions for RNF125 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for RNF125 Gene
1 BioSystems pathway for RNF125 Gene
4 Reactome pathways for RNF125 Gene
1 KEGG pathway for RNF125 Gene
UniProtKB/Swiss-Prot Q96EQ8-RN125_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for RNF125 Gene
Selected Interacting proteins:
Q96EQ8-RN125_HUMAN
ENSP00000217740
for RNF125 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RNF125
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IDA | 27411375 |
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 17460044 |
| GO:0016567 | protein ubiquitination | IEA | -- |
No data available for SIGNOR curated interactions for RNF125 Gene
Transcripts for RNF125 Gene
mRNA/cDNA for RNF125 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000217740 5573 nts (view in UCSC)
- ENST00000580209 416 nts (view in UCSC)
- ENST00000580863 525 nts (view in UCSC)
- ENST00000583384 647 nts (view in UCSC)
- ENST00000583814 712 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RNF125 - Starting at $85 >
- * RNF125 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RNF125
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF125
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF125
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF125
- Browse OriGene Inhibitory RNA Products For RNF125
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF125
Clone products for research
- Applied Biological Materials (abm): Clones for RNF125 - Starting at $45 >
- * RNF125 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RNF125
- Addgene plasmids for RNF125
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF125
| 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
Expression for RNF125 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
This gene is overexpressed in Peripheral blood mononuclear cells (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF125 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF125
SOURCE GeneReport for Unigene cluster for RNF125 Gene:
Hs.633703mRNA 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.
Evidence on tissue expression from TISSUES for RNF125 Gene
- Blood(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF125 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lacrimal apparatus
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- skull
- tongue
- tooth
Thorax:
- chest wall
- clavicle
- esophagus
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- adrenal gland
- stomach
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- sweat gland
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for RNF125
-
OriGene qPCR primer pairs and template standards for RNF125
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RNF125 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RNF125 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RNF125 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rnf125 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rnf125 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | RNF125 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RNF125 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf125 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | RNF125 31 |
|
OneToOne |
- Species where no ortholog for RNF125 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RNF125: view image
Paralogs for RNF125 Gene
Variants for RNF125 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF125 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 848755 | Uncertain Significance: Tenorio syndrome | 32,045,700(+) |
A/G NM_017831.4(RNF125):c.472A>G (p.Ile158Val) |
MISSENSE | |
| 939378 | Uncertain Significance: Tenorio syndrome | 32,045,682(+) |
A/G NM_017831.4(RNF125):c.454A>G (p.Ser152Gly) |
MISSENSE | |
| rs140181211 | Likely Benign: not provided | 32,037,204(+) |
C/T NM_017831.4(RNF125):c.253C>T (p.Pro85Ser) |
MISSENSE | |
| rs141596575 | Benign: Tenorio syndrome | 32,068,375(+) |
C/T NM_017831.4(RNF125):c.690C>T (p.Asn230=) |
SYNONYMOUS | |
| rs142382122 | Likely Benign: not provided | 32,045,721(+) |
C/T NM_017831.4(RNF125):c.493C>T (p.Arg165Trp) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for RNF125 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF125 Gene
Disorders for RNF125 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tenorio syndrome |
|
|
| overgrowth syndrome |
|
|
| noonan syndrome 1 |
|
|
Search RNF125 in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Additional Disease Information for RNF125
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for RNF125 Gene
Publications for RNF125 Gene
- A new overgrowth syndrome is due to mutations in RNF125. (PMID: 25196541) Tenorio J … Lapunzina P (Human mutation 2014) 3 4 74
- 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 AL … Bijlmakers MJ (The Biochemical journal 2008) 3 4 23
- A C2HC zinc finger is essential for the RING-E2 interaction of the ubiquitin ligase RNF125. (PMID: 27411375) Bijlmakers MJ … Crosas B (Scientific reports 2016) 3 4
- A non-canonical role of the p97 complex in RIG-I antiviral signaling. (PMID: 26471729) Hao Q … Zhou Z (The EMBO journal 2015) 3 4
- Downregulation of the Ubiquitin Ligase RNF125 Underlies Resistance of Melanoma Cells to BRAF Inhibitors via JAK1 Deregulation. (PMID: 26027934) Kim H … Ronai ZA (Cell reports 2015) 3 4
ExternalLinks
Products for RNF125 Gene
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Sources for RNF125 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
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