Aliases for RNF123 Gene
Aliases for RNF123 Gene
External Ids for RNF123 Gene
- HGNC: 21148
- Entrez Gene: 63891
- Ensembl: ENSG00000164068
- OMIM: 614472
- UniProtKB: Q5XPI4
Previous GeneCards Identifiers for RNF123 Gene
- GC03P049581
- GC03P049685
- GC03P049701
- GC03P049726
Summaries for RNF123 Gene
-
The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for RNF123 Gene
RNF123 (Ring Finger Protein 123) is a Protein Coding gene. Among its related pathways are Innate Immune System and Deubiquitination. GO annotations related to this gene include ligase activity. An important paralog of this gene is RSPRY1.
UniProtKB/Swiss-Prot for RNF123 Gene
-
Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF123 Gene
Genomics for RNF123 Gene
Regulatory Elements for RNF123 Gene
Enhancers for RNF123 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 |
|---|---|---|---|---|---|---|---|---|
| GH03G049747 | 1.1 | ENCODE | 12.1 | +59.3 | 59256 | 1.9 | HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS | FAM212A PHF5EP IP6K1 QRICH1 GMPPB AMIGO3 RNF123 ENSG00000225399 IMPDH2 BSN-AS1 |
| GH03G050297 | 1.4 | Ensembl ENCODE | 4.3 | +611.8 | 611773 | 6.5 | CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 | HYAL3 SEMA3F-AS1 TMEM115 CYB561D2 HYAL1 AMT NAT6 DAG1 RNF123 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around RNF123 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for RNF123 Gene
- Chromosome:
- 3
- Start:
- 49,689,143 bp from pter
- End:
- 49,721,529 bp from pter
- Size:
- 32,387 bases
- Orientation:
- Plus strand
Genomic View for RNF123 Gene
Genes around RNF123 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p21.31 by Ensembl
- 3p21.31 by Entrez Gene
- 3p21.31 by HGNC
RNF123 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 RNF123 Gene
Proteins for RNF123 Gene
-
Protein details for RNF123 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5XPI4-RN123_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase RNF123
- Protein Accession:
- Q5XPI4
- A1L4Q3
- A6NLS5
- Q5I022
- Q6PFW4
- Q71RH0
- Q8IW18
- Q9H0M8
- Q9H5L8
- Q9H9T2
Protein attributes for RNF123 Gene
- Size:
- 1314 amino acids
- Molecular mass:
- 148515 Da
- Quaternary structure:
-
- Component of the KPC complex composed of RNF123/KPC1 and UBAC1/KPC2. Interacts with UBAC1 and CDKN1B via its N-terminal domain.
- SequenceCaution:
-
- Sequence=BAB14139.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15607.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for RNF123 Gene
Post-translational modifications for RNF123 Gene
- Ubiquitinated, leading to its degradation. Deubiquitinated by USP19, thereby stimulating CDKN1B ubiquitin-dependent degradation.
- Ubiquitination at isoforms=233, Lys467, isoforms=2530, isoforms=2704, isoforms=2806, isoforms=2814, Lys906, and isoforms=21286
- Modification sites at PhosphoSitePlus
Other Protein References for RNF123 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RNF123
-
Abcam antibodies for RNF123
- Invitrogen Antibodies for RNF123
- antibodies-online Antibodies for RNF123: See all 19
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-
Santa Cruz Biotechnology (SCBT) Antibodies for RNF123
Protein Products
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OriGene Purified Proteins for RNF123
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- Novus Biologicals proteins for RNF123
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-
Abcam proteins for RNF123
No data available for DME Specific Peptides for RNF123 Gene
Domains & Families for RNF123 Gene
Gene Families for RNF123 Gene
Protein Domains for RNF123 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RNF123 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for RNF123 Gene
Function for RNF123 Gene
Molecular function for RNF123 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- 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.
- UniProtKB/Swiss-Prot Function:
- Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.
Enzyme Numbers (IUBMB) for RNF123 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for RNF123 Gene
Animal Model Products
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-
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ViGene Biosciences lentiviral particle packaged cDNA for RNF123 gene
-
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- Search ViGene Biosciences for RNF123
CRISPR Products
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OriGene CRISPR knockouts for RNF123
-
Applied Biological Materials CRISPR for RNF123
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF123
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miRNA for RNF123 Gene
- miRTarBase miRNAs that target RNF123
miRNA Products
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for RNF123
-
ViGene Biosciences adenoviral particle packaged cDNA for RNF123 gene
-
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-
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No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF123 Gene
Localization for RNF123 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RNF123 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | -- |
| GO:0005829 | cytosol | TAS,IDA | -- |
Pathways & Interactions for RNF123 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | Metabolism of proteins | ||
| 4 | Innate Immune System |
.61
|
|
Pathways by source for RNF123 Gene
UniProtKB/Swiss-Prot Q5XPI4-RN123_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for RNF123 Gene
Selected Interacting proteins:
Q5XPI4-RN123_HUMAN
ENSP00000328287
for RNF123 Gene via
IID
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0016579 | protein deubiquitination | TAS | -- |
No data available for SIGNOR curated interactions for RNF123 Gene
Transcripts for RNF123 Gene
mRNA/cDNA for RNF123 Gene
- (4) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (194) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RNF123 Gene
CRISPR Products
-
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF123
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miRNA Products
- Search ViGene Biosciences for RNF123
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for RNF123
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-
ViGene Biosciences ready-to-package AAV shRNAs for RNF123 gene
Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for RNF123
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · | 20c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | |||||||||||||||||||||
| SP5: | |||||||||||||||||||||
| SP6: | |||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||
| SP8: | |||||||||||||||||||||
| SP9: | |||||||||||||||||||||
| SP10: |
Expression for RNF123 Gene
mRNA differential expression in normal tissues according to GTEx for RNF123 Gene
This gene is overexpressed in Muscle - Skeletal (x7.4).
This gene is overexpressed in Lymph node (10.1), Heart (7.2), and Tonsil (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF123 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RNF123 Gene:
RNF123SOURCE GeneReport for Unigene cluster for RNF123 Gene:
Hs.553723Evidence on tissue expression from TISSUES for RNF123 Gene
- Nervous system(4.8)
- Lung(4.2)
- Eye(4.1)
- Muscle(2.6)
Primer Products
-
OriGene qPCR primer pairs for RNF123
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF123 Gene
Orthologs for RNF123 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RNF123 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RNF123 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | RNF123 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Rnf123 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rnf123 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RNF123 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RNF123 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RNF123 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RNF123 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rnf123 34 |
|
||
| Str.7038 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10089 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rnf123 35 |
|
OneToOne | |
| LOC101884269 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6752 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009295 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | RKP 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for RNF123 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for RNF123 Gene
Variants for RNF123 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs199922550 | Pathogenic | 49,721,847(+) | TATGA(C/T)GTCCT | downstream-variant-500B, reference, missense | |
| rs397509422 | Pathogenic | 49,721,835(+) | CTCAT(C/T)ATTAA | downstream-variant-500B, reference, missense | |
| rs886039910 | Likely pathogenic | 49,721,964(-) | AGTGG(A/G)TAAGC | downstream-variant-500B, reference, missense, splice-donor-variant | |
| rs184127567 | Uncertain significance | 49,721,787(+) | CTCGC(C/T)AATAG | downstream-variant-500B, upstream-variant-2KB, reference, missense | |
| rs747845961 | Uncertain significance | 49,721,897(+) | GAGGA(C/T)AGGCC | intron-variant, downstream-variant-500B, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv28815 | CNV | gain+loss | 19812545 |
| nsv1118699 | CNV | duplication | 24896259 |
| nsv1141429 | CNV | duplication | 24896259 |
| nsv1148681 | CNV | duplication | 26484159 |
| nsv482082 | CNV | gain | 20164927 |
| nsv508217 | CNV | deletion | 20534489 |
| nsv820990 | CNV | duplication | 20802225 |
| nsv822077 | CNV | gain | 20364138 |
| nsv979829 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.65;
72.77% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for RNF123 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RNF123
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF123 Gene
Disorders for RNF123 Gene
Relevant External Links for RNF123
No disorders were found for RNF123 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF123 Gene
Publications for RNF123 Gene
- Role of the UBL-UBA protein KPC2 in degradation of p27 at G1 phase of the cell cycle. (PMID: 16227581) Hara T. … Nakayama K. (Mol. Cell. Biol. 2005) 3 4 22 64
- Cytoplasmic ubiquitin ligase KPC regulates proteolysis of p27(Kip1) at G1 phase. (PMID: 15531880) Kamura T. … Nakayama K. (Nat. Cell Biol. 2004) 2 3 4 64
- Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan A.R. … Ferguson L.R. (Hum. Immunol. 2010) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- 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 RNF123 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for RNF123 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for RNF123
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- Horizon Cell Lines for RNF123
- Cyagen custom Knockout/knockin (KOKI) mouse models for RNF123
- VectorBuilder custom plasmid, inducible vectors for RNF123
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RNF123
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for RNF123 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
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