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 Class I MHC mediated antigen processing and presentation. 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
- Search GeneTex for Antibodies for RNF123
-
Santa Cruz Biotechnology (SCBT) Antibodies for RNF123
Protein Products
-
OriGene Purified Proteins for RNF123
- Search Origene for MassSpec and Protein Over-expression Lysates for RNF123
- Origene Custom Protein Services for RNF123
- Novus Biologicals proteins for RNF123
- Search GeneTex for Proteins for RNF123
-
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
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for RNF123 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RNF123 gene
- Search ViGene Biosciences for RNF123
CRISPR Products
-
OriGene CRISPR knockouts for RNF123
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF123
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miRNA for RNF123 Gene
- miRTarBase miRNAs that target RNF123
miRNA Products
- Search ViGene Biosciences for RNF123
Inhibitory RNA Products
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Clone 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
-
ViGene Biosciences lentiviral particle packaged cDNA for RNF123 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RNF123 gene
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:
ENSP00000328287
Q5XPI4-RN123_HUMAN
for RNF123 Gene via
STRING
MINT
IID
| 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
-
OriGene CRISPR knockouts for RNF123
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF123
- GenScript: Design CRISPR guide RNA sequences for RNF123
miRNA Products
- Search ViGene Biosciences for RNF123
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for RNF123
- Browse OriGene Inhibitory RNA Products For RNF123
-
ViGene Biosciences ready-to-package AAV shRNAs for RNF123 gene
Clone Products
-
OriGene ORF clones in human for RNF123
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- 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
| 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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| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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- Santa Cruz Biotechnology (SCBT) Antibodies for RNF123
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- Santa Cruz Biotechnology (SCBT) CRISPR for RNF123
- 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
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
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