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 Metabolism of proteins and Innate Immune System. Gene Ontology (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.
Additional gene information for RNF123 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF123 Gene
Genomics for RNF123 Gene
GeneHancer (GH) Regulatory Elements for RNF123 Gene
Regulatory Element Products
Genomic Locations for RNF123 Gene
- chr3:49,689,143-49,721,529
- (GRCh38/hg38)
- Size:
- 32,387 bases
- Orientation:
- Plus strand
- chr3:49,726,932-49,758,962
- (GRCh37/hg19)
Genomic View for RNF123 Gene
- Cytogenetic band:
-
- 3p21.31 by Ensembl
- 3p21.31 by Entrez Gene
- 3p21.31 by HGNC


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 Lys33, isoforms=2467, isoforms=2530, Lys704, Lys806, Lys814, Lys906, and isoforms=21286
Other Protein References for RNF123 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam antibodies for RNF123
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Abcam proteins for RNF123
Assay Products
No data available for DME Specific Peptides for RNF123 Gene
Domains & Families for RNF123 Gene
Gene Families for RNF123 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
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
Phenotypes From GWAS Catalog for RNF123 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for RNF123 Gene
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miRNA for RNF123 Gene
- miRTarBase miRNAs that target RNF123
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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.
- Cytosol (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0031965 | nuclear membrane | 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
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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-
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- 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
- Applied Biological Materials Clones for RNF123
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF123 Gene
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
-
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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 33 |
|
||
dog (Canis familiaris) |
Mammalia | RNF123 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | RNF123 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Rnf123 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rnf123 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RNF123 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RNF123 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RNF123 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | RNF123 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rnf123 33 |
|
||
Str.7038 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10089 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rnf123 34 |
|
OneToOne | |
LOC101884269 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | CG6752 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009295 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | RKP 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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 | Variation | AA Info | Type |
---|---|---|---|---|---|
rs184127567 | uncertain-significance, likely-benign, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 49,721,787(+) | C/T | downstream_transcript_variant | |
rs199922550 | pathogenic, likely-pathogenic, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14, not provided, Muscular dystrophy-dystroglycanopathy | 49,721,847(+) | C/T | downstream_transcript_variant | |
rs371188899 | uncertain-significance, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 49,721,985(+) | G/A | downstream_transcript_variant | |
rs397509422 | pathogenic, likely-pathogenic, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 49,721,835(+) | C/G/T | downstream_transcript_variant | |
rs55816606 | likely-benign, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 49,721,956(+) | C/A/T | downstream_transcript_variant |
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 |
Additional Variant Information 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
Additional Disease Information for RNF123
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KI (Molecular and cellular biology 2005) 3 4 22 58
- Cytoplasmic ubiquitin ligase KPC regulates proteolysis of p27(Kip1) at G1 phase. (PMID: 15531880) Kamura T … Nakayama KI (Nature cell biology 2004) 2 3 4 58
- Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan AR … Ferguson LR (Human immunology 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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- 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
- antibodies-online: Search results for 32 available RNF123 Antibodies ranked by validation data
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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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew