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Aliases for RNF123 Gene

Aliases for RNF123 Gene

  • Ring Finger Protein 123 2 3
  • Kip1 Ubiquitination-Promoting Complex Subunit 1 2 3
  • Kip1 Ubiquitination-Promoting Complex Protein 1 3 4
  • RING-Type E3 Ubiquitin Transferase RNF123 3 4
  • RING Finger Protein 123 4 5
  • KPC1 3 4
  • E3 Ubiquitin-Protein Ligase RNF123 3
  • EC 2.3.2.27 4
  • FP1477 3

External Ids for RNF123 Gene

Previous GeneCards Identifiers for RNF123 Gene

  • GC03P049581
  • GC03P049685
  • GC03P049701
  • GC03P049726

Summaries for RNF123 Gene

Entrez Gene Summary 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.

Gene Wiki entry for RNF123 Gene

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

Promoters and enhancers for RNF123 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I049686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.8 -795 4.2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MST1 PIR39139 RNF123 AMT RBM6 QRICH1 CDHR4 AMIGO3 GMPPB IMPDH2
GH03I050297 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 4.3 +611.8 611772 6.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 HYAL3 HYAL1 NAT6 SEMA3F-AS1 RBM5 TMEM115 CYB561D2 AMT DAG1 RNF123
GH03I049747 Enhancer 0.7 ENCODE 12.1 +59.3 59255 1.9 SOX5 GATAD2A SAP130 TEAD1 JUN HLF CEBPG HMG20A ZNF644 ZKSCAN1 FAM212A PHF5EP IP6K1 GMPPB AMIGO3 RNF123 BSN-AS1 BSN BSN-AS2 COX6CP14
GH03I049719 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 0.3 +30.4 30391 1.6 HDGF CTCF MXI1 ZNF133 MAX BACH1 SIN3A EBF1 RAD21 CCNT2 AMIGO3 FAM212A GMPPB MST1 RNF123 GC03P049421
GH03I049703 Enhancer 0.7 ENCODE 0.4 +14.5 14480 0.2 HDGF CTCF SAP130 ARID4B MAX RAD21 ZFHX2 ZBTB48 EGR1 SMC3 MST1 RNF123 AMIGO3 GC03P049421
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF123 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF123 gene promoter:

Genomic Locations for RNF123 Gene

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

Genes around RNF123 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF123 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF123 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for RNF123 Gene

    Alternative splice isoforms for RNF123 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

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

Suggested Antigen Peptide Sequences for RNF123 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF123: view

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

Gene Ontology (GO) - Molecular Function for RNF123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF123: view
genes like me logo Genes that share phenotypes with RNF123: view

miRNA for RNF123 Gene

miRTarBase miRNAs that target RNF123

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF123 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNF123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IDA,TAS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with RNF123: view

Pathways & Interactions for RNF123 Gene

genes like me logo Genes that share pathways with RNF123: view

UniProtKB/Swiss-Prot Q5XPI4-RN123_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with RNF123: view

No data available for SIGNOR curated interactions for RNF123 Gene

Drugs & Compounds for RNF123 Gene

No Compound Related Data Available

Transcripts for RNF123 Gene

Unigene Clusters for RNF123 Gene

Ring finger protein 123:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF123 Gene

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 ^
SP1:
SP2:
SP3:
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:

Relevant External Links for RNF123 Gene

GeneLoc Exon Structure for
RNF123
ECgene alternative splicing isoforms for
RNF123

Expression for RNF123 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF123 Gene

mRNA differential expression in normal tissues according to GTEx for RNF123 Gene

This gene is overexpressed in Muscle - Skeletal (x7.4).

Protein differential expression in normal tissues from HIPED for RNF123 Gene

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



Protein tissue co-expression partners for RNF123 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF123 Gene:

RNF123

SOURCE GeneReport for Unigene cluster for RNF123 Gene:

Hs.553723

Evidence on tissue expression from TISSUES for RNF123 Gene

  • Nervous system(4.8)
  • Lung(4.2)
  • Eye(4.1)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with RNF123: view

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.

Orthologs for RNF123 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF123 33
  • 98.16 (n)
dog
(Canis familiaris)
Mammalia RNF123 33 34
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia RNF123 33 34
  • 89.26 (n)
mouse
(Mus musculus)
Mammalia Rnf123 33 16 34
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Rnf123 33
  • 88.59 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF123 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF123 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF123 33 34
  • 76.09 (n)
lizard
(Anolis carolinensis)
Reptilia RNF123 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf123 33
  • 71.3 (n)
Str.7038 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10089 33
zebrafish
(Danio rerio)
Actinopterygii rnf123 34
  • 78 (a)
OneToOne
LOC101884269 33
  • 72.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6752 33 34
  • 47.34 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009295 33
  • 26.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RKP 33
  • 41.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 11 (a)
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)

Evolution for RNF123 Gene

ENSEMBL:
Gene Tree for RNF123 (if available)
TreeFam:
Gene Tree for RNF123 (if available)

Paralogs for RNF123 Gene

Paralogs for RNF123 Gene

genes like me logo Genes that share paralogs with RNF123: view

Variants for RNF123 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for RNF123 Gene

Variant ID Type Subtype PubMed ID
nsv979829 CNV duplication 23825009
nsv822077 CNV gain 20364138
nsv820990 CNV duplication 20802225
nsv508217 CNV deletion 20534489
nsv482082 CNV gain 20164927
nsv1148681 CNV duplication 26484159
nsv1141429 CNV duplication 24896259
nsv1118699 CNV duplication 24896259
esv28815 CNV gain+loss 19812545

Variation tolerance for RNF123 Gene

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)

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

  1. 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
  2. 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
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58

Products for RNF123 Gene

Sources for RNF123 Gene

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