The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have bee... See more...

Aliases for RCHY1 Gene

Aliases for RCHY1 Gene

  • Ring Finger And CHY Zinc Finger Domain Containing 1 2 3 5
  • ZNF363 2 3 4
  • RNF199 2 3 4
  • ARNIP 2 3 4
  • CHIMP 2 3 4
  • PIRH2 2 3 4
  • RING Finger And CHY Zinc Finger Domain-Containing Protein 1 3 4
  • Androgen-Receptor N-Terminal-Interacting Protein 2 3
  • P53-Induced Protein With A RING-H2 Domain 2 3
  • RING-Type E3 Ubiquitin Transferase RCHY1 3 4
  • E3 Ubiquitin-Protein Ligase Pirh2 3 4
  • RING Finger Protein 199 3 4
  • Zinc Finger Protein 363 3 4
  • Zinc Finger, CHY-Type 2 3
  • PRO1996 2 3
  • ZCHY 2 3
  • Ring Finger And CHY Zinc Finger Domain Containing 1, E3 Ubiquitin Protein Ligase 3
  • Androgen Receptor N-Terminal-Interacting Protein 4
  • CH-Rich Interacting Match With PLAG1 3
  • CH-Rich-Interacting Match With PLAG1 4
  • P53-Induced RING-H2 Protein 4
  • DKFZp586C1620 2
  • EC 2.3.2.27 4
  • HPirh2 4
  • RCHY1 5

External Ids for RCHY1 Gene

Previous HGNC Symbols for RCHY1 Gene

  • ZNF363

Previous GeneCards Identifiers for RCHY1 Gene

  • GC04M076866
  • GC04M076762
  • GC04M076623
  • GC04M076405
  • GC04M072150

Summaries for RCHY1 Gene

Entrez Gene Summary for RCHY1 Gene

  • The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]

GeneCards Summary for RCHY1 Gene

RCHY1 (Ring Finger And CHY Zinc Finger Domain Containing 1) is a Protein Coding gene. Diseases associated with RCHY1 include Retinitis Pigmentosa 43 and Variola Minor. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity.

UniProtKB/Swiss-Prot Summary for RCHY1 Gene

  • Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity.

Gene Wiki entry for RCHY1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCHY1 Gene

Genomics for RCHY1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RCHY1 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
GH04J075511 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 617 +1.2 1236 4.9 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 RFX1 RCHY1 THAP6 lnc-RCHY1-5 NUP54 MN298117 PARM1
GH04J075401 Promoter 0.6 Ensembl 15.4 +113.5 113457 0.8 NR2C1 NR2F1 L3MBTL2 NRF1 ENSG00000250735 piR-33432-385 piR-47086-212 piR-45012-377 RCHY1 ENSG00000248646 THAP6 PARM1
GH04J075494 Enhancer 0.5 Ensembl 16.2 +19.2 19156 4.2 PKNOX1 CEBPB NFE2 FOXM1 SPI1 BCL6B MN298117 RCHY1 NAAA THAP6 lnc-RCHY1-5 PARM1
GH04J075720 Enhancer 0.6 Ensembl 11.2 -205.5 -205544 0.4 ZNF623 ZBTB11 ZNF213 ZFP64 ZBTB33 ZNF781 REST ZNF518A ZNF697 ZBTB8A RCHY1 CDKL2 ODAPH G3BP2 USO1 lnc-USO1-3
GH04J075564 Enhancer 0.5 Ensembl 10.9 -51.6 -51644 3.4 RFX1 MNT ZBTB20 BMI1 ZFP64 RCHY1 THAP6 CDKL2 ODAPH lnc-ODAPH-2 NONHSAG038225.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCHY1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCHY1

Top Transcription factor binding sites by QIAGEN in the RCHY1 gene promoter:
  • LCR-F1
  • NF-1
  • NF-1/L

Genomic Locations for RCHY1 Gene

Genomic Locations for RCHY1 Gene
chr4:75,479,037-75,515,057
(GRCh38/hg38)
Size:
36,021 bases
Orientation:
Minus strand
chr4:76,404,247-76,439,974
(GRCh37/hg19)
Size:
35,728 bases
Orientation:
Minus strand

Genomic View for RCHY1 Gene

Genes around RCHY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCHY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCHY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCHY1 Gene

Proteins for RCHY1 Gene

  • Protein details for RCHY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PM5-ZN363_HUMAN
    Recommended name:
    RING finger and CHY zinc finger domain-containing protein 1
    Protein Accession:
    Q96PM5
    Secondary Accessions:
    • B3KRG3
    • C7E541
    • C7E542
    • C7E543
    • D3YRV2
    • E7EMC8
    • E7ETW5
    • J3KPI0
    • Q2KN33
    • Q59GN7
    • Q86X26
    • Q96PR5

    Protein attributes for RCHY1 Gene

    Size:
    261 amino acids
    Molecular mass:
    30110 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with AR, p53/TP53, MDM2, HDAC1, KAT5, PLAG1, PLAGL2, CDKN1B, COPE, UBE2D2 and GORAB/NTKLBP1.
    SequenceCaution:
    • Sequence=BAD92309.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: No ubiquitin protein ligase activity. Down-regulated in hepatocellular carcinoma.
    • [Isoform 7]: Gene prediction based on partial mRNA data.

    Three dimensional structures from OCA and Proteopedia for RCHY1 Gene

    Alternative splice isoforms for RCHY1 Gene

neXtProt entry for RCHY1 Gene

Post-translational modifications for RCHY1 Gene

  • Subject to ubiquitination and proteasomal degradation. Interaction with PLAGL2 or KAT5 enhances protein stability.
  • Ubiquitination at Lys241
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RCHY1 Gene

Domains & Families for RCHY1 Gene

Gene Families for RCHY1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RCHY1 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • CHY zinc finger
ProtoNet:

Suggested Antigen Peptide Sequences for RCHY1 Gene

GenScript: Design optimal peptide antigens:
  • p53-induced protein with RING-H2 variant B (C7E542_HUMAN)
  • p53-induced protein with RING-H2 variant C (C7E543_HUMAN)
  • p53-induced protein with RING-H2 variant D (D3YRV2_HUMAN)
  • RCHY1 protein (Q96BL1_HUMAN)
  • p53-induced RING-H2 protein (ZN363_HUMAN)
genes like me logo Genes that share domains with RCHY1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RCHY1 Gene

Function for RCHY1 Gene

Molecular function for RCHY1 Gene

UniProtKB/Swiss-Prot Function:
Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity.
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;.
UniProtKB/Swiss-Prot Induction:
Up-regulated during the S phase of the cell cycle. Expressed at low levels during G phase.

Enzyme Numbers (IUBMB) for RCHY1 Gene

Phenotypes From GWAS Catalog for RCHY1 Gene

Gene Ontology (GO) - Molecular Function for RCHY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 19043414
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 15781263
GO:0008270 zinc ion binding IEA,IDA 19043414
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with RCHY1: view
genes like me logo Genes that share phenotypes with RCHY1: view

Animal Models for RCHY1 Gene

MGI Knock Outs for RCHY1:

Animal Model Products

  • Taconic Biosciences Mouse Models for RCHY1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCHY1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCHY1 Gene

Localization for RCHY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCHY1 Gene

Nucleus. Nucleus speckle. 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 RCHY1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCHY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 19043414
GO:0005634 nucleus IEA,IDA 19483087
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15781263
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RCHY1: view

Pathways & Interactions for RCHY1 Gene

genes like me logo Genes that share pathways with RCHY1: view

UniProtKB/Swiss-Prot Q96PM5-ZN363_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for RCHY1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for RCHY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IDA 19483087
GO:0016567 protein ubiquitination IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 19483087
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA 19483087
GO:0070987 error-free translesion synthesis TAS --
genes like me logo Genes that share ontologies with RCHY1: view

Drugs & Compounds for RCHY1 Gene

No Compound Related Data Available

Transcripts for RCHY1 Gene

mRNA/cDNA for RCHY1 Gene

7 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCHY1

Alternative Splicing Database (ASD) splice patterns (SP) for RCHY1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for RCHY1 Gene

GeneLoc Exon Structure for
RCHY1

Expression for RCHY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCHY1 Gene

Protein differential expression in normal tissues from HIPED for RCHY1 Gene

This gene is overexpressed in NK cells (15.5), Peripheral blood mononuclear cells (13.6), and Fetal ovary (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCHY1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RCHY1

SOURCE GeneReport for Unigene cluster for RCHY1 Gene:

Hs.48297

Evidence on tissue expression from TISSUES for RCHY1 Gene

  • Nervous system(4.8)
  • Blood(4.5)
  • Kidney(2.8)
  • Muscle(2.8)
  • Skin(2.8)
  • Heart(2.7)
  • Liver(2.6)
  • Intestine(2.5)
  • Lung(2.3)
  • Spleen(2.3)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)
  • Lymph node(2.1)
  • Stomach(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with RCHY1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCHY1 Gene

Orthologs for RCHY1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RCHY1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RCHY1 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCHY1 30 31
  • 92.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCHY1 30 31
  • 90.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rchy1 30 17 31
  • 88.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RCHY1 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rchy1 30
  • 86.33 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RCHY1 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RCHY1 30 31
  • 70.65 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rchy1 30
  • 74.5 (n)
Str.10607 30
Zebrafish
(Danio rerio)
Actinopterygii rchy1 30 31
  • 68.37 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG16947 30 31
  • 53.19 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G62970 30
  • 54.99 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0538500 30
  • 53.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11347 31
  • 47 (a)
OneToOne
Species where no ortholog for RCHY1 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 RCHY1 Gene

ENSEMBL:
Gene Tree for RCHY1 (if available)
TreeFam:
Gene Tree for RCHY1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCHY1: view image

Paralogs for RCHY1 Gene

(1) SIMAP similar genes for RCHY1 Gene using alignment to 7 proteins:

  • ZN363_HUMAN
  • D6RAF6_HUMAN
  • G3FDP4_HUMAN
  • G3FDP5_HUMAN
  • H0YAI4_HUMAN
  • J3KQJ2_HUMAN
  • Q96BL1_HUMAN
genes like me logo Genes that share paralogs with RCHY1: view

No data available for Paralogs for RCHY1 Gene

Variants for RCHY1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCHY1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
775069 Benign: not provided 75,514,275(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RCHY1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RCHY1 Gene

Variant ID Type Subtype PubMed ID
nsv1111276 CNV tandem duplication 24896259
nsv1131809 CNV deletion 24896259
nsv1140180 CNV insertion 24896259
nsv1143097 CNV tandem duplication 24896259
nsv594687 CNV loss 21841781
nsv7363 OTHER inversion 18451855

Variation tolerance for RCHY1 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCHY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCHY1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCHY1 Gene

Disorders for RCHY1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RCHY1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 43
  • rp43
variola minor
  • alastrim
monkeypox
  • monkeypox virus infection
deafness, autosomal recessive 98
  • dfnb98
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards
Search RCHY1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RCHY1

genes like me logo Genes that share disorders with RCHY1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCHY1 Gene

Publications for RCHY1 Gene

  1. Molecular basis of Pirh2-mediated p53 ubiquitylation. (PMID: 19043414) Sheng Y … Arrowsmith CH (Nature structural & molecular biology 2008) 3 4 23
  2. PLAGL2 controls the stability of Pirh2, an E3 ubiquitin ligase for p53. (PMID: 17950244) Zheng G … Yang YC (Biochemical and biophysical research communications 2007) 3 4 23
  3. Control of human PIRH2 protein stability: involvement of TIP60 and the proteosome. (PMID: 14701804) Logan IR … Robson CN (The Journal of biological chemistry 2004) 3 4 23
  4. Pirh2, a p53-induced ubiquitin-protein ligase, promotes p53 degradation. (PMID: 12654245) Leng RP … Benchimol S (Cell 2003) 2 3 23
  5. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 41

Products for RCHY1 Gene

Sources for RCHY1 Gene