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Aliases for CHFR Gene

Aliases for CHFR Gene

  • Checkpoint With Forkhead And Ring Finger Domains, E3 Ubiquitin Protein Ligase 2 3 5
  • RING Finger Protein 196 3 4
  • RNF196 3 4
  • Checkpoint With Forkhead And RING Finger Domains Protein 4
  • Checkpoint With Forkhead And Ring Finger Domains 2
  • EC 6.3.2.- 4
  • RNF116 3

External Ids for CHFR Gene

Previous GeneCards Identifiers for CHFR Gene

  • GC12M130925
  • GC12M132970
  • GC12M133041
  • GC12M131655
  • GC12M132027
  • GC12M131927
  • GC12M133416
  • GC12M130193
  • GC12M133399

Summaries for CHFR Gene

Entrez Gene Summary for CHFR Gene

  • This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

GeneCards Summary for CHFR Gene

CHFR (Checkpoint With Forkhead And Ring Finger Domains, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. GO annotations related to this gene include nucleotide binding and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for CHFR Gene

  • E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the Lys-48-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of Lys-63-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at Lys-63 are usually not targeted for degradation, but are rather involved in signaling cellular stress.

Gene Wiki entry for CHFR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHFR Gene

Genomics for CHFR Gene

Regulatory Elements for CHFR Gene

Promoters for CHFR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHFR on UCSC Golden Path with GeneCards custom track

Genomic Location for CHFR Gene

Chromosome:
12
Start:
132,822,187 bp from pter
End:
132,956,304 bp from pter
Size:
134,118 bases
Orientation:
Minus strand

Genomic View for CHFR Gene

Genes around CHFR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CHFR Gene

Proteins for CHFR Gene

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

    Protein Symbol:
    Q96EP1-CHFR_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CHFR
    Protein Accession:
    Q96EP1
    Secondary Accessions:
    • A6NEN5
    • B4DZ77
    • B4E2L6
    • Q96SL3
    • Q9NRT4
    • Q9NT32
    • Q9NVD5

    Protein attributes for CHFR Gene

    Size:
    664 amino acids
    Molecular mass:
    73386 Da
    Quaternary structure:
    • Interacts with HDAC1 and HDAC2. Interacts with PML (with sumoylated form of PML).
    Miscellaneous:
    • CHFR is silenced in many primary cancers because of CpG methylation and deacetylated histones on its promoter region. This however raises the question of whether CHFR silencing is a consequence or a cause of primary cancers.

    Three dimensional structures from OCA and Proteopedia for CHFR Gene

    Alternative splice isoforms for CHFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHFR Gene

Proteomics data for CHFR Gene at MOPED

Post-translational modifications for CHFR Gene

  • Autoubiquitinated; may regulate its cellular level.
  • Phosphorylated by PKB. Phosphorylation may affect its E3 ligase activity.
  • Poly-ADP-ribosylated. In addition to binding non covalently poly(ADP-ribose) via its PBZ-type zinc finger, the protein is also covalently poly-ADP-ribosylated by PARP1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CHFR (CHFR)

No data available for DME Specific Peptides for CHFR Gene

Domains & Families for CHFR Gene

Gene Families for CHFR Gene

Suggested Antigen Peptide Sequences for CHFR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EP1

UniProtKB/Swiss-Prot:

CHFR_HUMAN :
  • The PBZ-type zinc finger (also named CYR) mediates non-covalent poly(ADP-ribose)-binding. Poly(ADP-ribose)-binding is dependent on the presence of zinc and is required for its function in antephase checkpoint.
  • Belongs to the CHFR family.
  • Contains 1 PBZ-type zinc finger.
Domain:
  • The PBZ-type zinc finger (also named CYR) mediates non-covalent poly(ADP-ribose)-binding. Poly(ADP-ribose)-binding is dependent on the presence of zinc and is required for its function in antephase checkpoint.
  • The FHA domain plays a key role in the anti-proliferative properties of the protein and is involved in initiating a cell cycle arrest at G2/M. The FHA domain may be required to interact with phosphorylated proteins.
  • Contains 1 FHA domain.
Family:
  • Belongs to the CHFR family.
Similarity:
  • Contains 1 PBZ-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with CHFR: view

Function for CHFR Gene

Molecular function for CHFR Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the Lys-48-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of Lys-63-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at Lys-63 are usually not targeted for degradation, but are rather involved in signaling cellular stress.

Enzyme Numbers (IUBMB) for CHFR Gene

Gene Ontology (GO) - Molecular Function for CHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IDA 18172500
GO:0004842 ubiquitin-protein transferase activity IDA 18172500
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with CHFR: view
genes like me logo Genes that share phenotypes with CHFR: view

Animal Models for CHFR Gene

MGI Knock Outs for CHFR:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHFR

miRNA for CHFR Gene

miRTarBase miRNAs that target CHFR

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

Localization for CHFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHFR Gene

Nucleus, PML body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHFR Gene COMPARTMENTS Subcellular localization image for CHFR gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for CHFR Gene

Pathways & Interactions for CHFR Gene

SuperPathways for CHFR Gene

No Data Available

UniProtKB/Swiss-Prot Q96EP1-CHFR_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for CHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007093 mitotic cell cycle checkpoint TAS 10935642
GO:0031398 positive regulation of protein ubiquitination IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with CHFR: view

No data available for Pathways by source and SIGNOR curated interactions for CHFR Gene

Drugs & Compounds for CHFR Gene

(4) Drugs for CHFR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for CHFR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with CHFR: view

Transcripts for CHFR Gene

Unigene Clusters for CHFR Gene

Checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - -
SP6:
SP7: -
SP8: - - - -
SP9:
SP10: -
SP11:
SP12: -
SP13:
SP14:

ExUns: 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d · 22e · 22f
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for CHFR Gene

GeneLoc Exon Structure for
CHFR
ECgene alternative splicing isoforms for
CHFR

Expression for CHFR Gene

mRNA expression in normal human tissues for CHFR Gene

Protein differential expression in normal tissues from HIPED for CHFR Gene

This gene is overexpressed in Urine (66.7).

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



SOURCE GeneReport for Unigene cluster for CHFR Gene Hs.720197

mRNA Expression by UniProt/SwissProt for CHFR Gene

Q96EP1-CHFR_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with CHFR: view

Protein tissue co-expression partners for CHFR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHFR Gene

Orthologs for CHFR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHFR 36
  • 99 (a)
OneToOne
CHFR 35
  • 99.41 (n)
  • 99.35 (a)
cow
(Bos Taurus)
Mammalia CHFR 36
  • 84 (a)
OneToOne
CHFR 35
  • 84.54 (n)
  • 84.59 (a)
dog
(Canis familiaris)
Mammalia CHFR 35
  • 84.82 (n)
  • 84.11 (a)
CHFR 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chfr 36
  • 82 (a)
OneToOne
Chfr 16
Chfr 35
  • 82.95 (n)
  • 83.77 (a)
oppossum
(Monodelphis domestica)
Mammalia CHFR 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHFR 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chfr 35
  • 82.42 (n)
  • 82.42 (a)
chicken
(Gallus gallus)
Aves CHFR 35
  • 70.15 (n)
  • 74.39 (a)
CHFR 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHFR 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25667 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chfr 35
  • 66.18 (n)
  • 70.34 (a)
MGC75959 35
zebrafish
(Danio rerio)
Actinopterygii chfr 36
  • 55 (a)
OneToOne
chfr 35
  • 62.17 (n)
  • 59.51 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G47570 35
  • 41.12 (n)
  • 34.21 (a)
rice
(Oryza sativa)
Liliopsida Os11g0175500 35
  • 43.18 (n)
  • 30.64 (a)
Species with no ortholog for CHFR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CHFR Gene

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

Paralogs for CHFR Gene

Pseudogenes.org Pseudogenes for CHFR Gene

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

No data available for Paralogs for CHFR Gene

Variants for CHFR Gene

Sequence variations from dbSNP and Humsavar for CHFR Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_017582 A patient with non small cell lung carcinomas
VAR_017583 A patient with non small cell lung carcinomas
rs115096950 - 132,859,207(+) CTGCC(C/T)GTTCA reference, missense
rs2306541 - 132,851,656(+) GCTCC(A/G)CTCTC reference, missense
VAR_017586 A patient with non small cell lung carcinomas

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

Variant ID Type Subtype PubMed ID
esv2661448 CNV Deletion 23128226
nsv455812 CNV Loss 19166990
nsv899833 CNV Loss 21882294
esv2382110 CNV Deletion 18987734
esv2463073 CNV Deletion 19546169
esv1097344 CNV Insertion 17803354
esv2667136 CNV Deletion 23128226
esv25804 CNV Loss 19812545
esv2378478 CNV Deletion 18987734
esv2674916 CNV Deletion 23128226

Variation tolerance for CHFR Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.70; 96.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHFR Gene

HapMap Linkage Disequilibrium report
CHFR
Human Gene Mutation Database (HGMD)
CHFR

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

Disorders for CHFR Gene

Relevant External Links for CHFR

Genetic Association Database (GAD)
CHFR
Human Genome Epidemiology (HuGE) Navigator
CHFR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHFR

No disorders were found for CHFR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHFR Gene

Publications for CHFR Gene

  1. The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition. (PMID: 11807090) Kang D. … Fang G. (J. Cell Biol. 2002) 2 3 4 23 67
  2. Chfr defines a mitotic stress checkpoint that delays entry into metaphase. (PMID: 10935642) Scolnick D.M. … Halazonetis T.D. (Nature 2000) 2 3 23
  3. CHFR functions as a ubiquitin ligase for HLTF to regulate its stability and functions. (PMID: 20388495) Kim J.M. … Seol J.H. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. Functional interaction between Chfr and Kif22 controls genomic stability. (PMID: 19321445) Maddika S. … Chen J. (J. Biol. Chem. 2009) 3 23
  5. The anti-proliferative effects of the CHFR depend on the forkhead associated domain, but not E3 ligase activity mediated by ring finger domain. (PMID: 18335050) Fukuda T. … Nakagama H. (PLoS ONE 2008) 3 23

Products for CHFR Gene

Sources for CHFR Gene

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