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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
  • 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
  • E3 Ubiquitin-Protein Ligase CHFR 3
  • EC 6.3.2.- 4
  • RNF116 3

External Ids for CHFR Gene

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. Among its related pathways are Cell Cycle / Checkpoint Control and Protein Stability. 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

Genomic Location for CHFR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHFR Gene

Regulatory Elements 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

No data available for DME Specific Peptides for CHFR Gene

Domains for CHFR Gene

Gene Families for CHFR Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

UniProtKB/Swiss-Prot:

CHFR_HUMAN
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:
    • Q96EP1
  • 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:
    • Q96EP1
  • Contains 1 FHA domain.:
    • Q96EP1
Family:
  • Belongs to the CHFR family.:
    • Q96EP1
Similarity:
  • Contains 1 PBZ-type zinc finger.:
    • Q96EP1
  • Contains 1 RING-type zinc finger.:
    • Q96EP1
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:0005515 protein binding IPI 15467728
GO:0008270 zinc ion binding IEA --
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:

miRNA for CHFR Gene

miRTarBase miRNAs that target CHFR

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for CHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18172500
GO:0016605 PML body IDA 15467728
genes like me logo Genes that share ontologies with CHFR: view

Pathways for CHFR Gene

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

Pathways by source for CHFR Gene

2 Cell Signaling Technology pathways for CHFR Gene

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:0000209 protein polyubiquitination IDA 19182791
GO:0000278 mitotic cell cycle --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007093 mitotic cell cycle checkpoint TAS 10935642
genes like me logo Genes that share ontologies with CHFR: view

Compounds for CHFR Gene

(4) HMDB Compounds for CHFR Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Novoseek inferred chemical compound relationships for CHFR Gene

Compound -log(P) Hits PubMed IDs
paclitaxel 32.9 3
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

Integrated Proteomics: protein expression 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 expressions with CHFR: view

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
  • 99.41 (n)
  • 99.35 (a)
CHFR 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHFR 36
  • 84.54 (n)
  • 84.59 (a)
CHFR 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHFR 36
  • 84.82 (n)
  • 84.11 (a)
CHFR 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chfr 36
  • 82.95 (n)
  • 83.77 (a)
Chfr 16
Chfr 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHFR 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHFR 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chfr 36
  • 82.42 (n)
  • 82.42 (a)
chicken
(Gallus gallus)
Aves CHFR 36
  • 70.15 (n)
  • 74.39 (a)
CHFR 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHFR 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25667 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chfr 36
  • 66.18 (n)
  • 70.34 (a)
MGC75959 36
zebrafish
(Danio rerio)
Actinopterygii chfr 36
  • 62.17 (n)
  • 59.51 (a)
chfr 37
  • 55 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G47570 36
  • 41.12 (n)
  • 34.21 (a)
rice
(Oryza sativa)
Liliopsida Os11g0175500 36
  • 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 MAF
rs3685 -- 132,864,844(+) TTTAA(A/G)TAGAA intron-variant
rs8021 -- 132,840,699(-) AGCCC(A/G)GGGCT utr-variant-3-prime
rs15638 -- 132,840,776(+) GGCCG(C/T)GGTCA utr-variant-3-prime
rs1045979 -- 132,841,483(-) GACAA(A/G)CACGT utr-variant-3-prime
rs1046106 -- 132,840,474(-) TTCTT(C/T)TCAGG utr-variant-3-prime

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

Relevant External Links for CHFR Gene

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

Disorders for CHFR Gene

(1) Novoseek inferred disease relationships for CHFR Gene

Disease -log(P) Hits PubMed IDs
cancer 3.79 4

Relevant External Links for CHFR

Genetic Association Database (GAD)
CHFR
Human Genome Epidemiology (HuGE) Navigator
CHFR
genes like me logo Genes that share disorders with CHFR: view

No data available for UniProtKB/Swiss-Prot for CHFR Gene

Publications for CHFR Gene

  1. Chfr defines a mitotic stress checkpoint that delays entry into metaphase. (PMID: 10935642) Scolnick D.M. … Halazonetis T.D. (Nature 2000) 2 3 4 23
  2. 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
  3. Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. (PMID: 11912157) Chaturvedi P. … Zhou B.-B. (Cancer Res. 2002) 3 4 23
  4. The Chfr mitotic checkpoint protein functions with Ubc13-Mms2 to form Lys63-linked polyubiquitin chains. (PMID: 14562038) Bothos J. … Halazonetis T.D. (Oncogene 2003) 3 4 23
  5. Promotion of mitosis by activated protein kinase B after DNA damage involves polo-like kinase 1 and checkpoint protein CHFR. (PMID: 14638868) Shtivelman E. (Mol. Cancer Res. 2003) 3 4 23

Products for CHFR Gene

Sources for CHFR Gene

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