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CHFR Gene

protein-coding   GIFtS: 56

GC12M130193
checkpoint with forkhead and ring finger domains
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
checkpoint with forkhead and ring finger domains1 2     FLJ336292
RNF1961 2 3     RNF1162
FLJ107961 2     E3 ubiquitin-protein ligase CHFR2
Checkpoint with forkhead and RING finger domains protein2 3     EC 6.3.2.-3
RING finger protein 1962 3     

External Ids:    HGNC: 204551   Entrez Gene: 557432   Ensembl: ENSG000000726097   UniProtKB: Q96EP13   

Export aliases for CHFR gene to outside databases

Previous GC identifers: GC12M130925 GC12M132970 GC12M133041 GC12M131655 GC12M132027 GC12M131927 GC12M133416


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1
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

Gene Wiki entry for CHFR

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHFR gene promoter:
         GR-alpha   CUTL1   NF-YA   NF-Y   CP1C   CP1A   Pax-5   ATF6   Hlf   FAC1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CHFR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CHFR 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.33   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24.33

CHFR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHFR gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M130193:  view genomic region     (about GC identifiers)

Start:
130,193,539 bp from pter
End:
130,240,836 bp from pter
Size:
47,298 bases
Orientation:
minus strand

1 alternative location:
Chr12- 133,416,938-133,464,184     
RefSeq DNA sequence:
NC_000012.11  NT_024477.14  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase CHFR  
Size: 664 amino acids; 73386 Da
Subunit: Interacts with HDAC1 and HDAC2. Interacts with PML (with sumoylated form of PML)
Subcellular location: Nucleus, PML body
Developmental stage: Weakly expressed in G1 phase, and highly expressed during S phase
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
PDB structure from and Proteopedia :
1LGP (3D)    1LGQ (3D)    
Secondary accessions: A6NEN5 B4DZ77 B4E2L6 Q96SL3 Q9NRT4 Q9NT32 Q9NVD5
Alternative splicing: 5 isoforms:  Q96EP1-1   Q96EP1-2   Q96EP1-3   Q96EP1-4   Q96EP1-5   

Explore the universe of human proteins at neXtProt for CHFR: NX_Q96EP1 

Post-translational modifications:

  • 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 PARP11
  • Autoubiquitinated; may regulate its cellular level1
  • Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylated by PKB. Phosphorylation may
  • affect its E3 ligase activity1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (5 alternative transcripts): 
    NP_001154816.1  NP_001154817.1  NP_001154818.1  NP_001154819.1  NP_060693.2  


    ENSEMBL proteins: 
    ENSP00000320557 ENSP00000398735 ENSP00000266880 ENSP00000392395 ENSP00000416431 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for CHFR 
    Novus Biologicals Proteins for CHFR
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18172500
    GO:0016605 PML body IDA15467728
    About this table

    CHFR for ontologies           About GeneDecksing



    Antibodies for CHFR: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for CHFR
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CHFR 
    OriGene Antibodies: CHFR
    GenScript Custom Superior Antibodies Services for CHFR 
    Novus Biologicals Antibodies for CHFR
    Epitomics antibodies for CHFR

    Assays for CHFR: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHFR 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CHFR 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHFR for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR008984 SMAD_FHA_domain
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q96EP1

    ProtoNet protein and cluster: Q96EP1

    2 Blocks protein families:
    IPB000253 Forkhead-associated (FHA)
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1
    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
    Domain: 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
    Similarity: Belongs to the CHFR family
    Similarity: Contains 1 FHA domain
    Similarity: Contains 1 PBZ-type zinc finger
    Similarity: Contains 1 RING-type zinc finger


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1
    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 Number (IUBMB): EC 6.3.2.- 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CHFR
    Sigma-Aldrich shRNA Panels and shRNA for CHFR
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): CHFR
    OriGene shRNA RFP (see all 5): CHFR
    OriGene basic RS shRNA (see all 5): CHFR
    OriGene siRNA (see all 5): CHFR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CHFR 
    miRNA:Sigma-Aldrich microRNA Mimics for CHFR
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CHFR 
    8/10 SABiosciences Assays for microRNAs that regulate CHFR (see all 10):
    hsa-miR-548p hsa-miR-29c hsa-miR-29a hsa-miR-1297 hsa-miR-1253 hsa-miR-335 hsa-miR-656 hsa-miR-26a

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): CHFR
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): CHFR
    OriGene untagged cDNA clones in CMV expression vector: CHFR
    OriGene 3'-UTR clone (see all 5): CHFR 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CHFR 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CHFR 

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IDA18172500
    GO:0004842 ubiquitin-protein ligase activity IDA18172500
    GO:0005515 protein binding IPI18172500
    GO:0008270 zinc ion binding IEA--
    GO:0016874 ligase activity IEA--
    About this table

    CHFR for ontologies           About GeneDecksing

    Animal Models: 4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chfr):

    cellularhomeostasis/metabolismlife span-post-weaning/agingtumorigenesis

    CHFR for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

    UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1
    Pathway: Protein modification; protein ubiquitination

        SABiosciences Custom Pathway-Focused PCR Arrays for CHFR 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHFR

    5/36 Interacting proteins for CHFR (ENSP000002668803 Q96EP11, 2) via UniProtKB, MINT, and/or STRING (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136931EBI-718923,EBI-1783169
    BRD4O608852MINT-63187
    EEF1GP266412MINT-65139
    ITGAEP385702MINT-65140
    WDR47O949672MINT-65138
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209 protein polyubiquitination IDA19182791
    GO:0000278 mitotic cell cycle IEA--
    GO:0006511 ubiquitin-dependent protein catabolic process IEA--
    GO:0007067 mitosis IEA--
    GO:0007093 mitotic cell cycle checkpoint TAS10935642
    About this table

    CHFR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    CHFR for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHFR
    1 Novoseek chemical compound relationship for CHFR gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paclitaxel 32.9 4 11912157 (2), 15631682 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CHFR
    Sigma-Aldrich shRNA Panels and shRNA for CHFR
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): CHFR
    OriGene shRNA RFP (see all 5): CHFR
    OriGene basic RS shRNA (see all 5): CHFR
    OriGene siRNA (see all 5): CHFR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CHFR 
    miRNA: Sigma-Aldrich microRNA Mimics for CHFR
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CHFR 
    8/10 SABiosciences Assays for microRNAs that regulate CHFR (see all 10):
    hsa-miR-548p hsa-miR-29c hsa-miR-29a hsa-miR-1297 hsa-miR-1253 hsa-miR-335 hsa-miR-656 hsa-miR-26a
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): CHFR
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): CHFR
    OriGene untagged cDNA clones in CMV expression vector: CHFR
    OriGene 3'-UTR Clone (see all 5): CHFR 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CHFR 
    Primers: OriGene genome-wide validated SYBR primer pairs: CHFR
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CHFR: PPH01970A

    REFSEQ mRNAs for CHFR gene (5 alternative transcripts): 

    NM_001161344.1  NM_001161345.1  NM_001161346.1  NM_001161347.1  NM_018223.2  

    Additional cDNA sequence: 

    AF170724.1 AK001658.1 AK027687.1 AK027873.1 AK097671.1 AK122878.1 AK302785.1 AK304333.1 
    AL137561.1 AL832191.1 AL832623.2 BC012072.1 BC062737.1 CR625905.1 

    24/40 DOTS entries (see all 40):

    DT.91745950  DT.454273  DT.92045508  DT.95373888  DT.91938691  DT.92037934  DT.121214174  DT.92030999 
    DT.100785161  DT.121214046  DT.100742317  DT.95373893  DT.113539  DT.92019957  DT.100655031  DT.100027451 
    DT.100662721  DT.121213931  DT.121214189  DT.91745952  DT.95130462  DT.100785163  DT.100785165  DT.115285 

    24/141 AceView cDNA sequences (see all 141):

    AW005470 CB117189 AI928386 AB027133 BQ924736 BU148471 BC060826 AU134937 
    AI370484 AL044812 CK000790 BG679233 BG740693 AA703134 BU153737 BQ936072 
    AJ707343 L06148 BF222780 BQ073354 BU521351 BE764999 BM558904 BG677300 

    highest scoring ESTs for CHFR:

    AF170724 AI967983 AK001658 AK027687 AU132825 BI769973 BQ887242 BQ924736 BQ936072 BU148471 

    Unigene Cluster for CHFR:

    Checkpoint with forkhead and ring finger domains
    Hs.29698  [show with all ESTs]
    Unigene Representative Sequence: AL832191


    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CHFR (see all 14)

    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:                                                                                                                                -     -     -     -         

    ExUns: 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d · 22e · 22f
    SP1:  -     -                 -                                                         
    SP2:  -     -                 -                                                         
    SP3:  -     -                 -                                                         
    SP4:  -                       -                                                         
    SP5:  -     -                 -                                                         

    About this scheme

    ECgene alternative splicing isoforms for CHFR
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315585 ENST00000450056(uc001uld.2) ENST00000266880(uc001ulc.1 uc001ule.2 uc001ulf.2 uc010tbs.1 uc010tbt.1)
    ENST00000432561 ENST00000443047

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CHFR expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching CHFR gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    57330_s_at2, 3 U95-C 1 1.00 1.00 0.94 1.11 R55179 0.40 1.00 0.76 1
    63859_at2, 3 U95-C 1 1.00 1.00 0.99 0.89 AI967983 0.80 0.88 0.84 1
    223931_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF170724 0.80 0.88 0.84 1
    218803_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018223 0.60 0.83 0.73 1
    223931_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    218803_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    CHFR for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CHFR gene expression
    CHFR gene electronic northern expression
    CHFR gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.29698

    UniProtKB/Swiss-Prot: CHFR_HUMAN, Q96EP1
    Tissue specificity: Ubiquitous

    Primers: OriGene genome-wide validated SYBR primer pairs: CHFR
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CHFR: PPH01970A
        SABiosciences Custom PCR Arrays for CHFR 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CHFR gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CHFR1   -- checkpoint with forkhead and ring finger domains 81.8(n)
    81.31(a)
    477434  XM_843543.1  XP_848636.1 
    rat
    (Rattus norvegicus)
    Chfr1   -- checkpoint with forkhead and ring finger domains 80.41(n)
    81.32(a)
    288734  NM_001009258.1  NP_001009258.1 
    mouse
    (Mus musculus)
    Chfr1 , 5 5 (53.32 cM)5
    checkpoint with forkhead and ring finger domains1, 5 80.68(n)1
    80.68(a)1
    2316001  NM_172717.21  NP_766305.11 
     AI8507075  AK0392815  (see all 22)
    chicken
    (Gallus gallus)
    CHFR1   -- checkpoint with forkhead and ring finger domains 68.82(n)
    73.3(a)
    416792  XM_415086.2  XP_415086.2 
    zebrafish
    (Danio rerio)
    si:dkey-69h6.71   -- si:dkey-69h6.7 60.1(n)
    58.44(a)
    564271  NM_001100015.1  NP_001093485.1 
    About this table        Species with no ortholog for CHFR

    ENSEMBL Gene Tree for CHFR (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/707 NCBI SNPs in CHFR are shown (see all 707)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs36851,2
    C,F,133441430(+) TTTAAG/ATAGAA 3 -- int110Minor allele frequency- A:0.28NA EA WA 332
    rs80211,2
    C,F,133417285(-) AGCCCA/GGGGCT 4 -- ut31 ese38Minor allele frequency- G:0.47MN NS NA WA 500
    rs156381,2
    C,F,A,H133417362(+) GGCCGT/CGGTCA 4 -- ut31 ese36Minor allele frequency- C:0.12NA WA 16
    rs10459791,2
    C,F,O,133418069(-) GACAAG/ACACGT 4 -- ut31 ese39Minor allele frequency- A:0.19EA MN NS NA 2262
    rs10461061,2
    --133417060(-) TTCTTC/TTCAGG 4 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    rs10461301,2
    C133416964(-) ATATTC/TTAATA 4 -- ut310--------
    rs20621611,2
    C,F,133428032(+) ATGGTG/AGGAAA 3 -- int19Minor allele frequency- A:0.46MN EA NS NA WA 2120
    rs20621621,2
    C,F,A,133432744(+) CATGAC/TGAGTC 3 -- int111Minor allele frequency- T:0.28MN NS EA NA 1104
    rs20621631,2
    C,F,H,133433173(+) TTATTC/TCTGGC 8 R syn1 ref117Minor allele frequency- T:0.01MN NS EA NA WA 1042
    rs20769201,2
    C,133416463(-) GTCCCA/G/TAGTTA 3 -- ng311NA 2
    About this table

    HapMap Linkage Disequilibrium images for CHFR (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for CHFR
         6 CNVs: 76236 101663 76237 86689 86688 86690
         2 Indels: 45015 71666

    QIAGEN SeqTarget long-range PCR primers for resequencing CHFR 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHFR for disorders           About GeneDecksing

    OMIM: 605209

    1 Novoseek disease relationship for CHFR gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 3.79 5 20388495 (2), 15631682 (1), 10935642 (1)
    About this table

    Human Gene Mutation Database (HGMD): CHFR
    Human Genome Epidemiology (HuGE) Navigator: CHFR (6 documents)

    Export disorders and mutations for CHFR gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/59 PubMed articles for CHFR gene, integrated from 7 sources (see all 59):
    (articles sorted by number of sources associating them with CHFR)
    1. The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition. (PubMed id 11807090)1, 2, 3, 7 Kang D.... Fang G. (2002)
    2. Chfr defines a mitotic stress checkpoint that delays entry into metaphase. (PubMed id 10935642)1, 2, 3, 7 Scolnick D.M. and Halazonetis T.D. (2000)
    3. The anti-proliferative effects of the CHFR depend on the forkhead associated domain, but not E3 ligase activity mediated by ring finger domain. (PubMed id 18335050)1, 2, 7 Fukuda T.... Nakagama H. (2008)
    4. Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. (PubMed id 11912157)1, 2, 7 Chaturvedi P.... Zhou B.-B. (2002)
    5. The Chfr mitotic checkpoint protein functions with Ubc13-Mms2 to form Lys63-linked polyubiquitin chains. (PubMed id 14562038)1, 2, 7 Bothos J.... Halazonetis T.D. (2003)
    6. Promotion of mitosis by activated protein kinase B after DNA damage involves polo-like kinase 1 and checkpoint protein CHFR. (PubMed id 14638868)1, 2, 7 Shtivelman E. (2003)
    7. Chfr is linked to tumour metastasis through the downregulation of HDAC1. (PubMed id 19182791)1, 2 Oh Y.M.... Seol J.H. (2009)
    8. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PubMed id 18172500)1, 2 Ahel I....West S.C. (2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. PML bodies control the nuclear dynamics and function of the CHFR mitotic checkpoint protein. (PubMed id 15467728)1, 2 Daniels M.J....Venkitaraman A.R. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55743 HGNC: 20455 AceView: GOLGA3 Ensembl:ENSG00000072609 euGenes: HUgn55743
    ECgene: CHFR H-InvDB: CHFR

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for CHFR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for CHFR gene:
    Search GeneIP for patents involving CHFR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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