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CHFR Gene

protein-coding   GIFtS: 56
GCID: GC12M133399

Checkpoint With Forkhead And Ring Finger Domains, E3 Ubiquitin...

(Previous name: checkpoint with forkhead and ring finger domains)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Checkpoint With Forkhead And Ring Finger Domains, E3 Ubiquitin Protein
Ligase1 2
     RNF1162
RNF1962 3     E3 Ubiquitin-Protein Ligase CHFR2
RING Finger Protein 1962 3     EC 6.3.2.-3
Checkpoint With Forkhead And Ring Finger Domains1     Checkpoint With Forkhead And RING Finger Domains Protein3

External Ids:    HGNC: 204551   Entrez Gene: 557432   Ensembl: ENSG000000726097   OMIM: 6052095   UniProtKB: Q96EP13   

Export aliases for CHFR gene to outside databases

Previous GC identifers: GC12M130925 GC12M132970 GC12M133041 GC12M131655 GC12M132027 GC12M131927 GC12M133416 GC12M130193


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ubiquitin-protein ligase activity and nucleotide binding.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CHFR gene promoter:
         NF-1   Pax-5   NF-YA   NF-YC   NF-YB   FAC1   COMP1   NF-Y   Hlf   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHFR promoter sequence
   Search Chromatin IP Primers for CHFR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M133399:  view genomic region     (about GC identifiers)

Start:
133,398,773 bp from pter      End:
133,532,890 bp from pter
Size:
134,118 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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
6 PDB 3D structures from and Proteopedia for CHFR:
1LGP (3D)        1LGQ (3D)        2XOC (3D)        2XOY (3D)        2XOZ (3D)        2XP0 (3D)    
Secondary accessions: A6NEN5 B4DZ77 B4E2L6 Q96SL3 Q9NRT4 Q9NT32 Q9NVD5
Alternative splicing: 5 isoforms:  Q96EP1-1   Q96EP1-2   Q96EP1-3   Q96EP1-4   Q96EP1-5   (No experimental confirmation available)

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

Explore proteomics data for CHFR at MOPED

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 by PKB. Phosphorylation may affect its E3 ligase activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CHFR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000475423   ENSP00000320557   ENSP00000416431   ENSP00000398735   ENSP00000442327  
     ENSP00000392395   ENSP00000445371   ENSP00000441837   ENSP00000443237   ENSP00000443761  
     ENSP00000475247   ENSP00000266880  

    CHFR Human Recombinant Protein Products:

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    OriGene Custom MassSpec
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    Novus Biologicals CHFR Proteins
    Novus Biologicals CHFR Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHFR

     
    Search eBioscience for Proteins for CHFR 

     
    antibodies-online proteins for CHFR (6 products) 

     
    antibodies-online peptides for CHFR

    CHFR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CHFR
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    Novus Biologicals CHFR Antibodies
    Abcam antibodies for CHFR
    Cloud-Clone Corp. Antibodies for CHFR
    ThermoFisher Antibodies for CHFR
    antibodies-online antibodies for CHFR (52 products) 

    CHFR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CHFR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHFR
    Cloud-Clone Corp. CLIAs for CHFR
    Search eBioscience for ELISAs for CHFR 
    antibodies-online kits for CHFR (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with CHFR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IDA18172500
    GO:0004842ubiquitin-protein ligase activity IDA18172500
    GO:0005515protein binding IPI15467728
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with CHFR           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chfr):
     cellular  homeostasis/metabolism  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with CHFR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chfrtm1Jc for CHFR

       genOway: Develop your customized and physiologically relevant rodent model for CHFR

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHFR:
    hsa-mir-10a-5p (MIRT047652), hsa-mir-24-3p (MIRT030587)

    Block miRNA regulation of human, mouse, rat CHFR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHFR (see all 44):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-139-5p hsa-miR-29a hsa-miR-30d hsa-miR-218 hsa-miR-30a hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidCHFR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHFR
    Predesigned siRNA for gene silencing in human, mouse, rat CHFR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHFR

    Clone
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    OriGene clones in human, mouse for CHFR (see all 28)
    OriGene ORF clones in mouse, rat for CHFR
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    GenScript: all cDNA clones in your preferred vector: CHFR (NM_005258)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHFR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHFR

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CHFR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHFR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHFR_HUMAN, Q96EP1: Nucleus, PML body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with CHFR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHFR About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    2Protein Stability
    Protein Stability


    Find genes that share SuperPaths with CHFR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for CHFR
        Cell Cycle / Checkpoint Control
    Protein Stability


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

        Pathway & Disease-focused RT2 Profiler PCR Array including CHFR: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHFR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHFR (Q96EP12, 3 ENSP000003205574) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRD4O608852, 3, ENSP000002633774MINT-63187 I2D: score=4 STRING: ENSP00000263377
    EEF1GP266412, 3MINT-65139 I2D: score=5 
    WDR47O949672, 3MINT-65138 I2D: score=3 
    ENSG00000237112Q9UBS53, ENSP000004112864I2D: score=3 STRING: ENSP00000411286
    GABBR1Q9UBS53, ENSP000003662334I2D: score=3 STRING: ENSP00000366233
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

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

    Find genes that share ontologies with CHFR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHFR

    4 HMDB Compounds for CHFR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

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



    Find genes that share compounds with CHFR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHFR gene (5 alternative transcripts): 
    NM_001161344.1  NM_001161345.1  NM_001161346.1  NM_001161347.1  NM_018223.2  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000541341 ENST00000536843 ENST00000315585(uc001ulc.1 uc001uld.2)
    ENST00000545046 ENST00000443047 ENST00000450056(uc001ule.2 uc010tbt.1)
    ENST00000544268 ENST00000537522 ENST00000541837 ENST00000432561 ENST00000545659
    ENST00000544093 ENST00000535527 ENST00000538235 ENST00000502279 ENST00000511001
    ENST00000535897 ENST00000541817
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHFR (see all 44):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-139-5p hsa-miR-29a hsa-miR-30d hsa-miR-218 hsa-miR-30a hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidCHFR 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CHFR (NM_005258)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHFR
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat CHFR

    Selected AceView cDNA sequences (see all 141):

    BU153737 AA703134 AJ707343 BG680920 BM541730 BQ924736 CR625905 BM558904 
    BQ936072 CB117189 BQ069938 BG679233 BG677300 CK000790 BU148471 BC060826 
    BG740693 BQ073354 AU134937 BF222780 AU132825 BQ887242 AW005470 AI370484 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHFR (see all 14)    About this scheme

    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:  -     -                 -                                                         


    ECgene alternative splicing isoforms for CHFR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CHFR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATCTGGAA
    CHFR Expression
    About this image

    CHFR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHFR Protein Expression

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

        Pathway & Disease-focused RT2 Profiler PCR Array including CHFR: 
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHFR gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chfr1 , 5 checkpoint with forkhead and ring finger domains1, 5 82.95(n)1
    83.77(a)1
      5 (53.32 cM)5
    2316001  NM_172717.31  NP_766305.21 
     1101358405 
    chicken
    (Gallus gallus)
    Aves CHFR1 checkpoint with forkhead and ring finger domains, E3 more 70.15(n)
    74.39(a)
      416792  XM_004945492.1  XP_004945549.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHFR6
    checkpoint with forkhead and ring finger domains, ...
    66(a)
    1 ↔ 1
    GL343364.1(802105-824642)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.256672 Xenopus laevis transcribed sequence with moderate similarity more 77.64(n)    CA791892.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chfr1 checkpoint with forkhead and ring finger domains, E3 more 62.17(n)
    59.51(a)
      564271  NM_001100015.1  NP_001093485.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G475701 AT1G47570 41.12(n)
    34.21(a)
      841166  NM_001084218.1  NP_001077687.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01755001 Os11g0175500 43.18(n)
    30.64(a)
      4349917  NM_001072411.2  NP_001065879.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHFR gene
    7 SIMAP similar genes for CHFR using alignment to 9 protein entries:     CHFR_HUMAN (see all proteins):
    LNX1    PCGF3    TRIM39    TRIM60    TRIM5    RAD18
    BMI1

    Find genes that share paralogs with CHFR           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CHFR
    PGOHUM00000239653


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHFR (see all 1405)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0175864
    A patient with non small cell lung carcinomas4--see VAR_0175862 F S mis40--------
    VAR_0175834
    A patient with non small cell lung carcinomas4--see VAR_0175832 R P mis40--------
    VAR_0175824
    A patient with non small cell lung carcinomas4--see VAR_0175822 P L mis40--------
    rs128156891,2
    --133416448(+) GCCTCA/GCCCCT 5 -- int10--------
    rs20769201,2
    C--133416463(-) GTCCCA/G/TAGTTA 5 -- int16NA CSA WA EA 363
    rs1867109291,2
    --133416488(+) TCACCC/GCTGCA 5 -- int10--------
    rs339411851,2
    C--133416512(+) CCCCC-/TTTTAGC 5 -- int10--------
    rs749970481,2
    C--133416514(+) CCCCTC/TAGCCT 5 -- int11Minor allele frequency- T:0.50NA 2
    rs797860511,2
    C,F--133416520(+) AGCCTC/TGCCCC 5 -- int12Minor allele frequency- T:0.50NA WA 4
    rs1163304021,2
    F--133416537(+) AACTCG/CGGACC 5 -- int12Minor allele frequency- C:0.25WA EA 238

    HapMap Linkage Disequilibrium report for CHFR (133398773 - 133532890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CHFR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674916CNV Deletion23128226
    esv2661448CNV Deletion23128226
    esv2463073CNV Deletion19546169
    esv2378478CNV Deletion18987734
    esv2382110CNV Deletion18987734
    esv2667136CNV Deletion23128226
    esv1097344CNV Insertion17803354
    nsv899833CNV Loss21882294
    esv25804CNV Loss19812545
    nsv455812CNV Loss19166990

    Human Gene Mutation Database (HGMD): CHFR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHFR
    DNA2.0 Custom Variant and Variant Library Synthesis for CHFR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605209    OMIM disorders: --


    Find genes that share disorders with CHFR           About GenesLikeMe

    1 Novoseek inferred disease relationship for CHFR gene    About this table

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

    Genetic Association Database (GAD): CHFR
    Human Genome Epidemiology (HuGE) Navigator: CHFR (6 documents)

    Export disorders for CHFR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHFR gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with CHFR)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 Kang D.... Fang G. (J. Cell Biol. 2002)
    2. Chfr defines a mitotic stress checkpoint that delays entry into metaphase. (PubMed id 10935642)1, 2, 3, 9 Scolnick D.M. and Halazonetis T.D. (Nature 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, 9 Fukuda T.... Nakagama H. (PLoS ONE 2008)
    4. Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. (PubMed id 11912157)1, 2, 9 Chaturvedi P.... Zhou B.-B. (Cancer Res. 2002)
    5. The Chfr mitotic checkpoint protein functions with Ubc13-Mms2 to form Lys63-linked polyubiquitin chains. (PubMed id 14562038)1, 2, 9 Bothos J.... Halazonetis T.D. (Oncogene 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, 9 Shtivelman E. (Mol. Cancer Res. 2003)
    7. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    8. Novel susceptibility loci for second primary tumors/recurrence in head and neck cancer patients: large-scale evaluation of genetic variants. (PubMed id 19584075)1, 4 Wu X....Hong W.K. (Cancer Prev Res (Phila) 2009)
    9. Chfr is linked to tumour metastasis through the downregulation of HDAC1. (PubMed id 19182791)1, 2 Oh Y.M.... Seol J.H. (Nat. Cell Biol. 2009)
    10. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PubMed id 18172500)1, 2 Ahel I....West S.C. (Nature 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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)
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    Entrez Gene: 55743 HGNC: 20455 AceView: GOLGA3 Ensembl:ENSG00000072609 euGenes: HUgn55743
    ECgene: CHFR H-InvDB: CHFR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHFR Pharmacogenomics, SNPs, Pathways
    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 LifeMap Sciences, Inc.)
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    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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