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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHFR Gene

protein-coding   GIFtS: 58
GCID: GC12M133399

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

(Previous name: checkpoint with forkhead and ring finger domains)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Checkpoint With Forkhead And Ring Finger Domains, E3 Ubiquitin Protein
Ligase1 2
     Checkpoint With Forkhead And Ring Finger Domains1
Checkpoint With Forkhead And RING Finger Domains Protein2 3     RNF1162
RNF1962 3     E3 Ubiquitin-Protein Ligase CHFR2
RING Finger Protein 1962 3     EC 6.3.2.-3

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

GeneCards Summary for CHFR Gene: 
CHFR (checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with CHFR include malignant peripheral nerve sheath tumor, and laryngeal squamous cell carcinoma, and among its related super-pathways are DNA Damage. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_024477.14  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHFR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
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:

  • UniProtKB: 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
  • UniProtKB: Autoubiquitinated; may regulate its cellular level
  • UniProtKB: Phosphorylated by PKB. Phosphorylation may affect its E3 ligase activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96EP1

  • CHFR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHFR Protein Expression
    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  

    Human Recombinant Protein Products for CHFR: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CHFR
    OriGene Protein Over-expression Lysate for CHFR
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CHFR
    GenScript Custom Purified and Recombinant Proteins Services for CHFR
    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 

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

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

    CHFR for ontologies           About GeneDecksing



    CHFR Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CHFR
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CHFR 
    OriGene Antibodies for CHFR
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    GenScript Custom Superior Antibodies Services for CHFR
    Novus Biologicals CHFR Antibodies
    Abcam antibodies for CHFR
    Cloud-Clone Corp. Antibodies for CHFR 
    ThermoFisher Antibodies for CHFR
    LSBio Antibodies in human, mouse, rat for CHFR 

    Assay Products for CHFR: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CHFR
    Browse R&D Systems for biochemical assays
    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


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


    CHFR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    CHFR for ontologies           About GeneDecksing


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

    CHFR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chfrtm1Jc for CHFR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHFR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHFR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHFR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHFR 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHFR
    8/44 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CHFR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHFR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHFR
    Sirion Biotech Customized adenovirus for overexpression of CHFR

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CHFR (see all 25)
    OriGene ORF clones in mouse, rat for CHFR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of CHFR 
                         Customized lentivirus expression plasmids for stable overexpression of CHFR 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CHFR
    Search LifeMap BioReagents cell lines for CHFR
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHFR


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHFR About                                                                                                See pathways by source

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

    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


    CHFR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHFR

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

    5/50 Interacting proteins for CHFR (Q96EP12, 3 ENSP000003205574) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

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

    CHFR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHFR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CHFR

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHFR gene (5 alternative transcripts): 
    NM_001161344.1  NM_001161345.1  NM_001161346.1  NM_001161347.1  NM_018223.2  

    Unigene Cluster for CHFR:

    Checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
    Hs.720197  [show with all ESTs]
    Unigene Representative Sequence: NM_001161344
    18/27 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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    8/44 QIAGEN miScript miRNA 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:
         
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CHFR (NM_005258)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHFR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHFR
    Sirion Biotech Customized lentivirus for stable overexpression of CHFR 
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHFR

    Additional mRNA sequence: 

    AF170724.1 AK001658.1 AK027687.1 AK097671.1 AK302785.1 AK304333.1 AL137561.1 BC012072.1 

    24/30 DOTS entries (see all 30):

    DT.91745950  DT.95373888  DT.91938691  DT.121214174  DT.92030999  DT.100785161  DT.121214046  DT.95373893 
    DT.92019957  DT.100027451  DT.100655031  DT.121214189  DT.91745952  DT.100785163  DT.100785165  DT.100644971 
    DT.100662721  DT.100696626  DT.115285  DT.121213895  DT.121213963  DT.121214089  DT.40122609  DT.92030837 

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

    AB027133 AA351608 AA703134 BM541730 BM558904 BG679233 BQ887242 BU521351 
    BQ936072 BQ069938 AJ707343 BU153737 AU134937 BG680920 CB117189 AL044812 
    BE764999 BG677300 BQ073354 CK000790 AA219357 BG740693 BU148471 CR625905 

    GeneLoc Exon Structure

    5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    CHFR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             neutrophils   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See CHFR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHFR

    SOURCE GeneReport for Unigene cluster: Hs.720197

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHFR gene from 5/12 species (see all 12)    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 82.63(n)1
    82.88(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 72.07(n)
    78.18(a)
      416792  XM_415086.3  XP_415086.3 
    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 60.24(n)
    57.64(a)
      564271  NM_001100015.1  NP_001093485.1 


    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)
    About This Section
    Paralogs for CHFR gene
    7 SIMAP similar genes for CHFR using alignment to 7 protein entries:     CHFR_HUMAN (see all proteins):
    LNX1    PCGF3    TRIM39    TRIM60    TRIM5    RAD18
    BMI1

    CHFR for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1405 SNPs in CHFR are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605209    OMIM disorders: --

    19 diseases for CHFR:    About MalaCards
    malignant peripheral nerve sheath tumor    laryngeal squamous cell carcinoma    cblc    peritonitis
    esophageal cancer    laryngitis    oral squamous cell carcinoma    squamous cell carcinoma
    nasopharyngitis    cervical cancer    gastric cancer    esophagitis
    colon cancer    lung cancer    cervicitis    colorectal cancer
    ovarian cancer    adenocarcinoma    breast cancer


    CHFR for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CHFR gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (2010)
    8. Novel susceptibility loci for second primary tumors/r ecurrence in head and neck cancer patients: large-scale evaluation of genetic v ariants. (PubMed id 19584075)1, 4 Wu X....Hong W.K. (2009)
    9. Chfr is linked to tumour metastasis through the downregulation of HDAC1. (PubMed id 19182791)1, 2 Oh Y.M.... Seol J.H. (2009)
    10. Poly(ADP-ribose)-binding zinc finger motifs in DNA repair/checkpoint proteins. (PubMed id 18172500)1, 2 Ahel I....West S.C. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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