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    CHFR checkpoint with forkhead and ring finger domains [ Homo sapiens (human) ]

    Gene ID: 55743, updated on 5-Nov-2017
    Official Symbol
    CHFRprovided by HGNC
    Official Full Name
    checkpoint with forkhead and ring finger domainsprovided by HGNC
    Primary source
    HGNC:HGNC:20455
    See related
    Ensembl:ENSG00000072609 MIM:605209; Vega:OTTHUMG00000167930
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNF116; RNF196
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.8) and 25 other tissues See more
    Orthologs
    Location:
    12q24.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (132840352..132887618, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133416937..133481459, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene golgin A3 Neighboring gene ribosomal protein S11 pseudogene 5 Neighboring gene RNA, U6 small nuclear 327, pseudogene Neighboring gene uncharacterized LOC101928530 Neighboring gene SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: ZNF605

    Homology

    Clone Names

    • FLJ10796, FLJ33629

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    PubMed 
    modification-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    protein destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    E3 ubiquitin-protein ligase CHFR
    Names
    RING finger protein 196
    RING-type E3 ubiquitin transferase CHFR
    checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
    NP_001154816.1
    NP_001154817.1
    NP_001154818.1
    NP_001154819.1
    NP_060693.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033999.1 RefSeqGene

      Range
      5001..52267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161344.1NP_001154816.1  E3 ubiquitin-protein ligase CHFR isoform 1

      See identical proteins and their annotated locations for NP_001154816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC127070, AF170724, BC012072, BP313700
      Consensus CDS
      CCDS53849.1
      UniProtKB/Swiss-Prot
      Q96EP1
      Related
      ENSP00000392395.2, OTTHUMP00000237377, ENST00000432561.6, OTTHUMT00000397130
      Conserved Domains (3) summary
      COG1716
      Location:31140
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:16105
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:303346
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. NM_001161345.1NP_001154817.1  E3 ubiquitin-protein ligase CHFR isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1
      Source sequence(s)
      AC127070, AK027687, AK304333, BC012072, BP313700
      UniProtKB/Swiss-Prot
      Q96EP1
      Conserved Domains (3) summary
      COG1716
      Location:31140
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:16105
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:303346
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    3. NM_001161346.1NP_001154818.1  E3 ubiquitin-protein ligase CHFR isoform 3

      See identical proteins and their annotated locations for NP_001154818.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.
      Source sequence(s)
      AC127070, AK027687, BC012072, BP313700
      Consensus CDS
      CCDS53848.1
      UniProtKB/Swiss-Prot
      Q96EP1
      Related
      ENSP00000398735.2, OTTHUMP00000237376, ENST00000450056.6, OTTHUMT00000397129
      Conserved Domains (3) summary
      COG1716
      Location:31103
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:16105
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:291334
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    4. NM_001161347.1NP_001154819.1  E3 ubiquitin-protein ligase CHFR isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two in-frame exons in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 5) compared to isoform 1.
      Source sequence(s)
      AC127070, AK027687, AK302785, BC012072, BP313700
      Consensus CDS
      CCDS53847.1
      UniProtKB/Swiss-Prot
      Q96EP1
      Related
      ENSP00000416431.2, OTTHUMP00000237441, ENST00000443047.6, OTTHUMT00000397240
      Conserved Domains (3) summary
      COG1716
      Location:31134
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:16105
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:211254
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    5. NM_018223.2NP_060693.2  E3 ubiquitin-protein ligase CHFR isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon and contains an alternate in-frame exon in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 4) compared to isoform 1.
      Source sequence(s)
      AC127070, AK001658, AK027687, BC012072, BP313700
      Consensus CDS
      CCDS31937.1
      UniProtKB/Swiss-Prot
      Q96EP1
      Related
      ENSP00000266880.8, OTTHUMP00000237440, ENST00000266880.11, OTTHUMT00000397239
      Conserved Domains (3) summary
      COG1716
      Location:31103
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:16105
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:262305
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      132840352..132887618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      133236937..133284187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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