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

Gene ID: 55743, updated on 9-Dec-2018

Summary

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
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

Genomic context

See CHFR in Genome Data Viewer
Location:
12q24.33
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000432561.6
    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, ENST00000450056.6
    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, ENST00000443047.6
    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, ENST00000266880.11
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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