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

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; AllianceGenome:HGNC:20455
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: mouse all
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Genomic context

Location:: 12q24.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (132832356..132887618, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (132883128..132938456, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (133408942..133464204, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHFR promotes metastasis of human gastric carcinoma by activating AKT and ERK via NRF2- ROS axis.
Title: CHFR promotes metastasis of human gastric carcinoma by activating AKT and ERK via NRF2- ROS axis.
Circ-CHFR modulates the proliferation, migration, and invasion of ox-LDL-induced human aorta vascular smooth muscle cells through the miR-214-3p/PAPPA axis.
Title: Circ-CHFR modulates the proliferation, migration, and invasion of ox-LDL-induced human aorta vascular smooth muscle cells through the miR-214-3p/PAPPA axis.
CHFR-Promoter-Methylation Status Is Predictive of Response to Irinotecan-based Systemic Chemotherapy in Advanced Colorectal Cancer.
Title: CHFR-Promoter-Methylation Status Is Predictive of Response to Irinotecan-based Systemic Chemotherapy in Advanced Colorectal Cancer.
CHFR regulates chemoresistance in triple-negative breast cancer through destabilizing ZEB1.
Title: CHFR regulates chemoresistance in triple-negative breast cancer through destabilizing ZEB1.
CHFR-mediated degradation of RNF126 confers sensitivity to PARP inhibitors in triple-negative breast cancer cells.
Title: CHFR-mediated degradation of RNF126 confers sensitivity to PARP inhibitors in triple-negative breast cancer cells.
CHFRmediated epithelialtomesenchymal transition promotes metastasis in human breast cancer cells.
Title: CHFR‑mediated epithelial‑to‑mesenchymal transition promotes metastasis in human breast cancer cells.
Kaposi's sarcoma-associated herpesvirus processivity factor (PF-8) recruits cellular E3 ubiquitin ligase CHFR to promote PARP1 degradation and lytic replication.
Title: Kaposi's sarcoma-associated herpesvirus processivity factor (PF-8) recruits cellular E3 ubiquitin ligase CHFR to promote PARP1 degradation and lytic replication.
Circ_CHFR expedites cell growth, migration and inflammation in ox-LDL-treated human vascular smooth muscle cells via the miR-214-3p/Wnt3/beta-catenin pathway.
Title: Circ_CHFR expedites cell growth, migration and inflammation in ox-LDL-treated human vascular smooth muscle cells via the miR-214-3p/Wnt3/β-catenin pathway.
Lower CHFR expression was independently associated with unfavorable prognosis in acute myeloid leukemia. Moreover, aberrant CHFR promoter methylation was a rare event in myeloid malignances.
Title: Methylation-independent CHFR expression is a potential biomarker affecting prognosis in acute myeloid leukemia.
The results establish a firm molecular link in immune-edited tumor cells among NANOG, AKT, CHFR, and HDAC1, identifying HDAC1 as a molecular target in controlling NANOGHIGH immune-refractory cancer.
Title: Stabilization of HDAC1 via TCL1-pAKT-CHFR axis is a key element for NANOG-mediated multi-resistance and stem-like phenotype in immune-edited tumor cells.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98884 (e-PCR)
- UniSTS:91675

G43576 (e-PCR)
- UniSTS:95022

RH98685 (e-PCR)
- UniSTS:83815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in meiotic spindle checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2/M transition checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein destabilization	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.3.2.27

NP_001154817.1

EC 2.3.2.27

NP_001154818.1

EC 2.3.2.27

NP_001154819.1

EC 2.3.2.27

NP_060693.2

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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

NG_033999.2 RefSeqGene

Range

5013..60262

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_001154816.1

Status: REVIEWED

Source sequence(s)

AC127070, AF170724, BC012072, BP313700

Consensus CDS

CCDS53849.1

UniProtKB/Swiss-Prot

A6NEN5, B4DZ77, B4E2L6, Q96EP1, Q96SL3, Q9NRT4, Q9NT32, Q9NVD5

Related

ENSP00000392395.2, ENST00000432561.6

Conserved Domains (3) summary

COG1716
Location:31 → 140

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:16 → 105

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:303 → 346

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 ...
NM_001161345.1 → NP_001154817.1 E3 ubiquitin-protein ligase CHFR isoform 2

Status: REVIEWED

Source sequence(s)

AC127070, AK027687, AK304333, BC012072, BP313700

UniProtKB/Swiss-Prot

Q96EP1

Conserved Domains (3) summary

COG1716
Location:31 → 140

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:16 → 105

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:303 → 346

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 ...
NM_001161346.2 → NP_001154818.1 E3 ubiquitin-protein ligase CHFR isoform 3

See identical proteins and their annotated locations for NP_001154818.1

Status: REVIEWED

Source sequence(s)

AC127070

Consensus CDS

CCDS53848.1

UniProtKB/Swiss-Prot

Q96EP1

Related

ENSP00000398735.2, ENST00000450056.7

Conserved Domains (3) summary

COG1716
Location:31 → 103

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:16 → 105

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:291 → 334

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 ...
NM_001161347.1 → NP_001154819.1 E3 ubiquitin-protein ligase CHFR isoform 5

Status: REVIEWED

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:31 → 134

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:16 → 105

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:211 → 254

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 ...
NM_018223.2 → NP_060693.2 E3 ubiquitin-protein ligase CHFR isoform 4

Status: REVIEWED

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:31 → 103

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00060
Location:16 → 105

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:262 → 305

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 ...