FBXW7 F-box and WD repeat domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXW7provided by HGNC
Official Full Name: F-box and WD repeat domain containing 7provided by HGNC
Primary source: HGNC:HGNC:16712
See related: Ensembl:ENSG00000109670 MIM:606278; AllianceGenome:HGNC:16712
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: AGO; CDC4; FBW6; FBW7; hAgo; FBX30; FBXW6; SEL10; hCdc4; DEDHIL; FBXO30; SEL-10
Summary: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Expression: Broad expression in skin (RPKM 23.3), brain (RPKM 19.1) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4q31.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (152320544..152536092, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (155643699..155859255, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (153241696..153457244, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epidermal growth factor receptor (EGFR) is a target of the tumor-suppressor E3 ligase FBXW7.
Title: Epidermal growth factor receptor (EGFR) is a target of the tumor-suppressor E3 ligase FBXW7.
ASPM stabilizes the NOTCH intracellular domain 1 and promotes oncogenesis by blocking FBXW7 binding in hepatocellular carcinoma cells.
Title: ASPM stabilizes the NOTCH intracellular domain 1 and promotes oncogenesis by blocking FBXW7 binding in hepatocellular carcinoma cells.
FBXW7 polymorphism asserts susceptibility to colorectal cancer.
Title: FBXW7 polymorphism asserts susceptibility to colorectal cancer.
Fbxw7 suppresses carcinogenesis and stemness in triple-negative breast cancer through CHD4 degradation and Wnt/beta-catenin pathway inhibition.
Title: Fbxw7 suppresses carcinogenesis and stemness in triple-negative breast cancer through CHD4 degradation and Wnt/β-catenin pathway inhibition.
FBXW7 inhibits the progression of ESCC by directly inhibiting the stemness of tumor cells.
Title: FBXW7 inhibits the progression of ESCC by directly inhibiting the stemness of tumor cells.
FBXW7-loss Sensitizes Cells to ATR Inhibition Through Induced Mitotic Catastrophe.
Title: FBXW7-loss Sensitizes Cells to ATR Inhibition Through Induced Mitotic Catastrophe.
FBXW7 affects autophagy through MCL1 in oral squamous cell carcinoma.
Title: FBXW7 affects autophagy through MCL1 in oral squamous cell carcinoma.
E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
Title: E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
The Highs and Lows of FBXW7: New Insights into Substrate Affinity in Disease and Development.
Title: The Highs and Lows of FBXW7: New Insights into Substrate Affinity in Disease and Development.
FBXW7 Enhances Cisplatin-Induced Apoptosis in Oral Cancer Cell Lines.
Title: FBXW7 Enhances Cisplatin-Induced Apoptosis in Oral Cancer Cell Lines.

Submit: New GeneRIF Correction See all GeneRIFs (373)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental delay, hypotonia, and impaired language MedGen: C5774202 OMIM: 620012 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

DKFZP434I0714 (e-PCR)
- UniSTS:278288

Fbxw7 (e-PCR), detects polymorphism
- UniSTS:498235

RH16593 (e-PCR)
- UniSTS:581

SHGC-34878 (e-PCR)
- UniSTS:1395

D4S957 (e-PCR)
- UniSTS:33913

GDB:313807 (e-PCR)
- UniSTS:66441

SHGC-67303 (e-PCR)
- UniSTS:84198

SHGC-82456 (e-PCR)
- UniSTS:104425

SHGC-59612 (e-PCR)
- UniSTS:63214

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin binding	IDA Inferred from Direct Assay more info	PubMed
enables cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphothreonine residue binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of SREBP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hepatocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoclast development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal growth factor-activated receptor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein destabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle G1/S phase transition	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell migration involved in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lipid storage	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info
involved_in sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasculature development	TAS Traceable Author Statement more info	PubMed
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
part_of Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: F-box/WD repeat-containing protein 7

Names: F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase; F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila); F-box protein FBW7; F-box protein FBX30; F-box protein SEL-10; archipelago; homolog of C elegans sel-10

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_029466.2 RefSeqGene

Range

5782..221330

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1141

mRNA and Protein(s)

NM_001013415.2 → NP_001013433.1 F-box/WD repeat-containing protein 7 isoform 3

See identical proteins and their annotated locations for NP_001013433.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC080078, AY049984, BX498391, BX502790

Consensus CDS

CCDS34078.1

UniProtKB/TrEMBL

A0A994J497

Related

ENSP00000296555.4, ENST00000296555.11

Conserved Domains (4) summary

COG2319
Location:249 → 589

WD40; WD40 repeat [General function prediction only]

cd00200
Location:256 → 532

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam12937
Location:163 → 207

F-box-like; F-box-like

sd00039
Location:266 → 301

7WD40; WD40 repeat [structural motif]
NM_001257069.1 → NP_001243998.1 F-box/WD repeat-containing protein 7 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 4 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC014503, HQ873866

Consensus CDS

CCDS64082.1

UniProtKB/TrEMBL

A0A994J6T8, S4R3U4

Related

ENSP00000474751.1, ENST00000604872.6
NM_001349798.2 → NP_001336727.1 F-box/WD repeat-containing protein 7 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AC023424, AC080078, BC143944, CA425646

Consensus CDS

CCDS3777.1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Related

ENSP00000281708.3, ENST00000281708.10

Conserved Domains (3) summary

cd00200
Location:374 → 650

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:384 → 419

7WD40; WD40 repeat [structural motif]

pfam12937
Location:281 → 325

F-box-like
NM_018315.5 → NP_060785.2 F-box/WD repeat-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_060785.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC080078, AF411972, BI496455

Consensus CDS

CCDS3778.1

UniProtKB/TrEMBL

Q53F40

Related

ENSP00000377528.4, ENST00000393956.9

Conserved Domains (3) summary

cd00200
Location:294 → 570

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:304 → 339

7WD40; WD40 repeat [structural motif]

pfam12937
Location:201 → 245

F-box-like
NM_033632.3 → NP_361014.1 F-box/WD repeat-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_361014.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AC023424, AC080078, AI598129, BC117244

Consensus CDS

CCDS3777.1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Related

ENSP00000474725.1, ENST00000603548.6

Conserved Domains (3) summary

cd00200
Location:374 → 650

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:384 → 419

7WD40; WD40 repeat [structural motif]

pfam12937
Location:281 → 325

F-box-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

152320544..152536092 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532085.3 → XP_011530387.1 F-box/WD repeat-containing protein 7 isoform X1

See identical proteins and their annotated locations for XP_011530387.1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Conserved Domains (3) summary

cd00200
Location:374 → 650

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:384 → 419

7WD40; WD40 repeat [structural motif]

pfam12937
Location:281 → 325

F-box-like
XM_047415900.1 → XP_047271856.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6
XM_047415902.1 → XP_047271858.1 F-box/WD repeat-containing protein 7 isoform X2
XM_011532084.3 → XP_011530386.1 F-box/WD repeat-containing protein 7 isoform X1

See identical proteins and their annotated locations for XP_011530386.1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Conserved Domains (3) summary

cd00200
Location:374 → 650

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:384 → 419

7WD40; WD40 repeat [structural motif]

pfam12937
Location:281 → 325

F-box-like
XM_011532087.3 → XP_011530389.1 F-box/WD repeat-containing protein 7 isoform X2

See identical proteins and their annotated locations for XP_011530389.1

Conserved Domains (3) summary

cd00200
Location:346 → 622

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 391

7WD40; WD40 repeat [structural motif]

pfam12937
Location:253 → 297

F-box-like; F-box-like
XM_011532086.3 → XP_011530388.1 F-box/WD repeat-containing protein 7 isoform X2

See identical proteins and their annotated locations for XP_011530388.1

Conserved Domains (3) summary

cd00200
Location:346 → 622

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:356 → 391

7WD40; WD40 repeat [structural motif]

pfam12937
Location:253 → 297

F-box-like; F-box-like
XM_024454123.2 → XP_024309891.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Conserved Domains (3) summary

cd00200
Location:374 → 650

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:384 → 419

7WD40; WD40 repeat [structural motif]

pfam12937
Location:281 → 325

F-box-like
XM_047415897.1 → XP_047271853.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6
XM_024454126.2 → XP_024309894.1 F-box/WD repeat-containing protein 7 isoform X3

UniProtKB/TrEMBL

A0A994J497

Related

ENSP00000515368.1, ENST00000703552.1

Conserved Domains (3) summary

cd00200
Location:207 → 483

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:217 → 252

7WD40; WD40 repeat [structural motif]

pfam12937
Location:114 → 158

F-box-like
XM_047415898.1 → XP_047271854.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6

Related

ENSP00000515369.1, ENST00000703553.1
XM_047415901.1 → XP_047271857.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6
XM_047415899.1 → XP_047271855.1 F-box/WD repeat-containing protein 7 isoform X1

UniProtKB/Swiss-Prot

B7ZLP9, Q68DR0, Q969H0, Q96A16, Q96LE0, Q96RI2, Q9NUX6