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

Gene ID: 55294, updated on 22-Feb-2020

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
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; 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

Genomic context

See FBXW7 in Genome Data Viewer
Location:
4q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (152320544..152536873, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (153242410..153456393, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 446, pseudogene Neighboring gene uncharacterized LOC105377492 Neighboring gene FBXW7 antisense RNA 1 Neighboring gene VISTA enhancer hs1361 Neighboring gene microRNA 3140 Neighboring gene MIR4453 host gene Neighboring gene microRNA 4453 Neighboring gene RPS3A pseudogene 18 Neighboring gene ribosomal protein S14 pseudogene 6

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16457, DKFZp686F23254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin binding IDA
Inferred from Direct Assay
more info
PubMed 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphothreonine residue binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
lipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
negative regulation of SREBP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of hepatocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoclast development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of triglyceride biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epidermal growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein destabilization IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of autophagy of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell cycle G1/S phase transition TAS
Traceable Author Statement
more info
PubMed 
regulation of cell migration involved in sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lipid storage ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasculature development TAS
Traceable Author Statement
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Parkin-FBXW7-Cul1 ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_029466.2 RefSeqGene

    Range
    5782..221330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1141

mRNA and Protein(s)

  1. NM_001013415.2NP_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/Swiss-Prot
    Q969H0
    Related
    ENSP00000296555.4, ENST00000296555.11
    Conserved Domains (4) summary
    COG2319
    Location:249589
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:256532
    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:163207
    F-box-like; F-box-like
    sd00039
    Location:266301
    7WD40; WD40 repeat [structural motif]
  2. NM_001257069.1NP_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
    G0Z2K0, S4R3U4
    Related
    ENSP00000474751.1, ENST00000604872.6
  3. NM_001349798.2NP_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
    Related
    ENSP00000281708.3, ENST00000281708.10
    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  4. NM_018315.5NP_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/Swiss-Prot
    Q969H0
    Related
    ENSP00000377528.4, ENST00000393956.9
    Conserved Domains (3) summary
    cd00200
    Location:294570
    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:304339
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:201245
    F-box-like
  5. NM_033632.3NP_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
    Q969H0
    Related
    ENSP00000474725.1, ENST00000603548.6
    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    152320544..152536873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532085.2XP_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
    Q969H0
    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  2. XM_011532088.2XP_011530390.1  F-box/WD repeat-containing protein 7 isoform X3

    See identical proteins and their annotated locations for XP_011530390.1

    Conserved Domains (3) summary
    cd00200
    Location:207483
    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:217252
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:114158
    F-box-like; F-box-like
  3. XM_011532084.2XP_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
    Q969H0
    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  4. XM_011532087.2XP_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:346622
    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:356391
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:253297
    F-box-like; F-box-like
  5. XM_011532086.2XP_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:346622
    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:356391
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:253297
    F-box-like; F-box-like
  6. XM_024454123.1XP_024309891.1  F-box/WD repeat-containing protein 7 isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  7. XM_024454124.1XP_024309892.1  F-box/WD repeat-containing protein 7 isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  8. XM_024454122.1XP_024309890.1  F-box/WD repeat-containing protein 7 isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  9. XM_024454126.1XP_024309894.1  F-box/WD repeat-containing protein 7 isoform X3

    Conserved Domains (3) summary
    cd00200
    Location:207483
    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:217252
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:114158
    F-box-like; F-box-like
  10. XM_024454121.1XP_024309889.1  F-box/WD repeat-containing protein 7 isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:374650
    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:384419
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:281325
    F-box-like; F-box-like
  11. XM_024454125.1XP_024309893.1  F-box/WD repeat-containing protein 7 isoform X2

    Conserved Domains (3) summary
    cd00200
    Location:346622
    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:356391
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:253297
    F-box-like; F-box-like
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