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    FBXL7 F-box and leucine rich repeat protein 7 [ Homo sapiens (human) ]

    Gene ID: 23194, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FBXL7provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 7provided by HGNC
    Primary source
    HGNC:HGNC:13604
    See related
    Ensembl:ENSG00000183580 MIM:605656; AllianceGenome:HGNC:13604
    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
    FBL6; FBL7
    Summary
    This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in endometrium (RPKM 6.3), adrenal (RPKM 5.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL7 in Genome Data Viewer
    Location:
    5p15.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (15500180..15939793)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (15439591..15879159)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (15500289..15939902)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900945 Neighboring gene NANOG hESC enhancer GRCh37_chr5:15425914-15426415 Neighboring gene MARK2 pseudogene 5 Neighboring gene actin beta like 2 pseudogene Neighboring gene uncharacterized LOC101929472 Neighboring gene uncharacterized LOC124900946 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:15786420-15787619 Neighboring gene uncharacterized LOC107986343 Neighboring gene NANOG hESC enhancer GRCh37_chr5:15918987-15919488 Neighboring gene NANOG hESC enhancer GRCh37_chr5:15933370-15933935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:15934940-15935440 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:15936300-15937499 Neighboring gene uncharacterized LOC107986406 Neighboring gene microRNA 887 Neighboring gene RNA, 5S ribosomal pseudogene 178

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic predictors associated with improvement of asthma symptoms in response to inhaled corticosteroids. Park HW, et al. J Allergy Clin Immunol, 2014 Mar. PMID 24486069, Free PMC Article
    2. FBXL7 Body Hypomethylation Is Frequent in Tumors from the Digestive and Respiratory Tracts and Is Associated with Risk-Factor Exposure. Camuzi D, et al. Int J Mol Sci, 2022 Jul 15. PMID 35887149, Free PMC Article
    3. 7-Ethoxyrosmanol alleviates hyperglycemia-induced vascular endothelial dysfunction by regulating FBXL7 expression. Ni J, et al. J Bioenerg Biomembr, 2021 Oct. PMID 34427826
    4. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Boone PM, et al. Am J Med Genet A, 2020 Jan. PMID 31633297, Free PMC Article
    5. Epigenetic silencing of the ubiquitin ligase subunit FBXL7 impairs c-SRC degradation and promotes epithelial-to-mesenchymal transition and metastasis. Moro L, et al. Nat Cell Biol, 2020 Sep. PMID 32839549, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBXL7 Body Hypomethylation Is Frequent in Tumors from the Digestive and Respiratory Tracts and Is Associated with Risk-Factor Exposure.
      Title: FBXL7 Body Hypomethylation Is Frequent in Tumors from the Digestive and Respiratory Tracts and Is Associated with Risk-Factor Exposure.
    2. 7-Ethoxyrosmanol alleviates hyperglycemia-induced vascular endothelial dysfunction by regulating FBXL7 expression.
      Title: 7-Ethoxyrosmanol alleviates hyperglycemia-induced vascular endothelial dysfunction by regulating FBXL7 expression.
    3. miR-152-5p suppresses glioma progression and tumorigenesis and potentiates temozolomide sensitivity by targeting FBXL7.
      Title: miR-152-5p suppresses glioma progression and tumorigenesis and potentiates temozolomide sensitivity by targeting FBXL7.
    4. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
      Title: Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
    5. Epigenetic silencing of the ubiquitin ligase subunit FBXL7 impairs c-SRC degradation and promotes epithelial-to-mesenchymal transition and metastasis.
      Title: Epigenetic silencing of the ubiquitin ligase subunit FBXL7 impairs c-SRC degradation and promotes epithelial-to-mesenchymal transition and metastasis.
    6. Fbxl18 regulates apoptosis by mediating ubiquitin-dependent proteasomal degradation of the pro-apoptotic protein Fbxl7 that may impact cellular processes involved in cell cycle progression.
      Title: F-box protein Fbxl18 mediates polyubiquitylation and proteasomal degradation of the pro-apoptotic SCF subunit Fbxl7.
    7. the Skp1.Cul1.F-box protein complex subunit Fbxl7 modulates mitochondrial function by controlling the cellular abundance of survivin
      Title: The Proapoptotic F-box Protein Fbxl7 Regulates Mitochondrial Function by Mediating the Ubiquitylation and Proteasomal Degradation of Survivin.
    8. FBXL7 specifically interacts with Aurora A during mitosis but not in interphase, suggesting a regulatory role for FBXL7 in controlling Aurora A abundance during mitosis.
      Title: Novel E3 ligase component FBXL7 ubiquitinates and degrades Aurora A, causing mitotic arrest.
    9. Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic predictors associated with improvement of asthma symptoms in response to inhaled corticosteroids.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G2/M transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SCF ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-box/LRR-repeat protein 7
    Names
    F-box protein Fbl7

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001278317.2 → NP_001265246.1  F-box/LRR-repeat protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001265246.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AB020647, AC010477, AK309585, BU633031
      Consensus CDS
      CCDS64129.1
      UniProtKB/Swiss-Prot
      Q9UJT9
      Related
      ENSP00000425184.1, ENST00000510662.1
      Conserved Domains (3) summary
      cd09293
      Location:250 → 417
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:193 → 226
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:67 → 110
      F-box-like

    2. NM_012304.5 → NP_036436.1  F-box/LRR-repeat protein 7 isoform 1

      See identical proteins and their annotated locations for NP_036436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB020647, AC010477, BU633031
      Consensus CDS
      CCDS54833.1
      UniProtKB/Swiss-Prot
      B9EGF1, D6RDY7, O94926, Q9UJT9
      Related
      ENSP00000423630.1, ENST00000504595.2
      Conserved Domains (3) summary
      cd09293
      Location:297 → 464
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:240 → 273
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:114 → 157
      F-box-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      15500180..15939793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009262.3 → XP_016864751.1  F-box/LRR-repeat protein 7 isoform X1

      Conserved Domains (3) summary
      cd09293
      Location:292 → 459
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:235 → 268
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:109 → 155
      F-box-like; F-box-like

    2. XM_047417000.1 → XP_047272956.1  F-box/LRR-repeat protein 7 isoform X2

    3. XM_011513998.2 → XP_011512300.1  F-box/LRR-repeat protein 7 isoform X2

      See identical proteins and their annotated locations for XP_011512300.1

      UniProtKB/Swiss-Prot
      Q9UJT9
      Related
      ENSP00000329632.8, ENST00000329673.8
      Conserved Domains (3) summary
      cd09293
      Location:250 → 417
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:193 → 226
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:67 → 110
      F-box-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      15439591..15879159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352171.1 → XP_054208146.1  F-box/LRR-repeat protein 7 isoform X1

    2. XM_054352172.1 → XP_054208147.1  F-box/LRR-repeat protein 7 isoform X2

    3. XM_054352173.1 → XP_054208148.1  F-box/LRR-repeat protein 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJT9.1 GenPept UniProtKB/Swiss-Prot:Q9UJT9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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