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

    Gene ID: 23194, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001278317.2NP_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:250417
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:193226
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:67110
      F-box-like
    2. NM_012304.5NP_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:297464
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:240273
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:114157
      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_017009262.3XP_016864751.1  F-box/LRR-repeat protein 7 isoform X1

      Conserved Domains (3) summary
      cd09293
      Location:292459
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:235268
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:109155
      F-box-like; F-box-like
    2. XM_047417000.1XP_047272956.1  F-box/LRR-repeat protein 7 isoform X2

    3. XM_011513998.2XP_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:250417
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:193226
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:67110
      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_054352171.1XP_054208146.1  F-box/LRR-repeat protein 7 isoform X1

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

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