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

Gene ID: 23194, updated on 3-May-2020

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
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

Genomic context

See FBXL7 in Genome Data Viewer
Location:
5p15.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (15500180..15939796)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (15500305..15939905)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 5 Neighboring gene actin, beta-like 2 pseudogene Neighboring gene uncharacterized LOC101929472 Neighboring gene uncharacterized LOC107986343 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_001278317.1NP_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
    sd00034
    Location:193226
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:67110
    F-box-like; F-box-like
    cl28166
    Location:250417
    AMN1; Antagonist of mitotic exit network protein 1
  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
    Q9UJT9
    Related
    ENSP00000423630.1, ENST00000504595.2
    Conserved Domains (3) summary
    sd00034
    Location:240273
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:114157
    F-box-like; F-box-like
    cl28166
    Location:297464
    AMN1; Antagonist of mitotic exit network protein 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    15500180..15939796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009262.2XP_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_011513998.1XP_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
    sd00034
    Location:193226
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:67110
    F-box-like; F-box-like
    cl28166
    Location:250417
    AMN1; Antagonist of mitotic exit network protein 1
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