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FBXL20 F-box and leucine rich repeat protein 20 [ Homo sapiens (human) ]

Gene ID: 84961, updated on 3-May-2020

Summary

Official Symbol
FBXL20provided by HGNC
Official Full Name
F-box and leucine rich repeat protein 20provided by HGNC
Primary source
HGNC:HGNC:24679
See related
Ensembl:ENSG00000108306 MIM:609086
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Fbl2; Fbl20
Summary
Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 3.2) and 25 other tissues See more
Orthologs

Genomic context

See FBXL20 in Genome Data Viewer
Location:
17q12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39252663..39402556, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37408897..37558530, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transcription factor CP2-like Neighboring gene SH3 and cysteine rich domain 2 Neighboring gene microRNA 548BC Neighboring gene mediator complex subunit 1 Neighboring gene cyclin dependent kinase 12 Neighboring gene RNA, U6 small nuclear 233, pseudogene

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21037, MGC15482, DKFZp564O2364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of protein catabolic process at presynapse, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
F-box/LRR-repeat protein 20
Names
F-box protein FBL2

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_001184906.2NP_001171835.1  F-box/LRR-repeat protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001171835.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) is shorter but has the same N- and C- termini compared to isoform 1.
    Source sequence(s)
    AC015910, DA747594, DQ223959
    Consensus CDS
    CCDS54116.1
    UniProtKB/Swiss-Prot
    Q96IG2
    Related
    ENSP00000377832.3, ENST00000394294.7
    Conserved Domains (3) summary
    sd00034
    Location:119138
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:2769
    F-box-like
    cl28166
    Location:188362
    AMN1; Antagonist of mitotic exit network protein 1
  2. NM_001370208.1NP_001357137.1  F-box/LRR-repeat protein 20 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005288, AC015910, BQ436371, BU184200, DQ223959
    Related
    ENSP00000462878.1, ENST00000577399.5
    Conserved Domains (3) summary
    sd00034
    Location:156181
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:64106
    F-box-like
    cl28166
    Location:257431
    AMN1; Antagonist of mitotic exit network protein 1
  3. NM_001370209.1NP_001357138.1  F-box/LRR-repeat protein 20 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005288, AC015910, BQ436371, DQ223959
    Conserved Domains (3) summary
    sd00034
    Location:156175
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:64106
    F-box-like
    cl28166
    Location:225399
    AMN1; Antagonist of mitotic exit network protein 1
  4. NM_032875.3NP_116264.2  F-box/LRR-repeat protein 20 isoform 1

    See identical proteins and their annotated locations for NP_116264.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC015910, BC007557, DA747594
    Consensus CDS
    CCDS32640.1
    UniProtKB/Swiss-Prot
    Q96IG2
    Related
    ENSP00000264658.6, ENST00000264658.11
    Conserved Domains (3) summary
    sd00034
    Location:119144
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:2769
    F-box-like
    cl28166
    Location:220394
    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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    39252663..39402556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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