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FBXL22 F-box and leucine rich repeat protein 22 [ Homo sapiens (human) ]

Gene ID: 283807, updated on 5-Mar-2024

Summary

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Official Symbol
FBXL22provided by HGNC
Official Full Name
F-box and leucine rich repeat protein 22provided by HGNC
Primary source
HGNC:HGNC:27537
See related
Ensembl:ENSG00000197361 MIM:609088; AllianceGenome:HGNC:27537
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
Fbl22
Summary
This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]
Expression
Broad expression in endometrium (RPKM 6.9), prostate (RPKM 3.6) and 21 other tissues See more
Orthologs
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Genomic context

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See FBXL22 in Genome Data Viewer
Location:
15q22.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63597387..63608516)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61404626..61415756)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63889586..63895631)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9537 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:63795072-63795865 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:63795866-63796658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9539 Neighboring gene Sharpr-MPRA regulatory region 15501 Neighboring gene ubiquitin specific peptidase 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:63851884-63852437 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:63882664-63883863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:63893123-63893940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:63892143-63892860 Neighboring gene USP3 antisense RNA 1 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:63958187-63958357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64006451-64006952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64006953-64007452 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64014173-64014349 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64057331-64058088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64058904-64059404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6522 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:64107893-64108654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64114122-64114622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64125303-64126168 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64126169-64127032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9542 Neighboring gene microRNA 422a

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. Spaich S, et al. Circ Res, 2012 Dec 7. PMID 22972877
  2. Systematic analysis and nomenclature of mammalian F-box proteins. Jin J, et al. Genes Dev, 2004 Nov 1. PMID 15520277, Free PMC Article
  3. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
  4. Maturation of human dendritic cells is accompanied by functional remodelling of the ubiquitin-proteasome system. Ebstein F, et al. Int J Biochem Cell Biol, 2009 May. PMID 19028597
  5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fbxl22 promotes the proteasome-dependent degradation of sarcomeric proteins and is essential for maintenance of normal contractile function.
    Title: F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39626, MGC75496

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
F-box and leucine-rich protein 22
Names
F-box/LRR-repeat protein 22
NP_001354736.1
NP_001354737.1
NP_001354738.1
NP_976307.2
XP_047288356.1
XP_054233724.1

NCBI Reference Sequences (RefSeq)

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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_027784.2 RefSeqGene

    Range
    5002..8856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367807.1 → NP_001354736.1  F-box and leucine-rich protein 22 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC118274
    Consensus CDS
    CCDS92016.1
    UniProtKB/TrEMBL
    A0A1W2PQW8
    Related
    ENSP00000492359.1, ENST00000638704.2
    Conserved Domains (3) summary
    cd09293
    Location:113 → 200
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:122 → 147
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:9 → 49
    F-box-like

  2. NM_001367808.1 → NP_001354737.1  F-box and leucine-rich protein 22 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC118274, AK096945
    Consensus CDS
    CCDS92015.1
    UniProtKB/TrEMBL
    H0YMQ4
    Related
    ENSP00000453697.2, ENST00000534939.2
    Conserved Domains (1) summary
    pfam12937
    Location:9 → 49
    F-box-like

  3. NM_001367809.1 → NP_001354738.1  F-box and leucine-rich protein 22 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC118274
    Consensus CDS
    CCDS92015.1
    UniProtKB/TrEMBL
    H0YMQ4
    Conserved Domains (1) summary
    pfam12937
    Location:9 → 49
    F-box-like

  4. NM_203373.3 → NP_976307.2  F-box and leucine-rich protein 22 isoform 1

    See identical proteins and their annotated locations for NP_976307.2

    Status: REVIEWED

    Source sequence(s)
    AA495872, AC118274, BC065833
    Consensus CDS
    CCDS10187.2
    UniProtKB/Swiss-Prot
    Q6P050
    Related
    ENSP00000353794.3, ENST00000360587.2
    Conserved Domains (1) summary
    pfam12937
    Location:9 → 55
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    63597387..63608516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432400.1 → XP_047288356.1  F-box and leucine-rich protein 22 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    61404626..61415756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377749.1 → XP_054233724.1  F-box and leucine-rich protein 22 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P050.2 GenPept UniProtKB/Swiss-Prot:Q6P050

Gene LinkOut

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

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