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

    Gene ID: 283807, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63597387..63608516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61404626..61415756)
    RS_2024_09 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 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_2024_08

    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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