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    FBXL13 F-box and leucine rich repeat protein 13 [ Homo sapiens (human) ]

    Gene ID: 222235, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FBXL13provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 13provided by HGNC
    Primary source
    HGNC:HGNC:21658
    See related
    Ensembl:ENSG00000161040 MIM:609080; AllianceGenome:HGNC:21658
    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
    DRC6; Fbl13; CFAP169
    Summary
    Members of the F-box protein family, such as FBXL13, 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
    Biased expression in testis (RPKM 4.2), stomach (RPKM 0.9) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL13 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102811189..103074796, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104125872..104390180, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102451636..102715243, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 39 Neighboring gene family with sequence similarity 185 member A Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene Neighboring gene RNA, U6 small nuclear 1136, pseudogene Neighboring gene RN7SK pseudogene 198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 Neighboring gene NANOG hESC enhancer GRCh37_chr7:102541113-102541614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:102580673-102581173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:102584236-102584801 Neighboring gene leucine rich repeat containing 17 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:102613398-102614597 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102616989-102617150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102631963-102633162 Neighboring gene nuclear factor, erythroid 4 Neighboring gene Sharpr-MPRA regulatory region 7515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:102746161-102747030 Neighboring gene armadillo repeat containing 10 Neighboring gene crystallin zeta pseudogene 1 Neighboring gene N-acyl phosphatidylethanolamine phospholipase D Neighboring gene uncharacterized LOC105375434 Neighboring gene ribosomal protein L19 pseudogene 12

    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. Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22. Curtiss NP, et al. Genomics, 2005 May. PMID 15820312
    2. Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. He J, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24165912, Free PMC Article
    3. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. Tan MK, et al. Mol Cell, 2013 Oct 10. PMID 24035498, Free PMC Article
    4. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
    5. Systematic analysis and nomenclature of mammalian F-box proteins. Jin J, et al. Genes Dev, 2004 Nov 1. PMID 15520277, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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 identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    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

    • FLJ38068, MGC21636

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    F-box and leucine-rich repeat protein 13
    Names
    F-box/LRR-repeat protein 13
    cilia and flagella associated protein 169
    dynein regulatory complex subunit 6

    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.

    mRNA and Protein(s)

    1. NM_001111038.2 → NP_001104508.1  F-box and leucine-rich repeat protein 13 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AK095387, AK097537, AY359239, BG717734, BP378950
      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (3) summary
      cd09293
      Location:375 → 602
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:402 → 427
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:155 → 201
      F-box-like; F-box-like

    2. NM_001287150.2 → NP_001274079.1  F-box and leucine-rich repeat protein 13 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AK095387, AY359239, BC031285, BP378950
      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (3) summary
      cd09293
      Location:439 → 619
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:402 → 427
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:155 → 201
      F-box-like; F-box-like

    3. NM_001394494.2 → NP_001381423.1  F-box and leucine-rich repeat protein 13 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC073127
      Consensus CDS
      CCDS94164.1
      UniProtKB/TrEMBL
      C9JI88, E7ERH8
      Related
      ENSP00000390126.2, ENST00000440067.4
      Conserved Domains (4) summary
      cd09293
      Location:529 → 737
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:518 → 542
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:112 → 224
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    4. NM_145032.3 → NP_659469.3  F-box and leucine-rich repeat protein 13 isoform 1

      See identical proteins and their annotated locations for NP_659469.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK095387, AK097537, AY359239, BP378950
      Consensus CDS
      CCDS5726.1
      UniProtKB/Swiss-Prot
      C9J565, C9J566, Q6UVW7, Q6UVW8, Q75MN5, Q86UJ5, Q8N7Y4, Q8NEE6, Q8TCL2, Q8WUF9, Q8WUG0
      Related
      ENSP00000321927.4, ENST00000313221.8
      Conserved Domains (4) summary
      cd09293
      Location:439 → 647
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:428 → 452
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:17 → 132
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:155 → 199
      F-box-like

    RNA

    1. NR_105043.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK095387, AY359239, BC026121, BP378950
      Related
      ENST00000448002.6

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      102811189..103074796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011850.3 → XP_016867339.1  F-box and leucine-rich repeat protein 13 isoform X1

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:526 → 734
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:515 → 539
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:104 → 219
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:242 → 286
      F-box-like

    2. XM_005250207.5 → XP_005250264.1  F-box and leucine-rich repeat protein 13 isoform X4

      Conserved Domains (4) summary
      cd09293
      Location:496 → 704
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:485 → 509
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    3. XM_011515928.4 → XP_011514230.1  F-box and leucine-rich repeat protein 13 isoform X3

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:529 → 709
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:492 → 517
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    4. XM_005250208.5 → XP_005250265.1  F-box and leucine-rich repeat protein 13 isoform X6

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:465 → 692
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:492 → 517
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    5. XM_047420043.1 → XP_047275999.1  F-box and leucine-rich repeat protein 13 isoform X8

    6. XM_011515929.4 → XP_011514231.1  F-box and leucine-rich repeat protein 13 isoform X5

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:529 → 737
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:518 → 542
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    7. XM_017011852.2 → XP_016867341.1  F-box and leucine-rich repeat protein 13 isoform X7

      Conserved Domains (4) summary
      cd09293
      Location:484 → 692
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:473 → 497
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:62 → 177
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:200 → 244
      F-box-like

    8. XM_011515930.3 → XP_011514232.1  F-box and leucine-rich repeat protein 13 isoform X9

      See identical proteins and their annotated locations for XP_011514232.1

      UniProtKB/Swiss-Prot
      C9J565, C9J566, Q6UVW7, Q6UVW8, Q75MN5, Q86UJ5, Q8N7Y4, Q8NEE6, Q8TCL2, Q8WUF9, Q8WUG0
      Conserved Domains (4) summary
      cd09293
      Location:439 → 647
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:428 → 452
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:17 → 132
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:155 → 199
      F-box-like

    9. XM_017011853.2 → XP_016867342.1  F-box and leucine-rich repeat protein 13 isoform X9

      UniProtKB/Swiss-Prot
      C9J565, C9J566, Q6UVW7, Q6UVW8, Q75MN5, Q86UJ5, Q8N7Y4, Q8NEE6, Q8TCL2, Q8WUF9, Q8WUG0
      Conserved Domains (4) summary
      cd09293
      Location:439 → 647
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:428 → 452
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:17 → 132
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:155 → 199
      F-box-like

    10. XM_047420044.1 → XP_047276000.1  F-box and leucine-rich repeat protein 13 isoform X14

    11. XM_047420045.1 → XP_047276001.1  F-box and leucine-rich repeat protein 13 isoform X13

    12. XM_024446687.2 → XP_024302455.1  F-box and leucine-rich repeat protein 13 isoform X12

      UniProtKB/TrEMBL
      A0A8Q3WKA2
      Related
      ENSP00000511553.1, ENST00000694870.1
      Conserved Domains (2) summary
      cd09293
      Location:224 → 451
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:251 → 276
      LRR_AMN1; leucine-rich repeat [structural motif]

    13. XM_006715898.4 → XP_006715961.1  F-box and leucine-rich repeat protein 13 isoform X11

      UniProtKB/TrEMBL
      A0A8Q3WK56
      Related
      ENSP00000511554.1, ENST00000694871.1
      Conserved Domains (2) summary
      cd09293
      Location:288 → 496
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:277 → 301
      LRR_AMN1; leucine-rich repeat [structural motif]

    14. XM_017011851.3 → XP_016867340.1  F-box and leucine-rich repeat protein 13 isoform X2

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:529 → 737
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:518 → 542
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    15. XM_011515932.4 → XP_011514234.1  F-box and leucine-rich repeat protein 13 isoform X10

      UniProtKB/TrEMBL
      E7ERH8
      Conserved Domains (4) summary
      cd09293
      Location:312 → 497
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:337 → 362
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam08457
      Location:107 → 222
      Sfi1; Sfi1 spindle body protein
      pfam12937
      Location:245 → 289
      F-box-like

    RNA

    1. XR_927410.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      104125872..104390180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357577.1 → XP_054213552.1  F-box and leucine-rich repeat protein 13 isoform X1

    2. XM_054357580.1 → XP_054213555.1  F-box and leucine-rich repeat protein 13 isoform X4

    3. XM_054357579.1 → XP_054213554.1  F-box and leucine-rich repeat protein 13 isoform X3

    4. XM_054357582.1 → XP_054213557.1  F-box and leucine-rich repeat protein 13 isoform X6

    5. XM_054357583.1 → XP_054213558.1  F-box and leucine-rich repeat protein 13 isoform X7

    6. XM_054357586.1 → XP_054213561.1  F-box and leucine-rich repeat protein 13 isoform X9

    7. XM_054357585.1 → XP_054213560.1  F-box and leucine-rich repeat protein 13 isoform X9

    8. XM_054357587.1 → XP_054213562.1  F-box and leucine-rich repeat protein 13 isoform X15

    9. XM_054357589.1 → XP_054213564.1  F-box and leucine-rich repeat protein 13 isoform X11

      UniProtKB/TrEMBL
      A0A8Q3WK56

    10. XM_054357591.1 → XP_054213566.1  F-box and leucine-rich repeat protein 13 isoform X12

      UniProtKB/TrEMBL
      A0A8Q3WKA2

    11. XM_054357592.1 → XP_054213567.1  F-box and leucine-rich repeat protein 13 isoform X13

    12. XM_054357590.1 → XP_054213565.1  F-box and leucine-rich repeat protein 13 isoform X16

    13. XM_054357584.1 → XP_054213559.1  F-box and leucine-rich repeat protein 13 isoform X8

    14. XM_054357581.1 → XP_054213556.1  F-box and leucine-rich repeat protein 13 isoform X5

    15. XM_054357578.1 → XP_054213553.1  F-box and leucine-rich repeat protein 13 isoform X2

    16. XM_054357588.1 → XP_054213563.1  F-box and leucine-rich repeat protein 13 isoform X10

    RNA

    1. XR_008487540.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEE6.3 GenPept UniProtKB/Swiss-Prot:Q8NEE6

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