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

Gene ID: 222235, updated on 27-Nov-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
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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 SNF2 related chromatin remodeling ATPase 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
  • 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 Variation Viewer (GRCh37.p13)

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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