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

Gene ID: 222235, updated on 1-Aug-2020

Summary

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
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

Genomic context

See FBXL13 in Genome Data Viewer
Location:
7q22.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (102810966..103075216, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102453308..102715288, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 185 member A Neighboring gene ribosomal protein L7a pseudogene 39 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 leucine rich repeat containing 17 Neighboring gene Sharpr-MPRA regulatory region 11249 Neighboring gene nuclear factor, erythroid 4 Neighboring gene armadillo repeat containing 10 Neighboring gene crystallin zeta pseudogene 1 Neighboring gene N-acyl phosphatidylethanolamine phospholipase D Neighboring gene ribosomal protein L19 pseudogene 12

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38068, MGC21636

Gene Ontology Provided by GOA

Process Evidence Code Pubs
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
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 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001111038.2NP_001104508.1  dynein regulatory complex subunit 6 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
    Consensus CDS
    CCDS47678.1
    UniProtKB/Swiss-Prot
    Q8NEE6
    UniProtKB/TrEMBL
    Q8N1P0
    Related
    ENSP00000391550.2, ENST00000455112.6
    Conserved Domains (3) summary
    cd09293
    Location:375602
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:402427
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; F-box-like
  2. NM_001287150.2NP_001274079.1  dynein regulatory complex subunit 6 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
    Consensus CDS
    CCDS75649.1
    UniProtKB/Swiss-Prot
    Q8NEE6
    UniProtKB/TrEMBL
    Q8N1P0
    Related
    ENSP00000368607.3, ENST00000379305.7
    Conserved Domains (3) summary
    cd09293
    Location:439619
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:402427
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; F-box-like
  3. NM_145032.3NP_659469.3  dynein regulatory complex subunit 6 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
    Q8NEE6
    UniProtKB/TrEMBL
    Q8N1P0
    Related
    ENSP00000321927.4, ENST00000313221.8
    Conserved Domains (3) summary
    cd09293
    Location:439647
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:428452
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; 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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    102810966..103075216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250207.4XP_005250264.1  dynein regulatory complex subunit 6 isoform X5

    Conserved Domains (3) summary
    cd09293
    Location:496704
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:485509
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like
  2. XM_005250208.4XP_005250265.1  dynein regulatory complex subunit 6 isoform X8

    Conserved Domains (3) summary
    cd09293
    Location:465692
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:492517
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like
  3. XM_005250205.4XP_005250262.1  dynein regulatory complex subunit 6 isoform X1

    Conserved Domains (3) summary
    cd09293
    Location:529737
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:518542
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like
  4. XM_024446687.1XP_024302455.1  dynein regulatory complex subunit 6 isoform X12

    Conserved Domains (2) summary
    sd00034
    Location:251276
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:224451
    AMN1; Antagonist of mitotic exit network protein 1
  5. XM_006715898.3XP_006715961.1  dynein regulatory complex subunit 6 isoform X11

    Conserved Domains (3) summary
    cd09293
    Location:288496
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:277301
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:950
    F-box-like; F-box-like
  6. XM_017011850.2XP_016867339.1  dynein regulatory complex subunit 6 isoform X2

  7. XM_011515928.3XP_011514230.1  dynein regulatory complex subunit 6 isoform X4

    Conserved Domains (3) summary
    cd09293
    Location:529709
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:492517
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like
  8. XM_005250209.2XP_005250266.1  dynein regulatory complex subunit 6 isoform X9

    See identical proteins and their annotated locations for XP_005250266.1

    UniProtKB/Swiss-Prot
    Q8NEE6
    Conserved Domains (3) summary
    cd09293
    Location:439647
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:428452
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; F-box-like
  9. XM_017011852.1XP_016867341.1  dynein regulatory complex subunit 6 isoform X7

  10. XM_011515930.2XP_011514232.1  dynein regulatory complex subunit 6 isoform X9

    See identical proteins and their annotated locations for XP_011514232.1

    UniProtKB/Swiss-Prot
    Q8NEE6
    Conserved Domains (3) summary
    cd09293
    Location:439647
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:428452
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; F-box-like
  11. XM_017011853.1XP_016867342.1  dynein regulatory complex subunit 6 isoform X9

    UniProtKB/Swiss-Prot
    Q8NEE6
    Related
    ENSP00000388608.1, ENST00000436908.5
    Conserved Domains (3) summary
    cd09293
    Location:439647
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:428452
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:155201
    F-box-like; F-box-like
  12. XM_011515929.3XP_011514231.1  dynein regulatory complex subunit 6 isoform X6

    Conserved Domains (3) summary
    cd09293
    Location:529737
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:518542
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like
  13. XM_017011851.2XP_016867340.1  dynein regulatory complex subunit 6 isoform X3

  14. XM_011515932.3XP_011514234.1  dynein regulatory complex subunit 6 isoform X10

    Related
    ENSP00000368610.4, ENST00000379308.7
    Conserved Domains (3) summary
    cd09293
    Location:312497
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:337362
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:245291
    F-box-like; F-box-like

RNA

  1. XR_927408.3 RNA Sequence

  2. XR_927410.3 RNA Sequence

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