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FBXL17 F-box and leucine rich repeat protein 17 [ Homo sapiens (human) ]

Gene ID: 64839, updated on 23-Nov-2021

Summary

Official Symbol
FBXL17provided by HGNC
Official Full Name
F-box and leucine rich repeat protein 17provided by HGNC
Primary source
HGNC:HGNC:13615
See related
Ensembl:ENSG00000145743 MIM:609083
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
Fbl17; Fbx13; FBXO13
Summary
Members of the F-box protein family, such as FBXL17, 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
Ubiquitous expression in thyroid (RPKM 4.5), brain (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

See FBXL17 in Genome Data Viewer
Location:
5q21.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (107859035..108382098, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (107194736..107717799, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 782, pseudogene Neighboring gene RN7SK pseudogene 122 Neighboring gene VISTA enhancer hs1345 Neighboring gene Sharpr-MPRA regulatory region 5089 Neighboring gene uncharacterized LOC105379114 Neighboring gene ribosomal protein S20 pseudogene 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
GeneReviews: Not available
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
GeneReviews: Not available
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC161422, MGC161424, DKFZp434C1715

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
F-box/LRR-repeat protein 17
Names
F-box only protein 13

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_001163315.3NP_001156787.2  F-box/LRR-repeat protein 17

    See identical proteins and their annotated locations for NP_001156787.2

    Status: VALIDATED

    Source sequence(s)
    AC008462, AC008513, AC011419, AC092274
    Consensus CDS
    CCDS54886.1
    UniProtKB/Swiss-Prot
    Q9UF56
    Related
    ENSP00000437464.2, ENST00000542267.7
    Conserved Domains (3) summary
    cd09293
    Location:411573
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    107859035..108382098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272048.4XP_005272105.1  F-box/LRR-repeat protein 17 isoform X1

    Conserved Domains (3) summary
    cd09293
    Location:411573
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  2. XM_011543574.3XP_011541876.1  F-box/LRR-repeat protein 17 isoform X2

    Conserved Domains (3) summary
    cd09293
    Location:411573
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  3. XM_011543575.2XP_011541877.1  F-box/LRR-repeat protein 17 isoform X3

    Conserved Domains (3) summary
    cd09293
    Location:411573
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  4. XM_011543578.2XP_011541880.1  F-box/LRR-repeat protein 17 isoform X6

    Conserved Domains (3) summary
    cd09293
    Location:411573
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  5. XM_011543577.2XP_011541879.1  F-box/LRR-repeat protein 17 isoform X5

    Conserved Domains (3) summary
    cd09293
    Location:411588
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  6. XM_011543576.3XP_011541878.1  F-box/LRR-repeat protein 17 isoform X4

    Conserved Domains (3) summary
    cd09293
    Location:411585
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:321368
    F-box-like; F-box-like
  7. XM_017009729.2XP_016865218.1  F-box/LRR-repeat protein 17 isoform X7

  8. XM_005272050.4XP_005272107.1  F-box/LRR-repeat protein 17 isoform X9

    Conserved Domains (2) summary
    cd09293
    Location:319497
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
  9. XM_011543580.2XP_011541882.1  F-box/LRR-repeat protein 17 isoform X8

    See identical proteins and their annotated locations for XP_011541882.1

    Conserved Domains (2) summary
    cd09293
    Location:319497
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]
  10. XM_011543579.2XP_011541881.1  F-box/LRR-repeat protein 17 isoform X8

    See identical proteins and their annotated locations for XP_011541881.1

    Conserved Domains (2) summary
    cd09293
    Location:319497
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:362387
    LRR_AMN1; leucine-rich repeat [structural motif]

RNA

  1. XR_427717.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022824.1: Suppressed sequence

    Description
    NM_022824.1: This RefSeq was permanently suppressed because the CDS was partial.
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