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    FBXW11 F-box and WD repeat domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 23291, updated on 11-Apr-2024

    Summary

    Official Symbol
    FBXW11provided by HGNC
    Official Full Name
    F-box and WD repeat domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:13607
    See related
    Ensembl:ENSG00000072803 MIM:605651; AllianceGenome:HGNC:13607
    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
    Hos; BTRC2; FBW1B; Fbw11; BTRCP2; FBXW1B; NEDJED
    Summary
    This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 22.1), heart (RPKM 11.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5q35.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (171861549..172006638, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (172401847..172546952, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (171288553..171433642, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377725 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:171221789-171222988 Neighboring gene Sharpr-MPRA regulatory region 9260 Neighboring gene uncharacterized LOC107986476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171349530-171350030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171350031-171350531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171370553-171371052 Neighboring gene Sharpr-MPRA regulatory region 1765 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:171407408-171407976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171410187-171410959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171433526-171434153 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171435409-171436036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171481332-171482159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171482683-171483182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171482181-171482682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23620 Neighboring gene serine/threonine kinase 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171528850-171529636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171542101-171542601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171571210-171571710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23624 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:171578576-171578751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171591501-171592480 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:171602275-171602501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171606399-171607102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171615213-171615988 Neighboring gene EF-hand calcium binding domain 9

    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
    Neurodevelopmental, jaw, eye, and digital syndrome
    MedGen: C5394477 OMIM: 618914 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2011-12-07)

    ClinGen Genome Curation Page
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated 2011-12-07)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of F-box and WD repeat domain containing 11 (FBXW11) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with F-box and WD-40 domain protein 11 (FBXW11; FBW1B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    vpu Co-expression of HIV-1 Vpu with beta-TrCP2 induces degradation of total cellular CD4 content; Vpu-mediated CD4 down-modulation is inhibited by double silencing of beta-TrCP1 and beta-TrCP2 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0696

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule plus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in germ cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule organizing center organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in retrograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of microtubule associated complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box/WD repeat-containing protein 11
    Names
    F-box and WD repeats protein beta-TrCP2
    F-box and WD-40 domain protein 11
    F-box and WD-40 domain protein 1B
    F-box protein Fbw1b
    F-box/WD repeat-containing protein 1B
    beta-transducin repeat-containing protein 2
    homologous to Slimb protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009275.2 RefSeqGene

      Range
      5236..150325
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001378974.1NP_001365903.1  F-box/WD repeat-containing protein 11 isoform D

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Consensus CDS
      CCDS93825.1
      UniProtKB/TrEMBL
      E5RGC1
      Related
      ENSP00000428753.2, ENST00000517395.6
      Conserved Domains (4) summary
      cd00200
      Location:261539
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:264299
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:99137
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:141188
      F-box-like
    2. NM_001378975.1NP_001365904.1  F-box/WD repeat-containing protein 11 isoform E

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Conserved Domains (4) summary
      cd00200
      Location:238516
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:241276
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:78116
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:120165
      F-box-like
    3. NM_001378976.1NP_001365905.1  F-box/WD repeat-containing protein 11 isoform F

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Conserved Domains (4) summary
      cd00200
      Location:229507
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:232267
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:67105
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:109156
      F-box-like
    4. NM_001378977.1NP_001365906.1  F-box/WD repeat-containing protein 11 isoform G

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      UniProtKB/TrEMBL
      B4DH70
      Conserved Domains (4) summary
      cd00200
      Location:208486
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:211246
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:4684
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:88135
      F-box-like
    5. NM_001378978.1NP_001365907.1  F-box/WD repeat-containing protein 11 isoform G

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      UniProtKB/TrEMBL
      B4DH70
      Conserved Domains (4) summary
      cd00200
      Location:208486
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:211246
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:4684
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:88135
      F-box-like
    6. NM_001378979.1NP_001365908.1  F-box/WD repeat-containing protein 11 isoform H

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Conserved Domains (4) summary
      cd00200
      Location:208486
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:211246
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:4684
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:88135
      F-box-like
    7. NM_001378980.1NP_001365909.1  F-box/WD repeat-containing protein 11 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Consensus CDS
      CCDS47340.1
      Conserved Domains (4) summary
      cd00200
      Location:206484
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:209244
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:4482
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:86133
      F-box-like
    8. NM_012300.3NP_036432.2  F-box/WD repeat-containing protein 11 isoform C

      See identical proteins and their annotated locations for NP_036432.2

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Consensus CDS
      CCDS34289.1
      UniProtKB/Swiss-Prot
      B2RC98, Q9P2S8, Q9P2S9, Q9UKB1, Q9Y4C6
      Related
      ENSP00000265094.5, ENST00000265094.9
      Conserved Domains (4) summary
      cd00200
      Location:240518
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:243278
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:78116
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:120167
      F-box-like
    9. NM_033644.3NP_387448.2  F-box/WD repeat-containing protein 11 isoform B

      See identical proteins and their annotated locations for NP_387448.2

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Consensus CDS
      CCDS47341.1
      UniProtKB/Swiss-Prot
      Q9UKB1
      Related
      ENSP00000296933.6, ENST00000296933.10
      Conserved Domains (4) summary
      cd00200
      Location:227505
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:230265
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:65103
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:107154
      F-box-like
    10. NM_033645.3NP_387449.2  F-box/WD repeat-containing protein 11 isoform A

      See identical proteins and their annotated locations for NP_387449.2

      Status: REVIEWED

      Source sequence(s)
      AC011387, AC011410, AC113342
      Consensus CDS
      CCDS47340.1
      UniProtKB/Swiss-Prot
      Q9UKB1
      Related
      ENSP00000377391.2, ENST00000393802.6
      Conserved Domains (4) summary
      cd00200
      Location:206484
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:209244
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:4482
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:86133
      F-box-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      171861549..172006638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417023.1XP_047272979.1  F-box/WD repeat-containing protein 11 isoform X3

    2. XM_017009279.2XP_016864768.1  F-box/WD repeat-containing protein 11 isoform X1

    3. XM_005265857.2XP_005265914.1  F-box/WD repeat-containing protein 11 isoform X2

      See identical proteins and their annotated locations for XP_005265914.1

      Conserved Domains (4) summary
      cd00200
      Location:213491
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:216251
      7WD40; WD40 repeat [structural motif]
      pfam12125
      Location:5189
      Beta-TrCP_D; D domain of beta-TrCP
      pfam12937
      Location:93140
      F-box-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      172401847..172546952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352218.1XP_054208193.1  F-box/WD repeat-containing protein 11 isoform X3

    2. XM_054352216.1XP_054208191.1  F-box/WD repeat-containing protein 11 isoform X1

    3. XM_054352217.1XP_054208192.1  F-box/WD repeat-containing protein 11 isoform X2