U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    FBXW10 F-box and WD repeat domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 10517, updated on 3-Nov-2024

    Summary

    Official Symbol
    FBXW10provided by HGNC
    Official Full Name
    F-box and WD repeat domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:1211
    See related
    Ensembl:ENSG00000171931 MIM:611679; AllianceGenome:HGNC:1211
    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
    HREP; Fbw10; SM25H2; SM2SH2
    Summary
    Members of the F-box protein family, such as FBXW10, 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 6.8) and esophagus (RPKM 0.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBXW10 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18744054..18779349)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18690047..18725498)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18647367..18682662)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 286B (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18585117-18585622 Neighboring gene forkhead box O3B Neighboring gene ubiquitin conjugating enzyme E2 S pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18601479-18602036 Neighboring gene tripartite motif containing 16 like (pseudogene) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:18621593-18622463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:18622464-18623334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18624898-18625462 Neighboring gene Sharpr-MPRA regulatory region 2370 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:18673855-18674355 Neighboring gene trans-golgi network vesicle protein 23 homolog B Neighboring gene NANOG hESC enhancer GRCh37_chr17:18706781-18707432 Neighboring gene coiled-coil domain-containing protein 144A-like Neighboring gene RNA, 7SL, cytoplasmic 627, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    F-box/WD repeat-containing protein 10
    Names
    F-box and WD-40 domain protein 10
    testicular tissue protein Li 69
    ubiquitin ligase specificity factor

    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.

    mRNA and Protein(s)

    1. NM_001267585.2NP_001254514.1  F-box/WD repeat-containing protein 10 isoform 1

      See identical proteins and their annotated locations for NP_001254514.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC107982, AL136822, AY729024, DB055860
      Consensus CDS
      CCDS11199.3
      UniProtKB/Swiss-Prot
      C9JRY8, C9JZD7, Q5XX13, Q8TC00, Q9H0F0
      Related
      ENSP00000379025.4, ENST00000395665.9
      Conserved Domains (3) summary
      COG2319
      Location:416679
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:418653
      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:457493
      7WD40; WD40 repeat [structural motif]
    2. NM_001267586.2NP_001254515.1  F-box/WD repeat-containing protein 10 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC107982, AL136822, DB055860
      Consensus CDS
      CCDS58524.1
      UniProtKB/Swiss-Prot
      Q5XX13
      Related
      ENSP00000306937.4, ENST00000301938.4
      Conserved Domains (3) summary
      COG2319
      Location:416621
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:418601
      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:457493
      7WD40; WD40 repeat [structural motif]
    3. NM_001411059.1NP_001397988.1  F-box/WD repeat-containing protein 10 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC107982
      Consensus CDS
      CCDS92270.1
      Related
      ENSP00000310382.4, ENST00000308799.8

    RNA

    1. NR_051988.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate 5' and 3' terminal exons, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107982, AK310383, AL136822, DB055860
      Related
      ENST00000574478.1

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18744054..18779349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024020.3XP_016879509.1  F-box/WD repeat-containing protein 10 isoform X12

      Conserved Domains (2) summary
      cd00200
      Location:469704
      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:508544
      7WD40; WD40 repeat [structural motif]
    2. XM_047435121.1XP_047291077.1  F-box/WD repeat-containing protein 10 isoform X1

    3. XM_047435122.1XP_047291078.1  F-box/WD repeat-containing protein 10 isoform X2

    4. XM_047435123.1XP_047291079.1  F-box/WD repeat-containing protein 10 isoform X3

    5. XM_047435124.1XP_047291080.1  F-box/WD repeat-containing protein 10 isoform X4

    6. XM_047435125.1XP_047291081.1  F-box/WD repeat-containing protein 10 isoform X5

    7. XM_047435132.1XP_047291088.1  F-box/WD repeat-containing protein 10 isoform X11

    8. XM_047435130.1XP_047291086.1  F-box/WD repeat-containing protein 10 isoform X9

    9. XM_047435127.1XP_047291083.1  F-box/WD repeat-containing protein 10 isoform X7

    10. XM_047435126.1XP_047291082.1  F-box/WD repeat-containing protein 10 isoform X6

    11. XM_047435129.1XP_047291085.1  F-box/WD repeat-containing protein 10 isoform X8

      UniProtKB/TrEMBL
      A0A140VJJ5
    12. XM_047435131.1XP_047291087.1  F-box/WD repeat-containing protein 10 isoform X10

    13. XM_011523625.3XP_011521927.1  F-box/WD repeat-containing protein 10 isoform X12

      Conserved Domains (2) summary
      cd00200
      Location:469704
      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:508544
      7WD40; WD40 repeat [structural motif]
    14. XM_017024021.3XP_016879510.1  F-box/WD repeat-containing protein 10 isoform X13

    15. XM_047435133.1XP_047291089.1  F-box/WD repeat-containing protein 10 isoform X14

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18690047..18725498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314709.1XP_054170684.1  F-box/WD repeat-containing protein 10 isoform X3

    2. XM_054314710.1XP_054170685.1  F-box/WD repeat-containing protein 10 isoform X4

    3. XM_054314711.1XP_054170686.1  F-box/WD repeat-containing protein 10 isoform X5

    4. XM_054314717.1XP_054170692.1  F-box/WD repeat-containing protein 10 isoform X11

    5. XM_054314719.1XP_054170694.1  F-box/WD repeat-containing protein 10 isoform X12

    6. XM_054314707.1XP_054170682.1  F-box/WD repeat-containing protein 10 isoform X1

    7. XM_054314708.1XP_054170683.1  F-box/WD repeat-containing protein 10 isoform X2

    8. XM_054314715.1XP_054170690.1  F-box/WD repeat-containing protein 10 isoform X9

    9. XM_054314718.1XP_054170693.1  F-box/WD repeat-containing protein 10 isoform X12

    10. XM_054314713.1XP_054170688.1  F-box/WD repeat-containing protein 10 isoform X7

    11. XM_054314720.1XP_054170695.1  F-box/WD repeat-containing protein 10 isoform X13

    12. XM_054314712.1XP_054170687.1  F-box/WD repeat-containing protein 10 isoform X6

    13. XM_054314714.1XP_054170689.1  F-box/WD repeat-containing protein 10 isoform X8

      UniProtKB/TrEMBL
      A0A140VJJ5
    14. XM_054314716.1XP_054170691.1  F-box/WD repeat-containing protein 10 isoform X10

    15. XM_054314721.1XP_054170696.1  F-box/WD repeat-containing protein 10 isoform X14

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031456.3: Suppressed sequence

      Description
      NM_031456.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.