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    FBXW10B F-box and WD repeat domain containing 10B [ Homo sapiens (human) ]

    Gene ID: 374286, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBXW10Bprovided by HGNC
    Official Full Name
    F-box and WD repeat domain containing 10Bprovided by HGNC
    Primary source
    HGNC:HGNC:14379
    See related
    Ensembl:ENSG00000241322 MIM:604596; AllianceGenome:HGNC:14379
    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; CDRT1; SM25H2; C170RF1; C17ORF1; C17ORF1A; FBXW10P1
    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 603034), 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 6.6), esophagus (RPKM 1.0) and 9 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FBXW10B in Genome Data Viewer
    Location:
    17p12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15565482..15619704, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15471700..15525926, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15468796..15523018, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TVP23C-CDRT4 readthrough Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 Neighboring gene CMT1A duplicated region transcript 3 Neighboring gene Sharpr-MPRA regulatory region 6604 Neighboring gene trans-golgi network vesicle protein 23 homolog C Neighboring gene peptidylprolyl isomerase A pseudogene 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15439327-15439826 Neighboring gene NANOG hESC enhancer GRCh37_chr17:15443919-15444544 Neighboring gene proximal CMT1A-REP Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15495673-15496196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15545644-15546230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15546231-15546817 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15547662-15548477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15554223-15555172 Neighboring gene tripartite motif containing 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15562775-15563277 Neighboring gene ZNF286A-TBC1D26 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15602763-15603374 Neighboring gene zinc finger protein 29, pseudogene Neighboring gene zinc finger protein 286A Neighboring gene ubiquitin conjugating enzyme E2 S pseudogene 1

    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. Single test for two hereditary neuropathies, CMT1A and HNPP. Kennerson ML, et al. Clin Chem, 1995 Oct. PMID 7586531
    2. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. Kennerson ML, et al. Genomics, 1997 Nov 15. PMID 9403059
    3. Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat. Kennerson ML, et al. Genomics, 1998 Oct 1. PMID 9787083
    4. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Inoue K, et al. Genome Res, 2001 Jun. PMID 11381029, 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 (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TRIM16

    Homology

    Clone Names

    • DKFZp434O1826

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    F-box and WD repeat domain containing protein 10B
    Names
    CMT1A duplicated region transcript 1 protein
    Charcot-Marie-Tooth duplicated region transcript 1
    F-box and WD repeat domain containing 10 pseudogene 1
    F-box and WD-40 domain protein 10 pseudogene 1

    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_001282540.2 → NP_001269469.1  F-box and WD repeat domain containing protein 10B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has alternate 3' exon structure and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AC005324, AC005838, AF337810, AK057407, AW891009, BF091455, CB989113
      Consensus CDS
      CCDS73996.1
      UniProtKB/TrEMBL
      A0A087WSX6
      Related
      ENSP00000379026.2, ENST00000395667.7
      Conserved Domains (3) summary
      COG2319
      Location:416 → 652
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:418 → 653
      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:457 → 493
      7WD40; WD40 repeat [structural motif]

    2. NM_006382.4 → NP_006373.2  F-box and WD repeat domain containing protein 10B isoform a

      See identical proteins and their annotated locations for NP_006373.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AB209899, AC005324, AC005838, AK057407, BU738380, U65652
      Consensus CDS
      CCDS45619.1
      UniProtKB/Swiss-Prot
      O43848, O95170, O95611
      Related
      ENSP00000379242.4, ENST00000395906.8
      Conserved Domains (3) summary
      COG2319
      Location:416 → 673
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:418 → 653
      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:457 → 493
      7WD40; WD40 repeat [structural motif]

    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
      15565482..15619704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      15471700..15525926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95170.3 GenPept UniProtKB/Swiss-Prot:O95170

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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