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

Gene ID: 374286, updated on 26-Nov-2021

Summary

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
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
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Genomic context

See FBXW10B in Genome Data Viewer
Location:
17p12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15565482..15619704, complement)
105.20201022 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 Sharpr-MPRA regulatory region 550 Neighboring gene trans-golgi network vesicle protein 23 homolog C Neighboring gene peptidylprolyl isomerase A pseudogene 53 Neighboring gene proximal CMT1A-REP Neighboring gene tripartite motif containing 16 Neighboring gene ZNF286A-TBC1D26 readthrough (NMD candidate) 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

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

General gene information

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

Preferred Names
CMT1A duplicated region transcript 1 protein
Names
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_001282540.2NP_001269469.1  CMT1A duplicated region transcript 1 protein 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, Q9BXD7
    Related
    ENSP00000379026.2, ENST00000395667.7
    Conserved Domains (3) summary
    COG2319
    Location:416652
    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_006382.4NP_006373.2  CMT1A duplicated region transcript 1 protein 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
    O95170
    UniProtKB/TrEMBL
    Q59EB2
    Related
    ENSP00000379242.4, ENST00000395906.8
    Conserved Domains (3) summary
    COG2319
    Location:416673
    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]

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_000017.11 Reference GRCh38.p13 Primary Assembly

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