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

Gene ID: 374286, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15565482..15619704, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15471700..15525926, complement)
105.20220307 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 (10) 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)

Genotypes

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_2023_10

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

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