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    FBXO40 F-box protein 40 [ Homo sapiens (human) ]

    Gene ID: 51725, updated on 27-Nov-2024

    Summary

    Official Symbol
    FBXO40provided by HGNC
    Official Full Name
    F-box protein 40provided by HGNC
    Primary source
    HGNC:HGNC:29816
    See related
    Ensembl:ENSG00000163833 MIM:609107; AllianceGenome:HGNC:29816
    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
    FBX40
    Summary
    Members of the F-box protein family, such as FBXO40, 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
    Restricted expression toward heart (RPKM 38.1) See more
    Orthologs
    NEW
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    Genomic context

    See FBXO40 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121593379..121630295)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124313284..124350193)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121312226..121349142)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene arginine-fifty homeobox Neighboring gene small nucleolar RNA U13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:121311583-121312782 Neighboring gene MPRA-validated peak4794 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:121333579-121334079 Neighboring gene MPRA-validated peak4795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20344 Neighboring gene hematopoietic cell-specific Lyn substrate 1 Neighboring gene RNA, 7SL, cytoplasmic 172, pseudogene Neighboring gene RNA, U4 small nuclear 62, pseudogene

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
    EBI GWAS Catalog
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1195, MGC129902, MGC129903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    F-box only protein 40
    Names
    muscle disease-related 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.

    mRNA and Protein(s)

    1. NM_016298.4NP_057382.2  F-box only protein 40

      See identical proteins and their annotated locations for NP_057382.2

      Status: VALIDATED

      Source sequence(s)
      AB033021, AC063920, BC109275, DB081227
      Consensus CDS
      CCDS33835.1
      UniProtKB/Swiss-Prot
      B2RAX7, Q32M70, Q9UH90, Q9ULM5
      Related
      ENSP00000337510.4, ENST00000338040.6
      Conserved Domains (2) summary
      pfam15965
      Location:12104
      zf-TRAF_2; TRAF-like zinc-finger
      pfam15966
      Location:573681
      F-box_4; F-box

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      121593379..121630295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      124313284..124350193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)