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

Gene ID: 51725, updated on 5-Aug-2022

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
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Genomic context

See FBXO40 in Genome Data Viewer
Location:
3q13.33
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121593379..121630295)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124313284..124350193)
105.20220307 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 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

Homology

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 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)