Format

Send to:

Choose Destination

FBXO46 F-box protein 46 [ Homo sapiens (human) ]

Gene ID: 23403, updated on 23-Nov-2021

Summary

Official Symbol
FBXO46provided by HGNC
Official Full Name
F-box protein 46provided by HGNC
Primary source
HGNC:HGNC:25069
See related
Ensembl:ENSG00000177051 MIM:609117
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
Fbx46; FBXO34L; 20D7-FC4
Summary
Members of the F-box protein family, such as FBXO46, 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
Ubiquitous expression in spleen (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FBXO46 in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (45710629..45733177, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46213887..46236435, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein D2 polypeptide Neighboring gene glutaminyl-peptide cyclotransferase like Neighboring gene meiosis initiator Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA

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

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

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_001080469.2NP_001073938.1  F-box only protein 46

    See identical proteins and their annotated locations for NP_001073938.1

    Status: VALIDATED

    Source sequence(s)
    AC007191, AC007774
    Consensus CDS
    CCDS46116.1
    UniProtKB/Swiss-Prot
    Q6PJ61
    Related
    ENSP00000410007.1, ENST00000317683.4
    Conserved Domains (1) summary
    pfam12937
    Location:473507
    F-box-like; F-box-like
  2. NM_001329632.1NP_001316561.1  F-box only protein 46

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
    Source sequence(s)
    AC007191
    Consensus CDS
    CCDS46116.1
    UniProtKB/Swiss-Prot
    Q6PJ61
    Conserved Domains (1) summary
    pfam12937
    Location:473507
    F-box-like; F-box-like
  3. NM_001329633.2NP_001316562.1  F-box only protein 46

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC007191, AC007774
    Consensus CDS
    CCDS46116.1
    UniProtKB/Swiss-Prot
    Q6PJ61
    Conserved Domains (1) summary
    pfam12937
    Location:473507
    F-box-like; F-box-like
  4. NM_001329634.1NP_001316563.1  F-box only protein 46

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC007191, AC007774
    Consensus CDS
    CCDS46116.1
    UniProtKB/Swiss-Prot
    Q6PJ61
    Conserved Domains (1) summary
    pfam12937
    Location:473507
    F-box-like; F-box-like

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    45710629..45733177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center