Format

Send to:

Choose Destination

FBXO43 F-box protein 43 [ Homo sapiens (human) ]

Gene ID: 286151, updated on 7-Jun-2020

Summary

Official Symbol
FBXO43provided by HGNC
Official Full Name
F-box protein 43provided by HGNC
Primary source
HGNC:HGNC:28521
See related
Ensembl:ENSG00000156509 MIM:609110
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
EMI2; ERP1; FBX43
Summary
Members of the F-box protein family, such as FBXO43, 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
Biased expression in testis (RPKM 4.9), lymph node (RPKM 0.6) and 2 other tissues See more
Orthologs

Genomic context

See FBXO43 in Genome Data Viewer
Location:
8q22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (100133351..100150569, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101145588..101158099, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 6C Neighboring gene regulator of G protein signaling 22 Neighboring gene small nucleolar RNA, C/D box 77B Neighboring gene ubiquitin fold modifier 1 pseudogene Neighboring gene RNA polymerase II, I and III subunit K Neighboring gene sperm associated antigen 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of meiotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
F-box only protein 43
Names
early mitotic inhibitor 2
endogenous meiotic inhibitor 2

NCBI Reference Sequences (RefSeq)

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_001029860.4NP_001025031.2  F-box only protein 43

    See identical proteins and their annotated locations for NP_001025031.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript but encodes the supported protein.
    Source sequence(s)
    AC021590, AI198884, AK310518, BC028709, BG391951, DA996924, DB088246
    Consensus CDS
    CCDS47904.1
    UniProtKB/Swiss-Prot
    Q4G163
    Related
    ENSP00000403293.2, ENST00000428847.3
    Conserved Domains (2) summary
    smart00256
    Location:508547
    FBOX; A Receptor for Ubiquitination Targets
    pfam01485
    Location:626677
    IBR; IBR domain, a half RING-finger domain

RNA

  1. NR_036491.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in its 5'-most exon, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC021590, BC028709, BC090892, BG391951, DA996924
    Related
    ENST00000517806.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    100133351..100150569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516990.1XP_011515292.1  F-box only protein 43 isoform X2

    See identical proteins and their annotated locations for XP_011515292.1

    Conserved Domains (1) summary
    pfam01485
    Location:635686
    IBR; IBR domain, a half RING-finger domain
  2. XM_011516989.3XP_011515291.1  F-box only protein 43 isoform X2

    See identical proteins and their annotated locations for XP_011515291.1

    Conserved Domains (1) summary
    pfam01485
    Location:635686
    IBR; IBR domain, a half RING-finger domain
  3. XM_011516987.3XP_011515289.1  F-box only protein 43 isoform X1

    Conserved Domains (1) summary
    pfam01485
    Location:669720
    IBR; IBR domain, a half RING-finger domain
  4. XM_017013358.2XP_016868847.1  F-box only protein 43 isoform X4

  5. XM_011516992.3XP_011515294.1  F-box only protein 43 isoform X3

    See identical proteins and their annotated locations for XP_011515294.1

RNA

  1. XR_001745525.2 RNA Sequence

  2. XR_001745524.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001077528.1: Suppressed sequence

    Description
    NM_001077528.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Support Center