U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 286151, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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; AllianceGenome:HGNC:28521
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; OOMD12; SPGF64; OZEMA12
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8q22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100133351..100150569, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101258131..101275344, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101145579..101158045, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100904777-100905425 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100905426-100906073 Neighboring gene MPRA-validated peak7123 silencer Neighboring gene cytochrome c oxidase subunit 6C Neighboring gene ReSE screen-validated silencer GRCh37_chr8:100947244-100947479 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:100955411-100956610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:100959374-100959874 Neighboring gene regulator of G protein signaling 22 Neighboring gene small nucleolar RNA, C/D box 77B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101162699-101163202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19409 Neighboring gene RNA polymerase II, I and III subunit K Neighboring gene sperm associated antigen 1 Neighboring gene UFM1 pseudogene 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Clinical significance of FBXO43 in hepatocellular carcinoma and its impact on tumor cell proliferation, migration and invasion. Ma R, et al. PeerJ, 2023. PMID 37250703, Free PMC Article
  2. Association between F-box-only protein 43 overexpression and hepatocellular carcinoma pathogenesis and prognosis. Wu S, et al. Cancer Med, 2023 Apr. PMID 36710413, Free PMC Article
  3. EMI2 expression as a poor prognostic factor in patients with breast cancer. Vadhan A, et al. Kaohsiung J Med Sci, 2020 Aug. PMID 32253818
  4. A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. Ma Y, et al. Fertil Steril, 2019 May. PMID 30878252
  5. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Wang W, et al. Hum Reprod, 2021 Jul 19. PMID 34052850

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical significance of FBXO43 in hepatocellular carcinoma and its impact on tumor cell proliferation, migration and invasion.
    Title: Clinical significance of FBXO43 in hepatocellular carcinoma and its impact on tumor cell proliferation, migration and invasion.
  2. Association between F-box-only protein 43 overexpression and hepatocellular carcinoma pathogenesis and prognosis.
    Title: Association between F-box-only protein 43 overexpression and hepatocellular carcinoma pathogenesis and prognosis.
  3. A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.
    Title: A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.
  4. Downregulation of the FBXO43 gene inhibits tumor growth in human breast cancer by limiting its interaction with PCNA.
    Title: Downregulation of the FBXO43 gene inhibits tumor growth in human breast cancer by limiting its interaction with PCNA.
  5. EMI2 expression as a poor prognostic factor in patients with breast cancer.
    Title: EMI2 expression as a poor prognostic factor in patients with breast cancer.
  6. FBXO43 variants in patients with female infertility characterized by early embryonic arrest.
    Title: FBXO43 variants in patients with female infertility characterized by early embryonic arrest.
  7. The mutation in FBXO43 is a causative factor of male infertility and teratozoospermia.
    Title: A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family.
  8. Cdc2 and Mos regulate Emi2 stability to promote the meiosis I-meiosis II transition
    Title: Cdc2 and Mos regulate Emi2 stability to promote the meiosis I-meiosis II transition.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Oocyte maturation defect 12
MedGen: C5562063 OMIM: 619697 GeneReviews: Not available
not available
Spermatogenic failure 64
MedGen: C5562062 OMIM: 619696 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell cycle process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of meiotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
F-box only protein 43
Names
early mitotic inhibitor 2
endogenous meiotic inhibitor 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001029860.4 → NP_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:508 → 547
    FBOX; A Receptor for Ubiquitination Targets
    pfam01485
    Location:626 → 677
    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: 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_000008.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516990.2 → XP_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:635 → 686
    IBR; IBR domain, a half RING-finger domain

  2. XM_011516987.4 → XP_011515289.1  F-box only protein 43 isoform X1

    Conserved Domains (1) summary
    pfam01485
    Location:669 → 720
    IBR; IBR domain, a half RING-finger domain

  3. XM_047421720.1 → XP_047277676.1  F-box only protein 43 isoform X4

  4. XM_047421719.1 → XP_047277675.1  F-box only protein 43 isoform X3

  5. XM_017013358.3 → XP_016868847.1  F-box only protein 43 isoform X4

  6. XM_011516992.4 → XP_011515294.1  F-box only protein 43 isoform X3

    See identical proteins and their annotated locations for XP_011515294.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    101258131..101275344 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360344.1 → XP_054216319.1  F-box only protein 43 isoform X2

  2. XM_054360343.1 → XP_054216318.1  F-box only protein 43 isoform X1

  3. XM_054360347.1 → XP_054216322.1  F-box only protein 43 isoform X4

  4. XM_054360345.1 → XP_054216320.1  F-box only protein 43 isoform X3

  5. XM_054360348.1 → XP_054216323.1  F-box only protein 43 isoform X4

  6. XM_054360346.1 → XP_054216321.1  F-box only protein 43 isoform X3

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4G163.3 GenPept UniProtKB/Swiss-Prot:Q4G163

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous