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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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

    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_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.

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