Fbxo43 F-box protein 43 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbxo43provided by MGI
Official Full Name: F-box protein 43provided by MGI
Primary source: MGI:MGI:1926053
See related: Ensembl:ENSMUSG00000048230 AllianceGenome:MGI:1926053
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Emi2; 4930533G20Rik
Summary: Predicted to enable zinc ion binding activity. Acts upstream of or within negative regulation of meiotic nuclear division and negative regulation of protein catabolic process. Located in female germ cell nucleus. Is expressed in early conceptus and gonad. Human ortholog(s) of this gene implicated in spermatogenic failure 64. Orthologous to human FBXO43 (F-box protein 43). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis adult (RPKM 3.7) See more
Orthologs: human all
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Genomic context

Location:: 15 B3.1; 15 14.46 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (36150206..36170086, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (36150060..36169940, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
besides regulating cell-cycle arrest in mouse eggs, Emi2 is essential for meiosis I progression in spermatocytes. In the absence of Emi2, spermatocytes arrest in early diplotene of prophase I.
Title: Emi2 Is Essential for Mouse Spermatogenesis.
Data suggest that the increase of Wee 1 tyrosine kinase but decrease of early mitotic inhibitor 2 level triggers maturation promoting factor (MPF) destabilization and thereby postovulatory aging-mediated abortive spontaneous egg activation in eggs.
Title: Maturation promoting factor destabilization facilitates postovulatory aging-mediated abortive spontaneous egg activation in rat.
These results suggest that in addition to the Mos-MEK1/2 pathway, the Mos-mediated p38 pathway may be implicated in metaphase-II arrest.
Title: Possible role of p38 MAPK-MNK1-EMI2 cascade in metaphase-II arrest of mouse oocytes.
data support the conclusion that zinc itself, through its interaction with EMI2, is a central component of the cytostatic factor
Title: A zinc-dependent mechanism regulates meiotic progression in mammalian oocytes.
phosphorylation was required for up-regulation of the EMI2 activity in the oocytes. These results suggest that mouse MSK1 may play a key role in the metaphase-II arrest through phosphorylation of EMI2
Title: Possible involvement of mitogen- and stress-activated protein kinase 1, MSK1, in metaphase-II arrest through phosphorylation of EMI2 in mouse oocytes.
separable N- and C-terminal domains of mouse Emi2 modulated metaphase establishment and maintenance, respectively, through indirect and direct mechanisms.
Title: Mouse Emi2 as a distinctive regulatory hub in second meiotic metaphase.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fbxo43 (e-PCR), detects polymorphism
- UniSTS:496550

Gene Ontology Provided by MGI

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
acts_upstream_of meiotic nuclear division	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell cycle process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of meiotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of meiotic nuclear division	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of meiotic nuclear division	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitotic nuclear division	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in female germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
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: XErp1 homolog; 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)

NM_001081253.2 → NP_001074722.1 F-box only protein 43 isoform 2

See identical proteins and their annotated locations for NP_001074722.1

Status: VALIDATED

Source sequence(s)

AC121577

Consensus CDS

CCDS37060.1

UniProtKB/Swiss-Prot

Q4G0C8, Q8CDI2, Q8R0R1

UniProtKB/TrEMBL

G3X9B2

Related

ENSMUSP00000054125.4, ENSMUST00000058643.4

Conserved Domains (1) summary

pfam01485
Location:559 → 610

IBR; IBR domain, a half RING-finger domain
NM_001368658.1 → NP_001355587.1 F-box only protein 43 isoform 1

Status: VALIDATED

Source sequence(s)

AC121577

UniProtKB/Swiss-Prot

Q4G0C8, Q8CDI2, Q8R0R1

Conserved Domains (1) summary

pfam01485
Location:606 → 657

IBR; IBR domain, a half RING-finger domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

36150206..36170086 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316803.1 → XP_017172292.1 F-box only protein 43 isoform X1

UniProtKB/Swiss-Prot

Q4G0C8, Q8CDI2, Q8R0R1

UniProtKB/TrEMBL

G3X9B2

Conserved Domains (1) summary

pfam01485
Location:559 → 610

IBR; IBR domain, a half RING-finger domain
XM_006520197.3 → XP_006520260.1 F-box only protein 43 isoform X1

See identical proteins and their annotated locations for XP_006520260.1

UniProtKB/Swiss-Prot

Q4G0C8, Q8CDI2, Q8R0R1

UniProtKB/TrEMBL

G3X9B2

Conserved Domains (1) summary

pfam01485
Location:559 → 610

IBR; IBR domain, a half RING-finger domain
XM_011245385.1 → XP_011243687.1 F-box only protein 43 isoform X1

See identical proteins and their annotated locations for XP_011243687.1

UniProtKB/Swiss-Prot

Q4G0C8, Q8CDI2, Q8R0R1

UniProtKB/TrEMBL

G3X9B2

Conserved Domains (1) summary

pfam01485
Location:559 → 610

IBR; IBR domain, a half RING-finger domain
XM_006520198.3 → XP_006520261.1 F-box only protein 43 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175281.1: Suppressed sequence

Description

NM_175281.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.