FBXO38

FBXO38
Identifiers
Aliases	FBXO38, Fbx38, HMN2D, MOKA, SP329, F-box protein 38, FBX38
External IDs	OMIM: 608533; MGI: 2444639; GeneCards: FBXO38; OMA:FBXO38 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	148,442,836 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	62,548,695 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; endothelial cell; ; germinal epithelium; ; corpus callosum; ; epithelium of colon; ; blood; ; epithelium of nasopharynx; ; bone marrow; ; sural nerve; ; stromal cell of endometrium;
	Top expressed in
	saccule; ; otic placode; ; otic vesicle; ; Ileal epithelium; ; granulocyte; ; endocardial cushion; ; blood; ; median eminence; ; spermatocyte; ; arcuate nucleus;
	More reference expression data
	n/a
Orthologs
	81545
	107035
	ENSG00000145868
	ENSMUSG00000042211
	Q6PIJ6
	Q8BMI0
	NM_001271723; NM_030793; NM_205836
	NM_134136; NM_001361088; NM_001361089; NM_001361090; NM_001361091
	NP_001258652; NP_110420; NP_995308
	NP_598897; NP_001348017; NP_001348018; NP_001348019; NP_001348020
	Wikidata
View/Edit Human	View/Edit Mouse

F-box only protein 38 (FBXO38) is a protein that in humans is encoded by the FBXO38 gene.

Mutations in the FBXO38 gene are associated with distal spinal muscular atrophy with calf predominance. FBXO38 controls the composition of centromeric chromatin via the stability of ZXDA/B nuclear factors.^[5] Mice deficient in Fbxo38 gene have defective spermatogenesis and are growth retarded.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000145868 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042211 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Dibus N, Korinek V, Cermak L (23 June 2022). "FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability". Frontiers in Cell and Developmental Biology. 10: 929288. doi:10.3389/fcell.2022.929288. PMC 9260856. PMID 35813202.
^ Dibus N, Zobalova E, Monleon MA, Korinek V, Filipp D, Petrusova J, et al. (13 June 2022). "FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation". Frontiers in Cell and Developmental Biology. 10: 914053. doi:10.3389/fcell.2022.914053. PMC 9234700. PMID 35769260.

External links

FBXO38 human gene location in the UCSC Genome Browser.
FBXO38 human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145868 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042211 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Dibus N, Korinek V, Cermak L (23 June 2022). "FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability". Frontiers in Cell and Developmental Biology. 10: 929288. doi:10.3389/fcell.2022.929288. PMC 9260856. PMID 35813202.

[6] Dibus N, Zobalova E, Monleon MA, Korinek V, Filipp D, Petrusova J, et al. (13 June 2022). "FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation". Frontiers in Cell and Developmental Biology. 10: 914053. doi:10.3389/fcell.2022.914053. PMC 9234700. PMID 35769260.

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