FBXO38

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	5q32	Start	148,383,935 bp^[1]
Band	5q32	End	148,442,836 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 18 (mouse)^[2]

Band	18\|18 E1	Start	62,504,155 bp^[2]
Band	18\|18 E1	End	62,548,695 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS

n/a

Orthologs

Species

Human

Mouse

Entrez


81545


107035

Ensembl


ENSG00000145868


ENSMUSG00000042211

UniProt


Q6PIJ6


Q8BMI0

RefSeq (mRNA)


NM_001271723 NM_030793 NM_205836


NM_134136 NM_001361088 NM_001361089 NM_001361090 NM_001361091

RefSeq (protein)


NP_001258652 NP_110420 NP_995308


NP_598897 NP_001348017 NP_001348018 NP_001348019 NP_001348020

Location (UCSC)

Chr 5: 148.38 – 148.44 Mb

Chr 18: 62.5 – 62.55 Mb

PubMed search

^[3]

^[4]

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.