SLC25A48

SLC25A48
Identifiers
Aliases	SLC25A48, solute carrier family 25 member 48
External IDs	OMIM: 616150; MGI: 2145373; GeneCards: SLC25A48
Gene location (Human)
Chr.	Chromosome 5 (human)
End	135,889,770 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	56,622,052 bp
RNA expression pattern
	Top expressed in
	tibial nerve; ; sural nerve; ; amygdala; ; tibia; ; hypothalamus; ; caudate nucleus; ; putamen; ; cingulate gyrus; ; anterior cingulate cortex; ; right frontal lobe;
	Top expressed in
	zygote; ; secondary oocyte; ; primary oocyte; ; transitional epithelium of urinary bladder; ; lumbar spinal ganglion; ; fallopian tube; ; right kidney; ; uterus; ; left lobe of liver; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; L-ornithine transmembrane transporter activity; transmembrane transporter activity; acyl carnitine transmembrane transporter activity;
Cellular component	membrane; mitochondrion; mitochondrial inner membrane; integral component of membrane;
Biological process	transmembrane transport; mitochondrial transport; L-ornithine transmembrane transport; acyl carnitine transport; acyl carnitine transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	153328
	328258
	ENSG00000145832
	ENSMUSG00000021509
	Q6ZT89
	Q8BW66
	NM_145282; NM_001349335; NM_001349336; NM_001349345
	NM_177809
	NP_660325; NP_001336264; NP_001336265; NP_001336274
	NP_808477
	Wikidata
View/Edit Human	View/Edit Mouse

Solute carrier family 25 member 48 is a protein that in humans is encoded by the SLC25A48 gene. This gene encodes a mitochondrial choline carrier. Mutations in this gene are associated with serum choline levels and impact betaine synthesis.

The protein is expressed in the inner membrane of the mitochondria and enriched in brown adipose tissue.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000145832 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021509 – 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.
↑ "Entrez Gene: Solute carrier family 25 member 48". Retrieved 2024-07-08.
↑ Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC; et al. (2024). "Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import". Nat Genet. 56 (8): 1614–1623. doi:10.1038/s41588-024-01827-2. PMC 11887816. PMID 38977856.{{cite journal}}: CS1 maint: multiple names: authors list (link)
↑ Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S (2024). "SLC25A48 controls mitochondrial choline import and metabolism". Cell Metabolism. 36 (9): 2156–2166.e9. bioRxiv 10.1101/2023.12.31.573776. doi:10.1016/j.cmet.2024.07.010.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000145832 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021509 – 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.

[entrez-5] "Entrez Gene: Solute carrier family 25 member 48". Retrieved 2024-07-08.

[pmid38977856-6] Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC; et al. (2024). "Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import". Nat Genet. 56 (8): 1614–1623. doi:10.1038/s41588-024-01827-2. PMC 11887816. PMID 38977856.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid38260464-7] Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S (2024). "SLC25A48 controls mitochondrial choline import and metabolism". Cell Metabolism. 36 (9): 2156–2166.e9. bioRxiv 10.1101/2023.12.31.573776. doi:10.1016/j.cmet.2024.07.010.{{cite journal}}: CS1 maint: multiple names: authors list (link)