SFXN1

Protein-coding gene in the species Homo sapiens

SFXN1

Identifiers

Aliases

SFXN1, TCC, sideroflexin 1, SLC56A1

External IDs

OMIM: 615569; MGI: 2137677; HomoloGene: 41494; GeneCards: SFXN1; OMA:SFXN1 - orthologs

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

Band	5q35.2	Start	175,477,062 bp^[1]
Band	5q35.2	End	175,529,742 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 13 (mouse)^[2]

Band	13 B1\|13 28.4 cM	Start	54,225,888 bp^[2]
Band	13 B1\|13 28.4 cM	End	54,262,361 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

amniotic fluid

buccal mucosa cell

ventricular zone

liver

stromal cell of endometrium

right lobe of liver

ganglionic eminence

kidney tubule

endothelial cell

tendon of biceps brachii

Top expressed in

tunica adventitia of aorta

crypt of lieberkuhn of small intestine

human kidney

brown adipose tissue

right kidney

lacrimal gland

white adipose tissue

intestinal villus

left lobe of liver

parotid gland

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	ion transmembrane transporter activity L-serine transmembrane transporter activity D-serine transmembrane transporter activity
Cellular component	integral component of membrane membrane mitochondrion mitochondrial membranes integral component of mitochondrial inner membrane mitochondrial inner membrane
Biological process	erythrocyte differentiation ion transmembrane transport iron ion homeostasis iron ion transport ion transport transmembrane transport one-carbon metabolic process L-serine transport D-serine transport serine import into mitochondrion amino acid transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


94081


14057

Ensembl


ENSG00000164466


ENSMUSG00000021474

UniProt


Q9H9B4


Q99JR1

RefSeq (mRNA)

NM_022754 NM_001322977 NM_001322978 NM_001322980 NM_001322981
NM_001322982 NM_001322983


NM_027324

RefSeq (protein)

NP_001309906 NP_001309907 NP_001309909 NP_001309910 NP_001309911
NP_001309912 NP_073591


NP_081600

Location (UCSC)

Chr 5: 175.48 – 175.53 Mb

Chr 13: 54.23 – 54.26 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Sideroflexin-1 is a protein that in humans is encoded by the SFXN1 gene.^[5] According to Nora Kory et al., SFXN1 gene product has mitochondrial serine transporter activity.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164466 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021474 – 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: SFXN1 sideroflexin 1".
^ Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME, et al. (November 2018). "SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism". Science. 362 (6416): eaat9528. doi:10.1126/science.aat9528. PMC 6300058. PMID 30442778.

Kaplan RS, Mayor JA (October 1993). "Structure, function and regulation of the tricarboxylate transport protein from rat liver mitochondria". Journal of Bioenergetics and Biomembranes. 25 (5): 503–14. doi:10.1007/BF01108407. PMID 8132490. S2CID 24848406.
Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Fleming MD, Campagna DR, Haslett JN, Trenor CC, Andrews NC (March 2001). "A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice". Genes & Development. 15 (6): 652–7. doi:10.1101/gad.873001. PMC 312659. PMID 11274051.
Zara V, Giudetti AM, Siculella L, Palmieri F, Gnoni GV (November 2001). "Covariance of tricarboxylate carrier activity and lipogenesis in liver of polyunsaturated fatty acid (n-6) fed rats". European Journal of Biochemistry. 268 (22): 5734–9. doi:10.1046/j.0014-2956.2001.02508.x. PMID 11722557.
Miyake S, Yamashita T, Taniguchi M, Tamatani M, Sato K, Tohyama M (July 2002). "Identification and characterization of a novel mitochondrial tricarboxylate carrier". Biochemical and Biophysical Research Communications. 295 (2): 463–8. doi:10.1016/S0006-291X(02)00694-0. PMID 12150972.
Giudetti AM, Sabetta S, di Summa R, Leo M, Damiano F, Siculella L, Gnoni GV (November 2003). "Differential effects of coconut oil- and fish oil-enriched diets on tricarboxylate carrier in rat liver mitochondria". Journal of Lipid Research. 44 (11): 2135–41. doi:10.1194/jlr.M300237-JLR200. PMID 14634051.
Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
Siculella L, Damiano F, Sabetta S, Gnoni GV (July 2004). "n-6 PUFAs downregulate expression of the tricarboxylate carrier in rat liver by transcriptional and posttranscriptional mechanisms". Journal of Lipid Research. 45 (7): 1333–40. doi:10.1194/jlr.M400061-JLR200. PMID 15060089.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Siculella L, Sabetta S, Damiano F, Giudetti AM, Gnoni GV (December 2004). "Different dietary fatty acids have dissimilar effects on activity and gene expression of mitochondrial tricarboxylate carrier in rat liver". FEBS Letters. 578 (3): 280–4. doi:10.1016/j.febslet.2004.11.014. PMID 15589833. S2CID 24071277.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.