SFXN1 - sideroflexin 1 Gene

Homo sapiens

Also known as TCC; SLC56A1

Gene ID: 94081 | Gene type: protein coding

About SFXN1

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:175,478,560-175,529,742 (from NCBI)

This gene has 12 transcripts (splice variants), 219 orthologues and 4 paralogues. Ubiquitous expression in liver (RPKM 20.2), kidney (RPKM 17.3) and 24 other tissues.

Summary

Enables D-serine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in D-serine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

SFXN1 Products(7)

mRNA	Protein	Name
NM_001322977.2	NP_001309906.1	sideroflexin-1 isoform 1
NM_001322978.2	NP_001309907.1	sideroflexin-1 isoform 2
NM_001322980.2	NP_001309909.1	sideroflexin-1 isoform 4
NM_001322981.2	NP_001309910.1	sideroflexin-1 isoform 4
NM_001322982.2	NP_001309911.1	sideroflexin-1 isoform 2
NM_001322983.2	NP_001309912.1	sideroflexin-1 isoform 3
NM_022754.7	NP_073591.2	sideroflexin-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-alanine transmembrane transporter activity	IDA IDA: Inferred from direct assay	30442778	GOA
enables L-serine transmembrane transporter activity	IDA IDA: Inferred from direct assay	30442778	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in L-alanine transport	IDA IDA: Inferred from direct assay	30442778	GOA
involved in L-serine transport	IDA IDA: Inferred from direct assay	30442778	GOA
acts upstream of one-carbon metabolic process	IDA IDA: Inferred from direct assay	30442778	GOA
involved in serine import into mitochondrion	IDA IDA: Inferred from direct assay	30442778	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27184847	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SFXN1 Protein Structure

Mtc

0
100
200
300
322 a.a.

Protein Preferred Names

Protein Names

sideroflexin-1

tricarboxylate carrier protein

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 18

Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome	COXPD18
Combined Oxidative Phosphorylation Deficiency, Type 18

Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency	Sard Deficiency
Sardh Deficiency	SARCOS
Hypersarcosinemia	Sardhd
Demethylation Defect Of N-Methylglycine

Neonatal Anemia

Anemia Neonatal	Anemia, Neonatal
Anaemia Neonatal	Neonatal Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12785	SFXN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SFXN1	RGD	RGD:1308482
Mus musculus	SFXN1	MGD	MGI:2137677
Bos taurus	SFXN1	VGNC	VGNC:34530
Felis catus	SFXN1	VGNC	VGNC:65069
Canis familiaris	SFXN1	VGNC	VGNC:46087
Macaca mulatta	SFXN1	VGNC	VGNC:77244

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