SFXN1 - sideroflexin 1 Gene

Also Known as TCC; SLC56A1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 94081

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 References 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 References 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 References 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

Mtc: Tricarboxylate carrier (16 - 322)

  • 0
  • 100
  • 200
  • 300
  • 322 a.a.
Protein Preferred Names Protein Names

sideroflexin-1

  • tricarboxylate carrier protein

SFXN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SFXN1 Q9H9B4 PGRMC2 Homo sapiens O15173
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 PGRMC2 Homo sapiens O15173
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 STOM Homo sapiens P27105
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 STOM Homo sapiens P27105
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 SCN3B Homo sapiens Q9NY72
Validated Y2H
32296183
Intra
SFXN1 Q9H9B4 SCN3B Homo sapiens Q9NY72
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 SCN3B Homo sapiens Q9NY72
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 MMD Homo sapiens Q15546
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 MMD Homo sapiens Q15546
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 HSD17B13 Homo sapiens Q7Z5P4
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 HSD17B13 Homo sapiens Q7Z5P4
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 SLC10A6 Homo sapiens Q3KNW5
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 SLC10A6 Homo sapiens Q3KNW5
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 SLC16A7 Homo sapiens O60669
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 SLC16A7 Homo sapiens O60669
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 SLC10A1 Homo sapiens Q14973
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 SLC10A1 Homo sapiens Q14973
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 TMX2 Homo sapiens Q9Y320
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra
SFXN1 Q9H9B4 TMX2 Homo sapiens Q9Y320
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 CIDEB Homo sapiens Q9UHD4
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 CIDEB Homo sapiens Q9UHD4
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 CIDEB Homo sapiens Q9UHD4
Validated Y2H
32296183
Intra
SFXN1 Q9H9B4 DDI1 Homo sapiens Q8WTU0
Anti Tag CoIP
28514442
Intra
SFXN1 Q9H9B4 DDI1 Homo sapiens Q8WTU0
Anti Tag CoIP
33961781
Intra
SFXN1 Q9H9B4 REEP4 Homo sapiens Q9H6H4
Y2H Array
32296183
Intra
SFXN1 Q9H9B4 REEP4 Homo sapiens Q9H6H4
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra
SFXN1 Q9H9B4 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra
SFXN1 Q9H9B4 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12785 SFXN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19741 Sfxn1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26237 Sfxn1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others SFXN1 NCBI