1. Gene
  2. SFXN1 - sideroflexin 1 Gene

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

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

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

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