SLC13A1 - solute carrier family 13 member 1 Gene

Also Known as NAS1; NaSi-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6561

About SLC13A1

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,113,531-123,199,971 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 5 paralogues. Biased expression in kidney (RPKM 26.2), small intestine (RPKM 5.7) and 1 other tissue.

Summary

The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]

SLC13A1 Products (2)

mRNA Protein Name
NM_001324400.1 NP_001311329.1 solute carrier family 13 member 1 isoform 2
NM_022444.4 NP_071889.2 solute carrier family 13 member 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables sodium:sulfate symporter activity IDA
IDA: Inferred from direct assay
11161786 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

SLC13A1 Protein Structure

Na_sulph_symp

Na_sulph_symp: Sodium:sulfate symporter transmembrane region (9 - 577)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 595 a.a.
Protein Preferred Names Protein Names

solute carrier family 13 member 1

  • Na(+)/sulfate cotransporter

Related Diseases

Diseases Alias
Achondrogenesis, Type Ib
  • ACG1B

  • Achondrogenesis Type Ib

  • Achondrogenesis Type 1b

  • Achondrogenesis Ib

  • Achondrogenesis Fraccaro Type

  • Achondrogenesis, Fraccaro Type

  • Achondrogenesis, Parenti-Fraccaro Type

  • Achondrogenesis 1b

  • Acg-Ib

  • Fraccaro Achondrogenesis

Nephrotic Syndrome, Type 14
  • Sphingosine Phosphate Lyase Insufficiency Syndrome

  • Nephrotic Syndrome 14

  • NPHS14

  • Splis

  • Nephrotic Syndrome Type 14

  • Sgpl1 Deficiency

  • Steroid-Resistant Nephrotic Syndrome Type 14

  • Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

  • Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Atelosteogenesis
  • Atelosteogenesis, Type 1

Developmental And Epileptic Encephalopathy 25
  • Developmental And Epileptic Encephalopathy, 25

  • Dee25

  • Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

  • Early Infantile Epileptic Encephalopathy 25

  • Encephalopathy, Epileptic, Early Infantile, Type 25

Brown-Vialetto-Van Laere Syndrome 2
  • BVVLS2

  • Rfvt3-Related Riboflavin Transporter Deficiency

  • Rtd3

  • Riboflavin Transporter Deficiency 3

  • Brown-Vialetto-Van Laere Syndrome, Type 2

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
Canis familiaris SLC13A1 VGNC VGNC:46227
Bos taurus SLC13A1 VGNC VGNC:34673
Felis catus SLC13A1 VGNC VGNC:65196
Mus musculus SLC13A1 MGD MGI:1859937
Rattus norvegicus SLC13A1 RGD RGD:61919
Macaca mulatta SLC13A1 VGNC VGNC:77391