SLC3A1 - solute carrier family 3 member 1 Gene

Also Known as D2H; ATR1; NBAT; RBAT; CSNU1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6519

About SLC3A1

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:44,275,480-44,322,437 (from NCBI)

This gene has 10 transcripts (splice variants), 216 orthologues, 7 paralogues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 175.5), small intestine (RPKM 50.6) and 6 other tissues.

Summary

This gene encodes a type II membrane glycoprotein which is one of the components of the renal Amino acid Transporter which transports neutral and basic Amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

SLC3A1 Products (1)

mRNA Protein Name
NM_000341.4 NP_000332.2 neutral and basic amino acid transport protein rBAT

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12167606 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
32494597 GOA
Cellular Component GO Annotation Evidence References Source
located in brush border membrane IDA
IDA: Inferred from direct assay
12167606 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

SLC3A1 Protein Structure

Alpha-amylase

Alpha-amylase: Alpha amylase, catalytic domain (140 - 488)

  • 0
  • 200
  • 400
  • 600
  • 685 a.a.
Protein Preferred Names Protein Names

neutral and basic amino acid transport protein rBAT

  • B(0,+)-type amino acid transport protein

SLC3A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC3A1 Q07837 SLC7A9 Homo sapiens P82251
3D-EM
32494597
Intra
SLC3A1 Q07837 SLC7A9 Homo sapiens P82251
Comigration in SDS
32494597
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cystinuria

  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease
Hypotonia-Cystinuria Syndrome

  • Cystinuria With Mitochondrial Disease

  • 2p21 Microdeletion Syndrome

  • HCS

  • Homozygous 2p16 Deletion Syndrome, Formerly

  • 2p21 Deletion Syndrome

  • Del(2)(P21)

  • Monosomy 2p21

  • Atypical Hypotonia-Cystinuria Syndrome

  • Atypical Hcs
Nephrolithiasis

  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi
Nephrocalcinosis

  • Hypercalcemic Nephropathy
Ureteral Disease

  • Ureteral Diseases

  • Ureteral Disorders

  • Disorder Of Ureter
Lysinuric Protein Intolerance

  • LPI

  • Dibasic Amino Aciduria Ii

  • Hyperdibasic Aminoaciduria

  • Dibasic Aminoaciduria 2

  • Dibasicamino Aciduria Ii

  • Congenital Lysinuria

  • Lpi - Lysinuric Protein Intolerance
Aminoaciduria
Myasthenic Syndrome, Congenital, 22

  • CMS22

  • Prepl Deficiency

  • Congenital Myasthenic Syndrome 22
Amino Acid Metabolic Disorder

  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders
Nephrolithiasis, Uric Acid

  • Nephrolithiasis, Uric Acid, Susceptibility To

  • Uric Acid Urolithiasis

  • Uric Acid Nephrolithiasis

  • UAN

  • Acute Urate Nephropathy

  • Urolithiasis, Uric Acid

  • Urolithiasis, Uric Acid, Susceptibility To

  • Uric Acid Renal Calculus
Hartnup Disorder

  • Hartnup Disease

  • HND

  • Neutral 1 Amino Acid Transport Defect

  • Neutral Amino Acid Transport Defect

  • Deficiency Of Tryptophan Oxygenase

  • Hartnup'S Disease

  • Aminoaciduria, Hartnup Type

  • Disorder Of Neutral Amino Acid Transport
Hypotonia
Giant Hemangioma
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13241 SLC3A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus SLC3A1 MGD MGI:1195264
Felis catus SLC3A1 VGNC VGNC:65365
Bos taurus SLC3A1 VGNC VGNC:34870
Canis familiaris SLC3A1 VGNC VGNC:46409
Rattus norvegicus SLC3A1 RGD RGD:3709
Macaca mulatta SLC3A1 VGNC VGNC:77462
Others SLC3A1 NCBI