SLC3A1 - solute carrier family 3 member 1 Gene

Homo sapiens

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

Gene ID: 6519 | Gene type: protein coding

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

SLC3A1 Protein Structure

Alpha-amylase

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13241	SLC3A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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