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solute carrier family 3 member 1

Summary

Gene Symbol

SLC3A1

Aliases

ATR1
CSNU1
D2H
NBAT
RBAT
amino acid transporter 1
neutral and basic amino acid transport protein rBAT

Organism

Homo sapiens (human)

External Links

NCBI Gene

6519

HGNC

11025

KEGG Gene ID

hsa:6519

PubChem

6519

Alliance of Genome Resources

HGNC:11025

Annotation

Keyword

3D-structure
Alternative splicing
Amino-acid transport
Cell membrane
Cystinuria
Disease variant
Disulfide bond
Glycoprotein
Phosphoprotein
Proteomics identification
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
B8ZZK1
A0A0S2Z4E1
Q07837	D2h Neutral and basic amino acid transport protein Solute carrier family 3 member 1 b(0,+)-type amino acid transporter-related heavy chain

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
carbohydrate metabolic process	IEA
amino acid transport	IBA
gene expression	IEA
basic amino acid transport	TAS	8054986
aspartate transmembrane transport	IEA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

primary metabolic process [inference]

carbohydrate metabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

transmembrane transport [inference]

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

localization [inference]

establishment of localization [inference]

transport [inference]

transmembrane transport [inference]

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

organic substance transport [inference]

organic anion transport [inference]

carboxylic acid transport [inference]

dicarboxylic acid transport [inference]

C4-dicarboxylate transport [inference]

aspartate transmembrane transport

L-glutamate import [inference]

L-glutamate transmembrane transport

amino acid transport

sulfur amino acid transport [inference]

L-cystine transport

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

basic amino acid transport

basic amino acid transmembrane transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

organic acid transport [inference]

carboxylic acid transport [inference]

dicarboxylic acid transport [inference]

C4-dicarboxylate transport [inference]

aspartate transmembrane transport

L-glutamate import [inference]

L-glutamate transmembrane transport

amino acid transport

sulfur amino acid transport [inference]

L-cystine transport

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

basic amino acid transport

basic amino acid transmembrane transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

organic acid transmembrane transport [inference]

carboxylic acid transmembrane transport [inference]

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

modified amino acid transport [inference]

L-cystine transport

nitrogen compound transport [inference]

amino acid transport

sulfur amino acid transport [inference]

L-cystine transport

amino acid transmembrane transport [inference]

aspartate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

basic amino acid transmembrane transport

acidic amino acid transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

basic amino acid transport

basic amino acid transmembrane transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

L-glutamate import [inference]

L-glutamate transmembrane transport

L-alpha-amino acid transmembrane transport [inference]

L-glutamate transmembrane transport

amide transport [inference]

L-glutamate import [inference]

L-glutamate transmembrane transport

modified amino acid transport [inference]

L-cystine transport

sulfur compound transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
vacuolar membrane	IEA
plasma membrane	TAS
membrane	TAS	8054986
apical plasma membrane	IEA
brush border membrane	IDA	12167606

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane

plasma membrane region [inference]

apical plasma membrane

cell projection membrane [inference]

brush border membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

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GO Term	Evidence Code	PMID
protein binding	IPI	12167606 32494597
amino acid transmembrane transporter activity	TAS	10799513
basic amino acid transmembrane transporter activity	TAS	8054986
L-cystine transmembrane transporter activity	TAS	8054986
protein-containing complex binding	IEA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

organic acid transmembrane transporter activity [inference]

carboxylic acid transmembrane transporter activity [inference]

amino acid transmembrane transporter activity

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

basic amino acid transmembrane transporter activity

L-amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

organic anion transmembrane transporter activity [inference]

carboxylic acid transmembrane transporter activity [inference]

amino acid transmembrane transporter activity

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

basic amino acid transmembrane transporter activity

L-amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

modified amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

sulfur compound transmembrane transporter activity [inference]

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

binding [inference]

protein binding

protein dimerization activity [inference]

protein heterodimerization activity

protein-containing complex binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

maltase

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 4** entries
InterPro
Glycoside hydrolase superfamily
Glycosyl hydrolase, all-beta
Glycosyl hydrolase, family 13, catalytic domain
Oligo-1,6-glucosidase, domain 2

Human Protein Atlas

ENSG00000138079

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K14210

Name

solute carrier family 3 (neutral and basic amino acid transporter), member 1

References

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:9266	cystinuria	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000135	Hypogonadism
HP:0000268	Dolichocephaly
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000368	Low-set, posteriorly rotated ears
HP:0000508	Ptosis

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:163690	hypotonia-cystinuria syndrome
OMIM:220100	cystinuria
ORPHA:163693	2p21 microdeletion syndrome

PubChem Disease

GHR Health Conditions

Cystinuria

MedGen Diseases

Cystinuria

OMIM Phenotypes

CYSTINURIA

KEGG Diseases

Cystinuria

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	6519	Xenbase:XB-GENE-999160
Mus musculus	20532	Xenbase:XB-GENE-999160	MOUSE22401
Rattus norvegicus	29484	Xenbase:XB-GENE-999160	RATNO35173
Xenopus tropicalis	35824	Xenbase:XB-GENE-999160
Xenopus tropicalis	35825	Xenbase:XB-GENE-999160
Xenopus tropicalis	35826	Xenbase:XB-GENE-999160
Caenorhabditis elegans	50567	WB:WBGene00000225
Xenopus tropicalis	175125	Xenbase:XB-GENE-999160
Xenopus tropicalis	178504	Xenbase:XB-GENE-999160
Canis lupus familiaris	403700		CANLF01801

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements