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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
L-cystine transport	IEA
sucrose catabolic process
carbohydrate metabolic process	IEA
maltose catabolic process
aspartate transmembrane transport	IEA

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic 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

oligosaccharide metabolic process [inference]

disaccharide metabolic process [inference]

maltose metabolic process [inference]

maltose catabolic process

sucrose metabolic process [inference]

sucrose catabolic process

disaccharide catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

organic substance metabolic process [inference]

carbohydrate metabolic process

oligosaccharide metabolic process [inference]

disaccharide metabolic process [inference]

maltose metabolic process [inference]

maltose catabolic process

sucrose metabolic process [inference]

sucrose catabolic process

disaccharide catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

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
plasma membrane	TAS
vacuolar membrane	IEA
brush border membrane	IDA	12167606
membrane	TAS	8054986
apical plasma membrane	IEA

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
sucrose alpha-glucosidase activity
alpha-amylase activity
L-cystine transmembrane transporter activity	TAS	8054986
maltose alpha-glucosidase activity
glucan 1,4-alpha-maltotriohydrolase activity

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

beta-fructofuranosidase activity [inference]

sucrose alpha-glucosidase activity

glucosidase activity [inference]

alpha-glucosidase activity [inference]

alpha-1,4-glucosidase activity [inference]

maltose alpha-glucosidase activity

amylase activity [inference]

alpha-amylase activity

glucan 1,4-alpha-maltotriohydrolase activity

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.

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

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DO ID	Disease Name	Source
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0060858	hypotonia-cystinuria syndrome	DisGeNET
DOID:0080587	congenital myasthenic syndrome 22	DisGeNET
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	DisGeNET
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	DisGeNET
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A	DisGeNET
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	DisGeNET DisGeNET
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C	DisGeNET
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	DisGeNET

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
OMIM:220100	cystinuria
ORPHA:163690	hypotonia-cystinuria syndrome
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
Caenorhabditis elegans	175125	WB:WBGene00000225
Caenorhabditis elegans	178504	WB:WBGene00000224
Drosophila melanogaster	34597	FB:FBgn0032381
Drosophila melanogaster	34598	FB:FBgn0032382
Drosophila melanogaster	35824	FB:FBgn0002570
Drosophila melanogaster	35825	FB:FBgn0002569
Drosophila melanogaster	35826	FB:FBgn0002571
Drosophila melanogaster	35827	FB:FBgn0033294
Drosophila melanogaster	35828	FB:FBgn0050359
Drosophila melanogaster	35829	FB:FBgn0033296

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements