InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC3A1

Summary

InnateDB Protein

IDBP-49720.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC3A1

Protein Name

solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1

Synonyms

ATR1; CSNU1; D2H; NBAT; RBAT;

Species

Homo sapiens

Ensembl Protein

ENSP00000260649

InnateDB Gene

IDBG-49716 (SLC3A1)

Protein Structure

UniProt Annotation

Function

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. {ECO:0000269PubMed:11318953, ECO:0000269PubMed:7686906, ECO:0000269PubMed:8486766, ECO:0000269PubMed:8663184}.

Subcellular Localization

Membrane {ECO:0000269PubMed:12167606}; Single-pass type II membrane protein {ECO:0000269PubMed:12167606}.

Disease Associations

Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269PubMed:10738006, ECO:0000269PubMed:11748844, ECO:0000269PubMed:12234283, ECO:0000269PubMed:7539209, ECO:0000269PubMed:7573036, ECO:0000269PubMed:7575432, ECO:0000269PubMed:8054986, ECO:0000269PubMed:9186880}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO:0000269PubMed:16385448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. {ECO:0000269PubMed:12167606, ECO:0000269PubMed:7686906, ECO:0000269PubMed:8486766}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0005515	protein binding
GO:0015171	amino acid transmembrane transporter activity
GO:0015174	basic amino acid transmembrane transporter activity
GO:0015184	L-cystine transmembrane transporter activity
GO:0043169	cation binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0003333	amino acid transmembrane transport
GO:0005975	carbohydrate metabolic process
GO:0006520	cellular amino acid metabolic process
GO:0006811	ion transport
GO:0006865	amino acid transport
GO:0015802	basic amino acid transport
GO:0015811	L-cystine transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005743	mitochondrial inner membrane
GO:0005774	vacuolar membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0031526	brush border membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR006047 Glycosyl hydrolase, family 13, catalytic domain
IPR006589 Glycosyl hydrolase, family 13, subfamily, catalytic domain
IPR017853 Glycoside hydrolase, superfamily

PFAM

PF00128

PRINTS

PIRSF

SMART

SM00642

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q07837