InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SLC7A9

Summary

InnateDB Gene

IDBG-42294.6

Last Modified

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

Gene Symbol

SLC7A9

Gene Name

solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9

Synonyms

BAT1; CSNU3

Species

Homo sapiens

Ensembl Gene

ENSG00000021488

Encoded Proteins

IDBP-42296

solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9

IDBP-761306

IDBP-760177

IDBP-765529

IDBP-762926

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:32830509-32869766

Strand

Reverse strand

Band

q13.11

Transcripts

ENST00000023064	ENSP00000023064
ENST00000590341	ENSP00000464822
ENST00000590465	ENSP00000468076
ENST00000587772	ENSP00000468439
ENST00000592232	ENSP00000465563
ENST00000589659

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	4 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015171	amino acid transmembrane transporter activity
GO:0015175	neutral amino acid transmembrane transporter activity
GO:0015184	L-cystine transmembrane transporter activity
GO:0042605	peptide antigen binding

Biological Process

GO:0003333	amino acid transmembrane transport
GO:0006461	protein complex assembly
GO:0006520	cellular amino acid metabolic process
GO:0006810	transport
GO:0006811	ion transport
GO:0006865	amino acid transport
GO:0007596	blood coagulation
GO:0015804	neutral amino acid transport
GO:0015811	L-cystine transport
GO:0050900	leukocyte migration
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0031526	brush border membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030492

View Gene Order

ENSBTAG00000013338

Not yet available

Pathways

NETPATH

REACTOME

REACT_12560

Basigin interactions pathway

REACT_12051

Cell surface interactions at the vascular wall pathway

REACT_13796

Amino acid transport across the plasma membrane pathway

REACT_19397

Transport of inorganic cations/anions and amino acids/oligopeptides pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_19118

SLC-mediated transmembrane transport pathway

REACT_604

Hemostasis pathway

KEGG

hsa04974

Protein digestion and absorption pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.743345

RefSeq

NM_001126335 NM_001243036 NM_014270 XM_005258468

HUGO

OMIM

CCDS

CCDS12425

HPRD

04997

IMGT

EMBL

GenPept

RNA Seq Atlas