SLC7A7
entrez
9056
canonical
uniprot
Q9UM01
canonical
ensembl
ENSG00000155465
resolver
ensp
ENSP00000285850
resolver
ensp
ENSP00000380662
resolver
ensp
ENSP00000380663
resolver
ensp
ENSP00000380666
resolver
ensp
ENSP00000451881
resolver
ensp
ENSP00000452551
resolver
ensp
ENSP00000501493
resolver
ensp
ENSP00000564446
resolver
ensp
ENSP00000611751
resolver
enst
ENST00000285850
resolver
enst
ENST00000397528
resolver
enst
ENST00000397529
resolver
enst
ENST00000397532
resolver
enst
ENST00000555702
resolver
enst
ENST00000555911
resolver
enst
ENST00000674313
resolver
enst
ENST00000894387
resolver
enst
ENST00000941692
resolver
genesymbol
SLC7A7
resolver
hgnc
HGNC:11065
resolver
uniprot
A0A0S2Z502
resolver
uniprot
B2RAU0
resolver
uniprot
D3DS26
resolver
uniprot
O95984
resolver
uniprot
Q53XC1
resolver
uniprot
Q86U07
resolver
uniprot
Q9P2V5
resolver
uniprot_entry
A0A0S2Z502_HUMAN
resolver
uniprot_entry
YLAT1_HUMAN
resolver
uniprot_sec
B2RAU0
resolver
uniprot_sec
D3DS26
resolver
uniprot_sec
O95984
resolver
uniprot_sec
Q53XC1
resolver
uniprot_sec
Q86U07
resolver
uniprot_sec
Q9P2V5
resolver
amino_acid_sequence
MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRLWTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFFPIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN
uniprot
proteins
disease_involvement
DISEASE: Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO:0000269|PubMed:10080182, ECO:0000269|PubMed:10631139, ECO:0000269|PubMed:10655553, ECO:0000269|PubMed:12402335, ECO:0000269|PubMed:15756301, ECO:0000269|PubMed:15776427, ECO:0000269|PubMed:17764084, ECO:0000269|PubMed:23940088, ECO:0000269|PubMed:9829974}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesis via the transport of L-arginine (PubMed:10080182, PubMed:10655553, PubMed:14603368, PubMed:15756301, PubMed:15776427, PubMed:17329401, PubMed:9829974, PubMed:9878049). Also mediates arginine transport in non-polarized cells, such as monocytes, and is essential for the correct function of these cells (PubMed:15280038, PubMed:31705628). The transport mechanism is electroneutral and operates with a stoichiometry of 1:1 (By similarity). In vitro, Na(+) and Li(+), but also H(+), are cotransported with the neutral amino acids (By similarity). {ECO:0000250|UniProtKB:Q9R0S5, ECO:0000269|PubMed:10080182, ECO:0000269|PubMed:10655553, ECO:0000269|PubMed:14603368, ECO:0000269|PubMed:15280038, ECO:0000269|PubMed:15756301, ECO:0000269|PubMed:15776427, ECO:0000269|PubMed:17329401, ECO:0000269|PubMed:31705628, ECO:0000269|PubMed:9829974, ECO:0000269|PubMed:9878049}.
uniprot
proteins
mass_dalton
55991
uniprot
proteins
protein_family
Amino acid-polyamine-organocation (APC) superfamily
uniprot
proteins
protein_family
L-type amino acid transporter (LAT) (TC 2.A.3.8) family
uniprot
proteins
pubmed
10080182
uniprot
proteins
pubmed
10080183
uniprot
proteins
pubmed
10631139
uniprot
proteins
pubmed
10655553
uniprot
proteins
pubmed
10737982
uniprot
proteins
pubmed
11078698
uniprot
proteins
pubmed
11742806
uniprot
proteins
pubmed
12402335
uniprot
proteins
pubmed
14603368
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15280038
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15756301
uniprot
proteins
pubmed
15776427
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17197568
uniprot
proteins
pubmed
17329401
uniprot
proteins
pubmed
17764084
uniprot
proteins
pubmed
23940088
uniprot
proteins
pubmed
31705628
uniprot
proteins
pubmed
9829974
uniprot
proteins
pubmed
9878049
uniprot
proteins
sequence_length
511
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:15756301}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 69..89; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 107..127; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 133..153; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 160..180; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 186..206; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 259..279; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 304..324; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 383..403; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 416..436; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 441..461; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins