SLC3A1
entrez
6519
canonical
uniprot
Q07837
canonical
ensembl
ENSG00000138079
resolver
ensp
ENSP00000260649
resolver
ensp
ENSP00000387308
resolver
enst
ENST00000409387
resolver
genesymbol
SLC3A1
resolver
genesymbol_syn
NBAT
resolver
hgnc
HGNC:11025
resolver
uniprot
A0A0S2Z4E1
resolver
uniprot
A8K0S1
resolver
uniprot
B8ZZK1
resolver
uniprot
O00658
resolver
uniprot
Q15295
resolver
uniprot
Q4J6B4
resolver
uniprot
Q4J6B5
resolver
uniprot
Q4J6B6
resolver
uniprot
Q4J6B7
resolver
uniprot
Q4J6B8
resolver
uniprot
Q4J6B9
resolver
uniprot
Q52M92
resolver
uniprot
Q52M94
resolver
uniprot_entry
A0A0S2Z4E1_HUMAN
resolver
uniprot_entry
B8ZZK1_HUMAN
resolver
uniprot_entry
SLC31_HUMAN
resolver
uniprot_sec
A8K0S1
resolver
uniprot_sec
O00658
resolver
uniprot_sec
Q15295
resolver
uniprot_sec
Q4J6B4
resolver
uniprot_sec
Q4J6B5
resolver
uniprot_sec
Q4J6B6
resolver
uniprot_sec
Q4J6B7
resolver
uniprot_sec
Q4J6B8
resolver
uniprot_sec
Q4J6B9
resolver
uniprot_sec
Q52M92
resolver
uniprot_sec
Q52M94
resolver
amino_acid_sequence
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10738006, ECO:0000269|PubMed:11748844, ECO:0000269|PubMed:12234283, ECO:0000269|PubMed:15635077, ECO:0000269|PubMed:16138908, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:19782624, ECO:0000269|PubMed:32494597, ECO:0000269|PubMed:7539209, ECO:0000269|PubMed:7573036, ECO:0000269|PubMed:7575432, ECO:0000269|PubMed:8054986, ECO:0000269|PubMed:9186880}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16385448, ECO:0000269|PubMed:21686663}. Note=The disease is caused by variants affecting the gene represented in this entry. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and PREPL (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate intellectual disability and respiratory chain complex IV deficiency (PubMed:21686663). {ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:21686663}.
uniprot
proteins
function
FUNCTION: Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane (By similarity) (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A9 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1. SLC7A9-SLC3A1 transporter has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids. Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine. SLC7A9-SLC3A1 acts as a major transporter for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in early proximal tubules (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A13 to form a functional complex that transports anionic and neutral amino acids via exchange or facilitated diffusion. SLC7A13-SLC3A1 may act as a major transporter for L-cystine in late proximal tubules, ensuring its reabsorption from the luminal fluid in exchange for cytosolic L-glutamate or L-aspartate (By similarity). {ECO:0000250|UniProtKB:Q91WV7, ECO:0000269|PubMed:10588648, ECO:0000269|PubMed:11318953, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:16825196, ECO:0000269|PubMed:32494597, ECO:0000269|PubMed:32817565, ECO:0000269|PubMed:7686906, ECO:0000269|PubMed:8486766, ECO:0000269|PubMed:8663184, ECO:0000269|PubMed:8663357}.
uniprot
proteins
mass_dalton
78852
uniprot
proteins
pubmed
10588648
uniprot
proteins
pubmed
10738006
uniprot
proteins
pubmed
11318953
uniprot
proteins
pubmed
11748844
uniprot
proteins
pubmed
12167606
uniprot
proteins
pubmed
12234283
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15635077
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15913950
uniprot
proteins
pubmed
16138908
uniprot
proteins
pubmed
16385448
uniprot
proteins
pubmed
16609684
uniprot
proteins
pubmed
16825196
uniprot
proteins
pubmed
19782624
uniprot
proteins
pubmed
21686663
uniprot
proteins
pubmed
32494597
uniprot
proteins
pubmed
32817565
uniprot
proteins
pubmed
7539209
uniprot
proteins
pubmed
7568194
uniprot
proteins
pubmed
7573036
uniprot
proteins
pubmed
7575432
uniprot
proteins
pubmed
7686906
uniprot
proteins
pubmed
8054986
uniprot
proteins
pubmed
8486766
uniprot
proteins
pubmed
8663184
uniprot
proteins
pubmed
8663357
uniprot
proteins
pubmed
9186880
uniprot
proteins
sequence_length
685
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12167606, ECO:0000269|PubMed:32817565}; Single-pass type II membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:Q91WV7}; Single-pass type II membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 88..108; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins