SLC6A19
entrez
340024
canonical
uniprot
Q695T7
canonical
ensembl
ENSG00000174358
resolver
ensp
ENSP00000305302
resolver
enst
ENST00000304460
resolver
genesymbol
SLC6A19
resolver
genesymbol_syn
B0AT1
resolver
hgnc
HGNC:27960
resolver
uniprot
A8K446
resolver
uniprot_entry
S6A19_HUMAN
resolver
uniprot_sec
A8K446
resolver
amino_acid_sequence
MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQTGYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTYSIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY
uniprot
proteins
disease_involvement
DISEASE: Hartnup disorder (HND) [MIM:234500]: Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. {ECO:0000269|PubMed:15286787, ECO:0000269|PubMed:15286788, ECO:0000269|PubMed:18424768, ECO:0000269|PubMed:18484095, ECO:0000269|PubMed:19185582}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperglycinuria (HGLY) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269|PubMed:19033659}. Note=The disease may be caused by variants affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.; DISEASE: Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269|PubMed:19033659}. Note=The disease may be caused by variants affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
uniprot
proteins
function
FUNCTION: Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:15286788, PubMed:19185582). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:18424768, PubMed:19185582). {ECO:0000269|PubMed:15286787, ECO:0000269|PubMed:15286788, ECO:0000269|PubMed:18424768, ECO:0000269|PubMed:18484095, ECO:0000269|PubMed:19185582, ECO:0000269|PubMed:26240152}.
uniprot
proteins
mass_dalton
71110
uniprot
proteins
protein_family
SLC6A19 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15286787
uniprot
proteins
pubmed
15286788
uniprot
proteins
pubmed
18424768
uniprot
proteins
pubmed
18484095
uniprot
proteins
pubmed
19033659
uniprot
proteins
pubmed
19185582
uniprot
proteins
pubmed
26240152
uniprot
proteins
pubmed
32132184
uniprot
proteins
sequence_length
634
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19185582, ECO:0000269|PubMed:26240152}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:18424768}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with ACE2 on the apical membrane of cells lining villi of the jejunum, ileum and on kidney proximal tubules. {ECO:0000269|PubMed:18424768}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 121..141; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 193..213; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 222..242; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 269..289; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 414..434; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 457..477; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 491..511; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 532..552; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 582..602; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins