SLC6A20
entrez
54716
canonical
uniprot
Q9NP91
canonical
ensembl
ENSG00000163817
resolver
ensp
ENSP00000296133
resolver
ensp
ENSP00000346298
resolver
ensp
ENSP00000515266
resolver
ensp
ENSP00000674918
resolver
enst
ENST00000703343
resolver
genesymbol
SLC6A20
resolver
genesymbol_syn
SIT1
resolver
genesymbol_syn
XT3
resolver
genesymbol_syn
XTRP3
resolver
hgnc
HGNC:30927
resolver
uniprot
A0A8V8TQV4
resolver
uniprot
A1A4F2
resolver
uniprot
B7ZLW4
resolver
uniprot
O75590
resolver
uniprot
Q8TF10
resolver
uniprot
Q9NPQ2
resolver
uniprot
Q9NQ77
resolver
uniprot_entry
A0A8V8TQV4_HUMAN
resolver
uniprot_entry
B7ZLW4_HUMAN
resolver
uniprot_entry
S6A20_HUMAN
resolver
uniprot_sec
A1A4F2
resolver
uniprot_sec
O75590
resolver
uniprot_sec
Q8TF10
resolver
uniprot_sec
Q9NPQ2
resolver
uniprot_sec
Q9NQ77
resolver
amino_acid_sequence
MEKARPLWANSLQFVFACISYAVGLGNVWRFPYLCQMYGGGSFLVPYIIMLIVEGMPLLYLELAVGQRMRQGSIGAWRTISPYLSGVGVASVVVSFFLSMYYNVINAWAFWYLFHSFQDPLPWSVCPLNGNHTGYDEECEKASSTQYFWYRKTLNISPSLQENGGVQWEPALCLLLAWLVVYLCILRGTESTGKVVYFTASLPYCVLIIYLIRGLTLHGATNGLMYMFTPKIEQLANPKAWINAATQIFFSLGLGFGSLIAFASYNEPSNNCQKHAIIVSLINSFTSIFASIVTFSIYGFKATFNYENCLKKVSLLLTNTFDLEDGFLTASNLEQVKGYLASAYPSKYSEMFPQIKNCSLESELDTAVQGTGLAFIVYTEAIKNMEVSQLWSVLYFFMLLMLGIGSMLGNTAAILTPLTDSKIISSHLPKEAISGLVCLVNCAIGMVFTMEAGNYWFDIFNDYAATLSLLLIVLVETIAVCYVYGLRRFESDLKAMTGRAVSWYWKVMWAGVSPLLIVSLFVFYLSDYILTGTLKYQAWDASQGQLVTKDYPAYALAVIGLLVASSTMCIPLAALGTFVQRRLKRGDADPVA
uniprot
proteins
disease_involvement
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 is caused by variants affecting the gene represented in this entry.; 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 is caused by variants affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
uniprot
proteins
function
FUNCTION: Mediates the Na(+)- and Cl(-)-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids (PubMed:15632147, PubMed:19033659, PubMed:33428810). Also transports glycine, regulates proline and glycine homeostasis in the brain playing a role in the modulation of NMDAR currents (PubMed:33428810). {ECO:0000269|PubMed:15632147, ECO:0000269|PubMed:19033659, ECO:0000269|PubMed:33428810}.
uniprot
proteins
mass_dalton
65914
uniprot
proteins
protein_family
SLC6A20 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
11352561
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15632147
uniprot
proteins
pubmed
19033659
uniprot
proteins
pubmed
33428810
uniprot
proteins
pubmed
9932288
uniprot
proteins
sequence_length
592
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q8VDB9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8VDB9}. Note=Located in the apical brush border membrane of kidney proximal tubule cells and in the apical membrane of enterocytes lining the intestinal villi. {ECO:0000250|UniProtKB:Q8VDB9}.
uniprot
proteins
transmembrane_region
TRANSMEM 6..26; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 43..63; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 166..186; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 195..215; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 242..262; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 277..297; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 390..410; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 432..452; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 466..486; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 505..525; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 555..575; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins