SLC28A1
entrez
9154
canonical
uniprot
O00337
canonical
ensembl
ENSG00000156222
resolver
ensp
ENSP00000286749
resolver
ensp
ENSP00000341629
resolver
ensp
ENSP00000378074
resolver
ensp
ENSP00000443752
resolver
ensp
ENSP00000529250
resolver
ensp
ENSP00000529251
resolver
ensp
ENSP00000529254
resolver
ensp
ENSP00000787613
resolver
ensp
ENSP00000787615
resolver
enst
ENST00000538177
resolver
enst
ENST00000859191
resolver
enst
ENST00000859192
resolver
enst
ENST00000859195
resolver
genesymbol
SLC28A1
resolver
genesymbol_syn
CNT1
resolver
hgnc
HGNC:11001
resolver
uniprot
A0ACI8PG17
resolver
uniprot
A0AV42
resolver
uniprot
A8K7I2
resolver
uniprot
B7Z3L5
resolver
uniprot
B7Z3L6
resolver
uniprot
B7Z533
resolver
uniprot
O00335
resolver
uniprot
O00336
resolver
uniprot
Q5U5S6
resolver
uniprot
Q5U648
resolver
uniprot
Q9UEZ9
resolver
uniprot_entry
A0ACI8PG17_HUMAN
resolver
uniprot_entry
B7Z3L5_HUMAN
resolver
uniprot_entry
B7Z3L6_HUMAN
resolver
uniprot_entry
B7Z533_HUMAN
resolver
uniprot_entry
S28A1_HUMAN
resolver
uniprot_sec
A0AV42
resolver
uniprot_sec
A8K7I2
resolver
uniprot_sec
O00335
resolver
uniprot_sec
O00336
resolver
uniprot_sec
Q5U5S6
resolver
uniprot_sec
Q5U648
resolver
uniprot_sec
Q9UEZ9
resolver
activity_regulation
ACTIVITY REGULATION: Due to its high apparent affinity but slow transport, adenosine could act as a negative regulator of pyrimidine transport under some conditions. {ECO:0000269|PubMed:14701834, ECO:0000269|PubMed:32126230}.
uniprot
proteins
amino_acid_sequence
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWEDCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ
uniprot
proteins
disease_involvement
DISEASE: Uridine-cytidineuria (URCTU) [MIM:618477]: An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations. {ECO:0000269|PubMed:21998139, ECO:0000269|PubMed:30658162, ECO:0000269|PubMed:30847922}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical substrate transported with high apparent affinity, but low maximum velocity. Therefore, exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (PubMed:10455109, PubMed:14701834, PubMed:15194733, PubMed:21795683, PubMed:21998139, PubMed:30658162, PubMed:32126230, PubMed:9124315). Involved in renal nucleoside (re)absorption (PubMed:30658162). {ECO:0000269|PubMed:10455109, ECO:0000269|PubMed:14701834, ECO:0000269|PubMed:15194733, ECO:0000269|PubMed:21795683, ECO:0000269|PubMed:21998139, ECO:0000269|PubMed:30658162, ECO:0000269|PubMed:32126230, ECO:0000269|PubMed:9124315}.
uniprot
proteins
mass_dalton
71584
uniprot
proteins
mutagenesis
MUTAGEN 318; /note="S->G: Changed pyrimidine- and adenosine-specific:sodium symporter activity. Decreased specificity for pyrimidine nucleosides enabling also the transport of inosine. Loss of specificity for pyrimidine nucleosides; when associated with M-319 and T-352."; /evidence="ECO:0000269|PubMed:10455109"; MUTAGEN 319; /note="Q->M: Changed pyrimidine- and adenosine-specific:sodium symporter activity. Loss of specificity for pyrimidine nucleosides; when associated with G-318 and T-352."; /evidence="ECO:0000269|PubMed:10455109"; MUTAGEN 352; /note="S->T: Changed pyrimidine- and adenosine-specific:sodium symporter activity. Loss of specificity for pyrimidine nucleosides; when associated with G-318 and M-319."; /evidence="ECO:0000269|PubMed:10455109"; MUTAGEN 546; /note="S->A,C,R,T: No effect on localization to the apical plasma membrane. Loss of pyrimidine- and adenosine-specific:sodium symporter activity. Probably due to sodium uncoupling in the nucleoside translocation cycle."; /evidence="ECO:0000269|PubMed:21998139"; MUTAGEN 546; /note="Missing: Loss of pyrimidine- and adenosine-specific:sodium symporter activity."; /evidence="ECO:0000269|PubMed:21998139
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. N-glycosylation is required for localization to the plasma membrane and the transporter activity. {ECO:0000269|PubMed:30658162}.
uniprot
proteins
protein_family
Concentrative nucleoside transporter (CNT) (TC 2.A.41) family
uniprot
proteins
pubmed
10455109
uniprot
proteins
pubmed
14701834
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15194733
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
21795683
uniprot
proteins
pubmed
21998139
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30658162
uniprot
proteins
pubmed
30847922
uniprot
proteins
pubmed
32126230
uniprot
proteins
pubmed
9124315
uniprot
proteins
sequence_length
649
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21998139}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q62674}. Apical cell membrane {ECO:0000269|PubMed:21998139}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q62674}.
uniprot
proteins
transmembrane_region
TRANSMEM 81..104; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..128; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 148..167; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 179..195; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 262..283; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 295..318; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 338..360; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 367..386; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 424..446; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 458..479; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 535..558; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 570..592; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins