Gene Gene information from NCBI Gene database.
Entrez ID 9154
Gene name Solute carrier family 28 member 1
Gene symbol SLC28A1
Synonyms (NCBI Gene)
CNT1HCNT1URCTU
Chromosome 15
Chromosome location 15q25.3
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs2242047 C>T Affects Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs45584739 T>C Affects Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs149246522 G>A Affects Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
178
miRTarBase ID miRNA Experiments Reference
MIRT030057 hsa-miR-26b-5p Microarray 19088304
MIRT633665 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT633664 hsa-miR-371b-5p HITS-CLIP 23824327
MIRT633663 hsa-miR-373-5p HITS-CLIP 23824327
MIRT633662 hsa-miR-616-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005337 Function Nucleoside transmembrane transporter activity IEA
GO:0005345 Function Purine nucleobase transmembrane transporter activity NAS 22492015
GO:0005415 Function Nucleoside:sodium symporter activity TAS
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606207 11001 ENSG00000156222
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00337
Protein name Sodium/nucleoside cotransporter 1 (Concentrative nucleoside transporter 1) (CNT 1) (hCNT1) (Na(+)/nucleoside cotransporter 1) (Sodium-coupled nucleoside transporter 1) (Solute carrier family 28 member 1)
Protein 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 su
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01773 Nucleos_tra2_N 183 256 Na+ dependent nucleoside transporter N-terminus Family
PF07670 Gate 263 382 Nucleoside recognition Domain
PF07662 Nucleos_tra2_C 366 590 Na+ dependent nucleoside transporter C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney. {ECO:0000269|PubMed:9124315}.
Sequence
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFS
RWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVL
TFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLV
SFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI
FLSYTKAGSSFVFGEA
LVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVT
MGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISF
GIDAT
SLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAI
SVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE
DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCG
FANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGIL
YMPRGAEVDC
MSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ
Sequence length 649
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
37
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs17222414 RCV005933176
High myopia Uncertain significance rs139484056 RCV000785690
SLC28A1-related disorder Likely benign; Benign; Affects rs116707209, rs2290272, rs8187758, rs2242046, rs112431612, rs3825875, rs17215975, rs17222379, rs145516173, rs147728564, rs17222302, rs17222414, rs17222295, rs45523532, rs8187779
View all (13 more)
RCV003929061
RCV003974663
RCV003979616
RCV003979792
RCV003964452
RCV003977363
RCV003933814
RCV003964049
RCV003914578
RCV003914595
RCV003924525
RCV003937001
RCV003937148
RCV003932153
RCV003936802
RCV003956830
RCV003979137
RCV003981904
RCV003982104
RCV003982165
RCV003982197
RCV003962018
RCV003976622
RCV003972203
RCV003938158
RCV003965581
RCV003978307
RCV003978365
Uridine-cytidineuria Uncertain significance; Benign; Affects rs2505378257, rs45584739, rs2242047, rs149246522 RCV003991858
RCV000785742
RCV000785743
RCV000785744
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 36150388
Carcinoma Renal Cell Associate 25600708
Colorectal Neoplasms Associate 34647142
Dykes Markes Harper syndrome Associate 30658162
Fever Associate 30658162
Hemophagocytic lymphohistiocytosis familial 2 Associate 30658162
Hereditary Sensory and Autonomic Neuropathies Associate 30273369
HIV Infections Associate 25069476
Immunologic Deficiency Syndromes Inhibit 30658162
Immunologic Deficiency Syndromes Associate 30658162