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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 14581375, 15386342
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 22580602, 23722537
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25890497
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 27824142
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 36150388 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 16837820
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18053967
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19107936
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25600708 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia LHGDN 18604194
★☆☆☆☆
Found in Text Mining only