SLC28A1 (solute carrier family 28 member 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9154
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 28 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC28A1
Synonyms (NCBI Gene) Gene synonyms aliases
CNT1, HCNT1, URCTU
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606207 11001 ENSG00000156222
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVT
MGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISF
GIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAI
SVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE
DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCG
FANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDC
MSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ
Sequence length 649
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebral amyloid angiopathy Cerebral amyloid angiopathy N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease 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