Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2030
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 29 member 1 (Augustine blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC29A1
Synonyms (NCBI Gene) Gene synonyms aliases
AUG, ENT1, hENT1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. T
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1131690802 A>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022638 hsa-miR-124-3p Microarray 18668037
MIRT023775 hsa-miR-1-3p Proteomics 18668040
MIRT031668 hsa-miR-16-5p Proteomics 18668040
MIRT317935 hsa-miR-548an PAR-CLIP 20371350
MIRT317934 hsa-miR-3714 PAR-CLIP 20371350
Transcription factors
Transcription factor Regulation Reference
HIF1A Repression 19853583
SP1 Repression 18064606
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake ISS
GO:0005326 Function Neurotransmitter transmembrane transporter activity IDA 9396714
GO:0005326 Function Neurotransmitter transmembrane transporter activity ISS
GO:0005337 Function Nucleoside transmembrane transporter activity IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602193 11003 ENSG00000112759
Protein
UniProt ID Q99808
Protein name Equilibrative nucleoside transporter 1 (hENT1) (Equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter) (Equilibrative NBMPR-sensitive nucleoside transporter) (es nucleoside transporter) (Nucleoside transporter, es-type) (Solute
Protein function Uniporter involved in the facilitative transport of nucleosides and nucleobases, and contributes to maintaining their cellular homeostasis (PubMed:10722669, PubMed:10755314, PubMed:12527552, PubMed:14759222, PubMed:15037197, PubMed:17379602, Pub
PDB 6OB6 , 6OB7 , 8TZI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01733 Nucleoside_tran 144 454 Nucleoside transporter Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis at the blood-testis barrier (at protein level) (PubMed:23639800). Detected in erythrocytes (at protein level) (PubMed:11584005, PubMed:23219802). Expressed at relatively high levels in cerebral cortex, particularly
Sequence
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alcoholism   Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Erythroblastosis fetalis Erythroblastosis, Fetal rs1131690802
Pancreatic cancer Malignant neoplasm of pancreas rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431 18728667
Unknown
Disease term Disease name Evidence References Source
Huntington disease Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease 27567601 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 29851527
Adenocarcinoma Associate 22569992
Asthma Associate 32277847
Biliary Tract Diseases Associate 22760605
Biliary Tract Neoplasms Associate 30557411
Brain Diseases Associate 34008992
Breast Neoplasms Associate 34438242
Calcinosis Cutis Associate 28218790
Carcinoma Hepatocellular Associate 32513905, 32671914
Carcinoma Non Small Cell Lung Associate 22173087