Gene Gene information from NCBI Gene database.
Entrez ID 2030
Gene name Solute carrier family 29 member 1 (Augustine blood group)
Gene symbol SLC29A1
Synonyms (NCBI Gene)
AUGENT1hENT1
Chromosome 6
Chromosome location 6p21.1
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs1131690802 A>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
424
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HIF1A Repression 19853583
SP1 Repression 18064606
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake IEA
GO:0001504 Process Neurotransmitter uptake ISS
GO:0005326 Function Neurotransmitter transmembrane transporter activity IDA 9396714
GO:0005326 Function Neurotransmitter transmembrane transporter activity IEA
GO:0005326 Function Neurotransmitter transmembrane transporter activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602193 11003 ENSG00000112759
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hemolytic disease of fetus OR newborn due to isoimmunization Pathogenic rs1131690802 RCV000492821
★★★★☆
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
ERYTHROBLASTOSIS, FETAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC29A1-related disorder Likely 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 of pancreas Pancreatic adenocarcinoma BEFREE 15501974, 17390066
★☆☆☆☆
Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant Of Huntington Disease CTD_human_DG 27567601
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 21346688, 25583751, 26750805
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29901627, 31652721
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 31551431
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 32277847 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 30557411 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34008992 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34438242 Associate
★☆☆☆☆
Found in Text Mining only
Bronchospasm Bronchospasm BEFREE 28041785
★☆☆☆☆
Found in Text Mining only