SLC29A1 (solute carrier family 29 member 1 (Augustine blood group))

2007-02-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
ENT1
FUSION GENES

Other Information

Locus ID:

NCBI: 2030
MIM: 602193
HGNC: 11003
Ensembl: ENSG00000112759

Variants:

dbSNP: 2030
ClinVar: 2030
TCGA: ENSG00000112759
COSMIC: SLC29A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112759ENST00000371708Q99808
ENSG00000112759ENST00000371713Q99808
ENSG00000112759ENST00000371724Q99808
ENSG00000112759ENST00000371731A0A2U3TZM6
ENSG00000112759ENST00000371740A0A2U3TZJ7
ENSG00000112759ENST00000371755Q99808
ENSG00000112759ENST00000393841A0A2U3TZM5
ENSG00000112759ENST00000393844Q99808
ENSG00000112759ENST00000642777A0A2R8YEH8
ENSG00000112759ENST00000643028A0A2R8Y6D1
ENSG00000112759ENST00000643869A0A2R8Y567
ENSG00000112759ENST00000645692A0A2R8Y801
ENSG00000112759ENST00000646251A0A2R8YFB9
ENSG00000112759ENST00000646582A0A2R8Y854
ENSG00000112759ENST00000647460A0A2R8YFI6
ENSG00000112759ENST00000651428Q99808
ENSG00000112759ENST00000652453Q99808
ENSG00000112759ENST00000652680Q99808

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Transport of nucleosides and free purine and pyrimidine bases across the plasma membraneREACTOMER-HSA-83936

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164749390peginterferon alfa-2aChemicalClinicalAnnotationassociatedPD20812847
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD20812847
PA166171170tipiracil hydrochlorideChemicalClinicalAnnotationassociatedPD28992563
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD24361227
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD20665488, 24361227
PA445218Pancreatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20665488
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD28992563
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD20812847
PA449748gemcitabineChemicalClinicalAnnotation, Literature, MultilinkAnnotation, PathwayassociatedPD20665488, 22705007, 24361227, 24475233, 25162786
PA450761paclitaxelChemicalClinicalAnnotationassociatedPD24361227
PA451241ribavirinChemicalClinicalAnnotationassociatedPD20812847
PA451775trifluridineChemicalClinicalAnnotationassociatedPD28992563

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
227050072012Levels of gemcitabine transport and metabolism proteins predict survival times of patients treated with gemcitabine for pancreatic adenocarcinoma.84
193184962009Human equilibrative nucleoside transporter 1 and human concentrative nucleoside transporter 3 predict survival after adjuvant gemcitabine therapy in resected pancreatic adenocarcinoma.62
163332462005The human equilibrative nucleoside transporter 1 mediates in vitro cytarabine sensitivity in childhood acute myeloid leukaemia.40
217956832011Nucleobase transport by human equilibrative nucleoside transporter 1 (hENT1).35
200287592010Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity.34
120065832002Functional and molecular characterization of nucleobase transport by recombinant human and rat equilibrative nucleoside transporters 1 and 2. Chimeric constructs reveal a role for the ENT2 helix 5-6 region in nucleobase translocation.32
120080782002Potential mechanisms of resistance to cytarabine in AML patients.32
206654882010Gemcitabine metabolic and transporter gene polymorphisms are associated with drug toxicity and efficacy in patients with locally advanced pancreatic cancer.27

Citation

Dessen P

SLC29A1 (solute carrier family 29 member 1 (Augustine blood group))

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46530/slc29a1-(solute-carrier-family-29-member-1-(augustine-blood-group))