Human Gene SLC29A1 (ENST00000371755.9_7) from GENCODE V47lift37
  Description: solute carrier family 29 member 1 (Augustine blood group), transcript variant 7 (from RefSeq NM_001372327.1)
Gencode Transcript: ENST00000371755.9_7
Gencode Gene: ENSG00000112759.19_12
Transcript (Including UTRs)
   Position: hg19 chr6:44,191,332-44,201,879 Size: 10,548 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr6:44,195,051-44,201,265 Size: 6,215 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:44,191,332-44,201,879)mRNA (may differ from genome)Protein (456 aa)
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-  Comments and Description Text from UniProtKB
  ID: S29A1_HUMAN
DESCRIPTION: RecName: Full=Equilibrative nucleoside transporter 1; AltName: Full=Equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter; Short=Equilibrative NBMPR-sensitive nucleoside transporter; AltName: Full=Nucleoside transporter, es-type; AltName: Full=Solute carrier family 29 member 1;
FUNCTION: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.62 mM for adenosine; Note=Vmax for adenosine uptake is about the same for SLC29A1 and SLC29A2;
INTERACTION: P49842:STK19; NbExp=1; IntAct=EBI-347907, EBI-347581;
SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Note=Predominantly localized in the basolateral membrane in polarized MDCK cells.
TISSUE SPECIFICITY: Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen.
PTM: Glycosylated.
SIMILARITY: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC29A1
Diseases sorted by gene-association score: pancreas adenocarcinoma (17), periampullary adenocarcinoma (13), gestational diabetes (9), pancreatic ductal adenocarcinoma (6), diffuse idiopathic skeletal hyperostosis (6), pancreatic cancer (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 77.81 RPKM in Esophagus - Gastroesophageal Junction
Total median expression: 1408.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.1098-0.358 Picture PostScript Text
3' UTR -210.10614-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002259 - Eqnu_transpt

Pfam Domains:
PF01733 - Nucleoside transporter

SCOP Domains:
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on Q99808
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005337 nucleoside transmembrane transporter activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0007595 lactation
GO:0015858 nucleoside transport
GO:0015862 uridine transport
GO:0030431 sleep
GO:0060079 excitatory postsynaptic potential
GO:0071333 cellular response to glucose stimulus
GO:0071456 cellular response to hypoxia
GO:1901642 nucleoside transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0098794 postsynapse


-  Descriptions from all associated GenBank mRNAs
  BC095398 - Homo sapiens cDNA clone IMAGE:30348758, containing frame-shift errors.
AK304285 - Homo sapiens cDNA FLJ57777 complete cds, highly similar to Equilibrative nucleoside transporter 1.
AK090491 - Homo sapiens cDNA FLJ33172 fis, clone ADRGL2002029, highly similar to Equilibrative nucleoside transporter 1.
AX746476 - Sequence 1 from Patent EP1308459.
AB490708 - Homo sapiens SLC29A1 mRNA for equilibrative nucleoside transporter 1, partial cds, clone: SLC29A1-d2/4.
AX775997 - Sequence 267 from Patent WO03048202.
U81375 - Human placental equilibrative nucleoside transporter 1 (hENT1) mRNA, complete cds.
AF079117 - Homo sapiens equilibrative NBMPR-sensitive nucleoside transporter (ENT1) mRNA, complete cds.
BC001382 - Homo sapiens solute carrier family 29 (nucleoside transporters), member 1, mRNA (cDNA clone MGC:1465 IMAGE:3051441), complete cds.
AK293558 - Homo sapiens cDNA FLJ58447 complete cds, highly similar to Equilibrative nucleoside transporter 1.
BC008954 - Homo sapiens solute carrier family 29 (nucleoside transporters), member 1, mRNA (cDNA clone MGC:3778 IMAGE:3010092), complete cds.
AK090615 - Homo sapiens cDNA FLJ33296 fis, clone BNGH42001247, highly similar to Equilibrative nucleoside transporter 1.
AB490709 - Homo sapiens SLC29A1 mRNA for equilibrative nucleoside transporter 1, partial cds, clone: SLC29A1-b2/4.
JD343274 - Sequence 324298 from Patent EP1572962.
DQ892133 - Synthetic construct clone IMAGE:100004763; FLH183313.01X; RZPDo839A11142D solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1) gene, encodes complete protein.
DQ895327 - Synthetic construct Homo sapiens clone IMAGE:100009787; FLH183309.01L; RZPDo839A11141D solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1) gene, encodes complete protein.
CU679195 - Synthetic construct Homo sapiens gateway clone IMAGE:100019488 5' read SLC29A1 mRNA.
KJ891110 - Synthetic construct Homo sapiens clone ccsbBroadEn_00504 SLC29A1 gene, encodes complete protein.
JD022989 - Sequence 4013 from Patent EP1572962.
JD561757 - Sequence 542781 from Patent EP1572962.
JD316629 - Sequence 297653 from Patent EP1572962.
JD422797 - Sequence 403821 from Patent EP1572962.
JD537056 - Sequence 518080 from Patent EP1572962.
JD193925 - Sequence 174949 from Patent EP1572962.
JD393686 - Sequence 374710 from Patent EP1572962.
JD556648 - Sequence 537672 from Patent EP1572962.
JD258061 - Sequence 239085 from Patent EP1572962.
JD133152 - Sequence 114176 from Patent EP1572962.
JD174467 - Sequence 155491 from Patent EP1572962.
JD548273 - Sequence 529297 from Patent EP1572962.
JD528010 - Sequence 509034 from Patent EP1572962.
JD102283 - Sequence 83307 from Patent EP1572962.
JD222184 - Sequence 203208 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99808 (Reactome details) participates in the following event(s):

R-HSA-109534 Equilibrative transport (export) of nucleosides and free bases by solute carrier family 29 (nucleoside transporters), member 1
R-HSA-109536 Equilibrative transport (import) of nucleosides and free bases by solute carrier family 29 (nucleoside transporters), member 1
R-HSA-109527 Equilibrative transport (import) of nucleosides and free bases by solute carrier family 29 (nucleoside transporters), member 2
R-HSA-109529 Equilibrative transport (export) of nucleosides and free bases by solute carrier family 29 (nucleoside transporters), member 2
R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
R-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQV7, B3KQY5, ENST00000371755.1, ENST00000371755.2, ENST00000371755.3, ENST00000371755.4, ENST00000371755.5, ENST00000371755.6, ENST00000371755.7, ENST00000371755.8, ENT1, NM_001372327, Q5T9W9, Q99808, Q9UJY2, S29A1_HUMAN, SLC29A1 , uc318jjq.1, uc318jjq.2
UCSC ID: ENST00000371755.9_7
RefSeq Accession: NM_001372327.1
Protein: Q99808 (aka S29A1_HUMAN or S291_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.