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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:SLC29A1

Protein Summary

check button Gene summary
Gene name: SLC29A1
ASpdb.0 ID: 2030
Gene
Gene symbol

SLC29A1

Gene ID

2030

Gene namesolute carrier family 29 member 1 (Augustine blood group)
SynonymsAUG|ENT1|hENT1
Cytomap

6p21.1

Type of geneprotein-coding
Descriptionequilibrative nucleoside transporter 1equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporteres nucleoside transporternucleoside transporter, es-typesolute carrier family 29 (equilibrative nucleoside transporter), mem
Modification date20240411
UniProtAcc

Q99808


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneSLC29A1

GO:0005326

neurotransmitter transmembrane transporter activity

9396714

GeneSLC29A1

GO:0005337

nucleoside transmembrane transporter activity

10722669|12527552|35790189

GeneSLC29A1

GO:0005886

plasma membrane

23137377

GeneSLC29A1

GO:0006836

neurotransmitter transport

9396714

GeneSLC29A1

GO:0015207

adenine transmembrane transporter activity

21795683

GeneSLC29A1

GO:0015208

guanine transmembrane transporter activity

21795683

GeneSLC29A1

GO:0015210

uracil transmembrane transporter activity

21795683

GeneSLC29A1

GO:0015211

purine nucleoside transmembrane transporter activity

9396714

GeneSLC29A1

GO:0015212

cytidine transmembrane transporter activity

10722669

GeneSLC29A1

GO:0015213

uridine transmembrane transporter activity

8986748|9396714|10722669|10755314

GeneSLC29A1

GO:0015389

pyrimidine- and adenosine-specific:sodium symporter activity

21795683

GeneSLC29A1

GO:0015851

nucleobase transport

21795683

GeneSLC29A1

GO:0015853

adenine transport

21795683

GeneSLC29A1

GO:0015858

nucleoside transport

8986748|10722669|10755314|12527552|35790189

GeneSLC29A1

GO:0015860

purine nucleoside transmembrane transport

9396714

GeneSLC29A1

GO:0015861

cytidine transport

10722669

GeneSLC29A1

GO:0015862

uridine transmembrane transport

8986748|10722669|10755314

GeneSLC29A1

GO:0016323

basolateral plasma membrane

12527552|23639800

GeneSLC29A1

GO:0016324

apical plasma membrane

12527552

GeneSLC29A1

GO:0032238

adenosine transport

8986748|9396714|10722669|12527552

GeneSLC29A1

GO:0035340

inosine transport

10722669|12527552|35790189

GeneSLC29A1

GO:0035344

hypoxanthine transport

21795683

GeneSLC29A1

GO:0035364

thymine transport

21795683

GeneSLC29A1

GO:1901642

nucleoside transmembrane transport

8986748|10722669|10755314|12527552|35790189

GeneSLC29A1

GO:1903716

guanine transmembrane transport

21795683

GeneSLC29A1

GO:1903791

uracil transmembrane transport

21795683

GeneSLC29A1

GO:1904082

pyrimidine nucleobase transmembrane transport

21795683

GeneSLC29A1

GO:1904823

purine nucleobase transmembrane transport

21795683



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q99808-1Q99808-1_6ob7_A.pdb6OB7X-ray2.3A7452

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q99808SLC29A1Q99808-1Q99808-245653511SubstitutionMMRRERTRGPQAWEFPSPTKSGCSLQSLSRDLRELREGEKPEDQAETEESWQGLARKTPGKACAPEGGSCQPGKTENTITM180

check buttonMultiple sequence alignment of our canonical and alternatively spliced SLC29A1

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of SLC29A1
UniProt-idENSGENSTENSP
Q99808-1ENSG00000112759.19ENST00000371708.1ENSP00000360773.1
Q99808-1ENSG00000112759.19ENST00000371713.6ENSP00000360778.1
Q99808-1ENSG00000112759.19ENST00000371724.6ENSP00000360789.1
Q99808-1ENSG00000112759.19ENST00000371755.9ENSP00000360820.3
Q99808-1ENSG00000112759.19ENST00000393844.7ENSP00000377427.1
Q99808-1ENSG00000112759.19ENST00000651428.1ENSP00000498610.1
Q99808-1ENSG00000112759.19ENST00000652453.1ENSP00000499107.1
Q99808-1ENSG00000112759.19ENST00000652680.1ENSP00000498747.1

UniProt-idNM IDNP ID
Q99808-1NM_001078175.2NP_001071643.1
Q99808-1NM_001078177.1NP_001071645.1
Q99808-1XM_005248876.4XP_005248933.1
Q99808-1XM_005248878.3XP_005248935.1
Q99808-1XM_005248880.3XP_005248937.1
Q99808-1XM_005248881.3XP_005248938.1
Q99808-1XM_005248882.3XP_005248939.1
Q99808-2NM_001304462.1NP_001291391.1

check buttonAmino acid sequences of our canonical and alternatively spliced SLC29A1
accession_idProtein sequence
Q99808-1MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAML
PLLLFTYLNSFLHQRIPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQ
GLAGFFASVAMICAIASGSELSESAFGYFITACAVIILTIICYLGLPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSV
SNSQPTNESHSIKAILKNISVLAFSVCFIFTITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRW
LPSLVLARLVFVPLLLLCNIKPRRYLTVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPKKVKPAEAETAGAIMAFFLCLGLALGAVFSF
Q99808-2MRRERTRGPQAWEFPSPTKSGCSLQSLSRDLRELREGEKPEDQAETEESWQGLARKTPGKACAPEGGSCQPGKTENTITMTTSHQPQDRY
KAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSF
LHQRIPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQGLAGFFASVAM
ICAIASGSELSESAFGYFITACAVIILTIICYLGLPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPTNESHS
IKAILKNISVLAFSVCFIFTITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRWLPSLVLARLVF

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
SLC29A1 (go to UniProt):Q99808

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


Gene Isoform Structures and Expression Levels for SLC29A1

check buttonGene structures of our canonical and alternative spliced genes of SLC29A1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of SLC29A1

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of Q99808-1
3D view using mol* of Q99808-2


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of Q99808-1
all structure
pLDDT distribution across the protein length of Q99808-2
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of Q99808-1
all structure
Ramachandran plot of Q99808-2
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
Q99808-11.0913561.123930.2160.4560.7931.051.0830.8991.2050.76725,26,28,29,30,33,34,35,36,37,38,81,82,84,85,88,89
,92,119,123,150,151,154,158,177,180,181,184,187,18
8,191,194,195,201,204,205,208,300,303,304,307,308,
309,315,316,317,319,325,326,328,329,330,334,337,33
8,341,345,379,381,407,438,442,446,449,450,453
Q99808-21.0863701.119911.6940.4490.7831.021.0320.8921.1560.754103,104,105,107,108,109,112,113,114,115,116,117,16
0,161,163,164,167,168,171,198,202,229,230,233,236,
237,241,256,259,260,263,266,267,270,273,274,277,27
8,280,283,284,287,379,382,383,386,387,388,391,393,
394,395,396,398,404,405,406,407,408,409,413,416,41
7,420,424,458,460,486,517,518,521,525,528,529,532


Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of Q99808-1_Q99808-1_6ob7_A.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q99808-1_6ob7_A_Q99808-2.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q99808-1_Q99808-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q99808-1_vs_Q99808-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q99808-1_vs_Q99808-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to SLC29A1


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
Q99808SLC29A1DB12010Fostamatinibapproved, investigationalinhibitor
Q99808SLC29A1DB00197Troglitazoneapproved, investigational, withdrawninhibitor
Q99808SLC29A1DB00898Ethanolapproved

Related Diseases to SLC29A1


check button Previous studies relating to the alternative splicing of SLC29A1 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in SLC29A1


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance