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Details on Person UniProt:Q9BZD2 SLC29A3
| Class:Id | ReferenceGeneProduct:153494 |
|---|---|
| _chainChangeLog | chain:1-475 added on Fri February 6 2015 |
| _displayName | UniProt:Q9BZD2 SLC29A3 |
| _timestamp | 2024-11-03 20:11:57 |
| chain | chain:1-475 |
| checksum | DBF0918ECA6D5A70 |
| comment | FUNCTION Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (PubMed:15701636, PubMed:19164483, PubMed:28729424). Substrate transport is pH-dependent and enhanced under acidic condition, probably reflecting the location of the transporter in acidic intracellular compartments (PubMed:15701636, PubMed:19164483, PubMed:28729424). Proton is not a cotransporting ion but most likely change the ionization state of the transporter which dictates transport-permissible/impermissible conformation for nucleoside translocation (PubMed:28729424). May direct the nucleoside transport from lysosomes to cytosol or cytosol to mitochondria to facilitate the fundamental function of salvage synthesis of nucleic acids (PubMed:28729424). Involved in the transport of nucleosides (adenosine, guanosine, uridine, thymidine, cytidine and inosine) and deoxynucleosides (deoxyadenosine, deoxycytidine) (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Also mediates transport of purine nucleobases (adenine, guanine) and pyrimidine nucleobases (uracil) (PubMed:15701636, PubMed:19164483). Also able to transport monoamine neurotransmitters dopamine, serotonin, noradrenaline and tyramine (PubMed:19164483). Capable of transporting ATP (PubMed:19164483). Mediates nucleoside export from lysosomes in macrophages, which regulates macrophage functions and numbers (By similarity).CATALYTIC ACTIVITY adenosine(in) = adenosine(out)CATALYTIC ACTIVITY guanosine(in) = guanosine(out)CATALYTIC ACTIVITY inosine(in) = inosine(out)CATALYTIC ACTIVITY uridine(out) = uridine(in)CATALYTIC ACTIVITY cytidine(in) = cytidine(out)CATALYTIC ACTIVITY thymidine(in) = thymidine(out)CATALYTIC ACTIVITY 2'-deoxyadenosine(in) = 2'-deoxyadenosine(out)CATALYTIC ACTIVITY 2'-deoxycytidine(in) = 2'-deoxycytidine(out)CATALYTIC ACTIVITY guanine(out) = guanine(in)CATALYTIC ACTIVITY uracil(in) = uracil(out)CATALYTIC ACTIVITY (R)-noradrenaline(out) = (R)-noradrenaline(in)CATALYTIC ACTIVITY dopamine(out) = dopamine(in)CATALYTIC ACTIVITY serotonin(out) = serotonin(in)CATALYTIC ACTIVITY tyramine(in) = tyramine(out)CATALYTIC ACTIVITY ATP(in) = ATP(out)BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is 5.5 for adenosine transport (PubMed:15701636, PubMed:19164483, PubMed:28729424). No adenosine transport at pH 7.4 (PubMed:28729424).INTERACTION Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes (PubMed:15701636). Detected at the cell surface only in certain placental cells (PubMed:19164483).ALTERNATIVE PRODUCTS Widely expressed in both adult and fetal tissues (PubMed:15701636). Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow (PubMed:15701636). Expressed in liver (PubMed:19164483). Lowest levels in brain and heart (PubMed:15701636). Expressed in macrophages (PubMed:22174130).DOMAIN Contains a N-terminal dileucine motif (DE)XXXL(LI) important for endosomal/lysosomal and mitochondrial subcellular localization.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Transports nucleoside analog drugs such as cladribine, cordycepin, tubercidin and idovudine (PubMed:15701636, PubMed:19164483). Also involved in the uptake of diabetes treatment medicine metformin, neurotoxin 1-methyl-4-phenylpyridinium (MPP(+)), and ribavirin (PubMed:19164483). Transport activity is insensitive to nanomolar concentrations of the inhibitors nitrobenzylmercaptopurine riboside, dipyridamole and dilazep, and inhibited by higher concentrations (PubMed:15701636). Does not transport hypoxanthine (PubMed:15701636, PubMed:19164483). A truncated version of SLC29A3/hENT3 in which the N-terminal 36 amino acids are deleted, enables cell-surface localization of an otherwise intracellular transporter, and is utilized to investigate the transporter activity (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424).SIMILARITY Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 |
| description | recommendedName: fullName evidence="24"Equilibrative nucleoside transporter 3 shortName evidence="24"hENT3 alternativeName: fullName evidence="25"Solute carrier family 29 member 3 |
| geneName | SLC29A3 ENT3 UNQ717/PRO1380 |
| identifier | Q9BZD2 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell membrane Disease variant Endosome Glycoprotein Lysosome Membrane Mitochondrion Phosphoprotein Proteomics identification Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SLC29A3 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988649] ENSEMBL:ENSG00000198246 SLC29A3 [Homo sapiens] |
| secondaryIdentifier | S29A3_HUMAN B2RB50 B4E2Z9 B7ZA37 Q0VAM9 Q5T465 Q7RTT8 Q8IVZ0 Q9BWI2 Q9NUS9 |
| sequenceLength | 475 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:436056] UniProt:Q9BZD2-1 SLC29A3 [Homo sapiens] [ReferenceIsoform:436057] UniProt:Q9BZD2-2 SLC29A3 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:727733] SLC29A3 [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628740] SLC29A3 G427S [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628763] SLC29A3 R363Q [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628764] SLC29A3 M116R [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628793] SLC29A3 R363W [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628797] SLC29A3 L348Sfs*56 [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:5628819] SLC29A3 R386Q [lysosomal membrane] [Homo sapiens] [EntityWithAccessionedSequence:9754911] SLC29A3 [mitochondrial outer membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:5628737] L-arginine 386 replaced with L-glutamine [ReplacedResidue:5628749] L-arginine 363 replaced with L-glutamine [ReplacedResidue:5628753] glycine 427 replaced with L-serine [FragmentReplacedModification:5628762] Replacement of residues 348 to 403 by SLPSSCTTLLTYVAGSSPPGSRCQGPIARRSQGSCSSGPASSPSSCSVTTSPAST [ReplacedResidue:5628788] L-methionine 116 replaced with L-arginine [ReplacedResidue:5628814] L-arginine 363 replaced with L-phenylalanine |
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No pathways have been reviewed or authored by UniProt:Q9BZD2 SLC29A3 (153494)
