SLC29A3
entrez
55315
canonical
uniprot
Q9BZD2
canonical
ensembl
ENSG00000198246
resolver
ensp
ENSP00000362285
resolver
ensp
ENSP00000493995
resolver
ensp
ENSP00000676773
resolver
ensp
ENSP00000789243
resolver
ensp
ENSP00000800561
resolver
enst
ENST00000479577
resolver
genesymbol
SLC29A3
resolver
genesymbol_syn
ENT3
resolver
hgnc
HGNC:23096
resolver
uniprot
A0A2R8YDR8
resolver
uniprot
B2RB50
resolver
uniprot
B4E2Z9
resolver
uniprot
B7ZA37
resolver
uniprot
Q0VAM9
resolver
uniprot
Q5T465
resolver
uniprot
Q7RTT8
resolver
uniprot
Q8IVZ0
resolver
uniprot
Q9BWI2
resolver
uniprot
Q9NUS9
resolver
uniprot_entry
A0A2R8YDR8_HUMAN
resolver
uniprot_entry
S29A3_HUMAN
resolver
uniprot_sec
B2RB50
resolver
uniprot_sec
B4E2Z9
resolver
uniprot_sec
B7ZA37
resolver
uniprot_sec
Q0VAM9
resolver
uniprot_sec
Q5T465
resolver
uniprot_sec
Q7RTT8
resolver
uniprot_sec
Q8IVZ0
resolver
uniprot_sec
Q9BWI2
resolver
uniprot_sec
Q9NUS9
resolver
amino_acid_sequence
MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI
uniprot
proteins
disease_involvement
DISEASE: Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]: A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. {ECO:0000269|PubMed:18940313, ECO:0000269|PubMed:19336477, ECO:0000269|PubMed:19889517, ECO:0000269|PubMed:20140240, ECO:0000269|PubMed:20199539, ECO:0000269|PubMed:20399510, ECO:0000269|PubMed:20595384, ECO:0000269|PubMed:20619369, ECO:0000269|PubMed:21888995}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). Transport activity is pH-dependent and enhanced under acidic conditions, consistent with localization to acidic intracellular compartments (PubMed:15701636, PubMed:19164483, PubMed:28729424). Protons are not cotransported but likely modulate transport by altering the ionization state of the transporter which dictates its conformation, thereby regulating substrate permeability (PubMed:28729424). May direct the nucleoside transport from lysosomes to cytosol or cytosol to mitochondria to facilitate nucleic acid salvage pathways (PubMed:28729424). Transports nucleosides (adenosine, guanosine, uridine, thymidine, cytidine and inosine), deoxynucleosides (deoxyadenosine, deoxycytidine), purine nucleobases (adenine, guanine) and pyrimidine nucleobases (uracil) (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Also capable of transporting monoamine neurotransmitters dopamine, serotonin, noradrenaline and tyramine, as well as ATP (PubMed:19164483). Mediates nucleoside export from lysosomes in macrophages, thereby regulating macrophage function and number (By similarity). Also functions as a lysosomal urate exporter, contributing to intracellular urate disposal (PubMed:41476938). Regulates inflammasome activation via dual roles in urate and adenosine transport (PubMed:41476938). {ECO:0000250|UniProtKB:Q99P65, ECO:0000269|PubMed:15701636, ECO:0000269|PubMed:19164483, ECO:0000269|PubMed:20595384, ECO:0000269|PubMed:28729424, ECO:0000269|PubMed:41476938}.
uniprot
proteins
mass_dalton
51815
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="L->A: Localization at the cell surface; when associated with A-32."; /evidence="ECO:0000269|PubMed:15701636"; MUTAGEN 32; /note="L->A: Localization at the cell surface; when associated with A-31."; /evidence="ECO:0000269|PubMed:15701636"; MUTAGEN 48; /note="D->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 54; /note="Y->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 76; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 86; /note="S->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 92; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 93; /note="D->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 95; /note="E->A: Partial loss of acidic pH-dependent activity resulting in moderate emergence of adenosine transport at pH 7.4. Partial loss of acidic pH-dependent activity resulting in moderate emergence of adenosine transport at pH 7.4; when associated with D-219."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 98; /note="D->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 104; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 132; /note="H->A,D: Decreased adenosine transport at pH5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 132; /note="H->P,R: No change in adenosine transport at pH5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 134; /note="R->H: Loss of urate transport."; /evidence="ECO:0000269|PubMed:41476938"; MUTAGEN 156; /note="D->A: Decreased adenosine transport at pH5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 160; /note="W->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 180; /note="T->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 184; /note="S->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 187; /note="Y->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 190; /note="T->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 203; /note="S->P: Loss of urate transport."; /evidence="ECO:0000269|PubMed:41476938"; MUTAGEN 219; /note="D->A: Decreased adenosine transport at pH 5.5. Partial loss of acidic pH-dependent activity resulting in emergence of adenosine transport at pH 7.4. Decreased nucleoside transport at pH 5.5; when associated with A-447. Complete loss of acidic pH-dependent activity resulting in full nucleoside transport at pH 7.4 as observed at pH 5.5; when associated with A-447."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 225; /note="D->A: Decreased adenosine transport at pH5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 233; /note="F->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 244; /note="C->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 255; /note="E->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 268; /note="H->A,D,R: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 268; /note="H->P: No change in adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 273; /note="E->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 274; /note="E->A: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 275; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 279; /note="D->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 292; /note="D->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 294; /note="H->A,P,D,R: No change in adenosine transport."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 317; /note="F->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 331; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 334; /note="N->S: Decreased urate transport."; /evidence="ECO:0000269|PubMed:41476938"; MUTAGEN 359; /note="D->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 386; /note="R->Q: Loss of urate transport."; /evidence="ECO:0000269|PubMed:41476938"; MUTAGEN 398; /note="Y->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 403; /note="H->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 403; /note="H->P,D,R: Loss of adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 412; /note="D->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 419; /note="S->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 427; /note="G->A,F,Y,T: Results in impaired nucleoside transport."; /evidence="ECO:0000269|PubMed:20595384"; MUTAGEN 444; /note="E->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 447; /note="E->A: Decreased adenosine transport at pH 5.5. Partial loss of acidic pH-dependent activity resulting in emergence of adenosine transport at pH 7.4. Decreased nucleoside transport at pH 5.5; when associated with A-219. Complete loss of acidic pH-dependent activity resulting in full nucleoside transport at pH 7.4 as observed at pH 5.5; when associated with A-219."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 469; /note="T->A: Decreased adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 473; /note="H->A,P,D: Loss of adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424"; MUTAGEN 473; /note="H->R: No change in adenosine transport at pH 5.5."; /evidence="ECO:0000269|PubMed:28729424
uniprot
proteins
protein_family
SLC29A/ENT transporter (TC 2.A.57) family
uniprot
proteins
pubmed
11396612
uniprot
proteins
pubmed
12384580
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15701636
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18940313
uniprot
proteins
pubmed
19164483
uniprot
proteins
pubmed
19336477
uniprot
proteins
pubmed
19889517
uniprot
proteins
pubmed
20140240
uniprot
proteins
pubmed
20199539
uniprot
proteins
pubmed
20399510
uniprot
proteins
pubmed
20595384
uniprot
proteins
pubmed
20619369
uniprot
proteins
pubmed
21888995
uniprot
proteins
pubmed
22174130
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28729424
uniprot
proteins
pubmed
41476938
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:15701636, ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:15701636}; Multi-pass membrane protein {ECO:0000305}. Mitochondrion membrane {ECO:0000269|PubMed:19164483}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:19164483}; Multi-pass membrane protein {ECO:0000305}. Note=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). {ECO:0000269|PubMed:15701636, ECO:0000269|PubMed:19164483}.
uniprot
proteins
transmembrane_region
TRANSMEM 54..74; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 135..155; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 163..183; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 200..220; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 306..326; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 338..358; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 378..398; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 416..436; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 455..475; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins