SLCtables

SLC29A3

Protein name: ENT3 Aliases: N/D Substrates: N/D Transport type: unclear, possibly proton-linked Tissue and cellular expression: widely expressed Subcellular expression: intracellular (late endosomal/ lysosomal, mitochondrial membranes) Disease: N/D Locus: 10q22.1 Sequence ID: NP_001167569.1, NM_001174098.1 NP_060814.4, NM_018344.5 Gene ID: 55315 Splice variants: M116R, G427S, G437R and T449R, and various frameshift mutations abolish or reduce transport activity, or cause mistrafficking or protein instability, they are variously associated with H, FHC and PHID syndromes and Rosai-Dorfman disease

S29A3_HUMAN (UniProt)

Gene names: SLC29A3, ENT3, UNQ717/PRO1380
Protein names and data: S29A3_HUMAN, Full=Equilibrative nucleoside transporter 3;Short=hENT3, Full=Solute carrier family 29 member 3; Length: 475 a.a., Mass: 51815 Da,
fasta formatted sequence
Function: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine
Disease: (OMIM: 602782 612373) Defects in SLC29A3 are the cause of 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
Cellular location: Membrane; Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface
Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart

Database cross-references

UniProt: Q9BZD2
NextBio: 59559
OMIM: 602782 612373
Ensembl: ENST00000373189
GeneCard: GC10P071320
TCDB: 2.A.57.1.6
PharmGenUCSF: SLC29A3
Guide to Pharmacology: SLC29A3 (1119)
SLC29 family (1119)
HGNC: HGNC:23096

Genetic variants

See also Ensembl:ENST00000373189

18 - 18 R -> G (in dbSNP:rs2277257). VAR_018662 2277257
116 - 116 M -> R (in HLAS; partially retained in the endoplasmic reticulum; results in reduced nucleoside transport). VAR_067801
134 - 134 R -> C (in HLAS). VAR_067802
158 - 158 S -> F (in dbSNP:rs780668). VAR_018663 780668
163 - 163 G -> V (in dbSNP:rs143557881). VAR_067803 143557881
184 - 184 S -> R (in HLAS). VAR_067804
239 - 239 V -> I (in dbSNP:rs2252996). VAR_018664 2252996
281 - 281 L -> P (in dbSNP:rs79737301). VAR_067805 79737301
326 - 326 I -> V (in dbSNP:rs2487068). VAR_018665 2487068
363 - 363 R -> Q (in HLAS). VAR_067806
363 - 363 R -> W (in HLAS). VAR_067807
407 - 407 V -> M (in dbSNP:rs144517514). VAR_067808 144517514
427 - 427 G -> S (in HLAS; almost total loss of nucleoside transport; dbSNP:rs121912583). VAR_057884 121912583
437 - 437 G -> R (in HLAS; results in reduced nucleoside transport; dbSNP:rs121912584). VAR_057885 121912584
449 - 449 T -> R (in HLAS; results in reduced nucleoside transport). VAR_067809
452 - 452 V -> E (in dbSNP:rs999940). VAR_018666 999940