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2.A.57.1.6
Equilibrative (Na+-independent) low affinity nucleoside transporter, hENT3 or SLC29A3 (transports nucleosides with broad selectivity and low affinity; also transports adenine). Relatively low sensitivity to classical nucleoside transport inhibitors, nitrobenzylthioinosine, dipyridamole, and dilazep. pH optimum=5.5; present in acidic intracellular compartments (Baldwin et al., 2005). (Present largely in the lysosomes). May cause histiocytosis, perturb lysosome function and upset macrophage homeostasis when defective (Hsu et al., 2012; Farooq et al., 2012).  A single nucleotide polymorphism (SNP) in ENT3 may be a risk factor for squamous cell carcioma (Li et al. 2010).  Mutations cause H syndrome, an autosomal recessive genodermatosis characterized by hyperpigmented and hypertrichotic skin (Liu et al. 2015).

Accession Number:Q9BZD2
Protein Name:Equilibrative nucleoside transporter 3 (Solute carrier family 29, member 3)
Length:475
Molecular Weight:51801.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Nucleosides

Cross database links:

Genevestigator: Q9BZD2 Q9BZD2
eggNOG: prNOG06139 NOG249415
RefSeq: NP_060814.4   
Entrez Gene ID: 55315   
Pfam: PF01733   
OMIM: 612373  gene
612391  phenotype
KEGG: hsa:55315    hsa:55315   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0031902 C:late endosome membrane
GO:0005765 C:lysosomal membrane
GO:0005337 F:nucleoside transmembrane transporter activity
GO:0055085 P:transmembrane transport

References (25)

[1] “The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.”  Hyde R.J.et.al.   11396612
[2] “Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.”  Sankar N.et.al.   12384580
[3] “The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.”  Clark H.F.et.al.   12975309
[4] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[5] “The DNA sequence and comparative analysis of human chromosome 10.”  Deloukas P.et.al.   15164054
[6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[7] “Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.”  Baldwin S.A.et.al.   15701636
[8] “The H syndrome is caused by mutations in the nucleoside transporter hENT3.”  Molho-Pessach V.et.al.   18940313
[9] “The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.”  Hyde R.J.et.al.   11396612
[10] “Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.”  Sankar N.et.al.   12384580
[11] “The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.”  Clark H.F.et.al.   12975309
[12] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[13] “The DNA sequence and comparative analysis of human chromosome 10.”  Deloukas P.et.al.   15164054
[14] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[15] “Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.”  Baldwin S.A.et.al.   15701636
[16] “Integral and associated lysosomal membrane proteins.”  Schroeder B.et.al.   17897319
[17] “Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.”  Kang N.et.al.   20595384
[18] “The H syndrome is caused by mutations in the nucleoside transporter hENT3.”  Molho-Pessach V.et.al.   18940313
[19] “SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.”  Cliffe S.T.et.al.   19336477
[20] “H syndrome: novel and recurrent mutations in SLC29A3.”  Priya T.P.et.al.   20199539
[21] “Expanding the clinical spectrum of SLC29A3 gene defects.”  Spiegel R.et.al.   20619369
[22] “Early-onset sensorineural hearing loss is a prominent feature of H syndrome.”  Ramot Y.et.al.   20399510
[23] “The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.”  Molho-Pessach V.et.al.   19889517
[24] “Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.”  Morgan N.V.et.al.   20140240
[25] “Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.”  Jonard L.et.al.   21888995

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MAVVSEDDFQ HSSNSTYRTT SSSLRADQEA LLEKLLDRPP PGLQRPEDRF CGTYIIFFSL 
61:	GIGSLLPWNF FITAKEYWMF KLRNSSSPAT GEDPEGSDIL NYFESYLAVA STVPSMLCLV 
121:	ANFLLVNRVA VHIRVLASLT VILAIFMVIT ALVKVDTSSW TRGFFAVTIV CMVILSGAST 
181:	VFSSSIYGMT GSFPMRNSQA LISGGAMGGT VSAVASLVDL AASSDVRNSA LAFFLTATVF 
241:	LVLCMGLYLL LSRLEYARYY MRPVLAAHVF SGEEELPQDS LSAPSVASRF IDSHTPPLRP 
301:	ILKKTASLGF CVTYVFFITS LIYPAVCTNI ESLNKGSGSL WTTKFFIPLT TFLLYNFADL 
361:	CGRQLTAWIQ VPGPNSKALP GFVLLRTCLI PLFVLCNYQP RVHLKTVVFQ SDVYPALLSS 
421:	LLGLSNGYLS TLALLYGPKI VPRELAEATG VVMSFYVCLG LTLGSACSTL LVHLI