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|---|---|
| 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 | nucleoside |
Cross database links:
| 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
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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
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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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