Details for: SLC29A3
Associated with
Other Information
Genular Protein ID: 3997482896
Symbol: S29A3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11396612
Title: The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.
PubMed ID: 11396612
PubMed ID: 12384580
Title: Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.
PubMed ID: 12384580
DOI: 10.1093/nar/gkf564
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15701636
Title: Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.
PubMed ID: 15701636
PubMed ID: 17897319
Title: Integral and associated lysosomal membrane proteins.
PubMed ID: 17897319
PubMed ID: 19164483
Title: Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3.
PubMed ID: 19164483
PubMed ID: 20595384
Title: Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
PubMed ID: 20595384
PubMed ID: 22174130
Title: Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.
PubMed ID: 22174130
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 28729424
Title: Molecular determinants of acidic pH-dependent transport of human equilibrative nucleoside transporter 3.
PubMed ID: 28729424
PubMed ID: 18940313
Title: The H syndrome is caused by mutations in the nucleoside transporter hENT3.
PubMed ID: 18940313
PubMed ID: 19336477
Title: SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
PubMed ID: 19336477
DOI: 10.1093/hmg/ddp161
PubMed ID: 20199539
Title: H syndrome: novel and recurrent mutations in SLC29A3.
PubMed ID: 20199539
PubMed ID: 20619369
Title: Expanding the clinical spectrum of SLC29A3 gene defects.
PubMed ID: 20619369
PubMed ID: 20399510
Title: Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
PubMed ID: 20399510
PubMed ID: 19889517
Title: The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
PubMed ID: 19889517
PubMed ID: 20140240
Title: Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PubMed ID: 20140240
PubMed ID: 21888995
Title: Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
PubMed ID: 21888995
Sequence Information:
- Length: 475
- Mass: 51815
- Checksum: DBF0918ECA6D5A70
- Sequence:
MAVVSEDDFQ HSSNSTYRTT SSSLRADQEA LLEKLLDRPP PGLQRPEDRF CGTYIIFFSL GIGSLLPWNF FITAKEYWMF KLRNSSSPAT GEDPEGSDIL NYFESYLAVA STVPSMLCLV ANFLLVNRVA VHIRVLASLT VILAIFMVIT ALVKVDTSSW TRGFFAVTIV CMVILSGAST VFSSSIYGMT GSFPMRNSQA LISGGAMGGT VSAVASLVDL AASSDVRNSA LAFFLTATVF LVLCMGLYLL LSRLEYARYY MRPVLAAHVF SGEEELPQDS LSAPSVASRF IDSHTPPLRP ILKKTASLGF CVTYVFFITS LIYPAICTNI ESLNKGSGSL WTTKFFIPLT TFLLYNFADL CGRQLTAWIQ VPGPNSKALP GFVLLRTCLI PLFVLCNYQP RVHLKTVVFQ SDVYPALLSS LLGLSNGYLS TLALLYGPKI VPRELAEATG VVMSFYVCLG LTLGSACSTL LVHLI
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.