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Aliases for SLC29A3 Gene

Aliases for SLC29A3 Gene

  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3 2 3
  • ENT3 3 4 6
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 3 2 3
  • HCLAP 3 6
  • PHID 3 6
  • Equilibrative Nucleoside Transporter 3 3
  • Solute Carrier Family 29 Member 3 4
  • HENT3 4
  • HJCD 3

External Ids for SLC29A3 Gene

Previous GeneCards Identifiers for SLC29A3 Gene

  • GC10P072971
  • GC10P072427
  • GC10P072423
  • GC10P072749
  • GC10P073080
  • GC10P067074

Summaries for SLC29A3 Gene

Entrez Gene Summary for SLC29A3 Gene

  • This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

GeneCards Summary for SLC29A3 Gene

SLC29A3 (Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3) is a Protein Coding gene. Diseases associated with SLC29A3 include histiocytosis-lymphadenopathy plus syndrome and dysosteosclerosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A2.

UniProtKB/Swiss-Prot for SLC29A3 Gene

  • 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.

Tocris Summary for SLC29A3 Gene

  • Nucleoside transporters are divided into two families; the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1-3) display subtype-selective expression patterns; CNT1 is localized primarily to epithelial tissue whereas CNT2 and CNT3 have more widespread distributions. SLC29 family transporters (ENT1-4) are glycosylated proteins, localized to the plasma and mitochondrial membranes. They are expressed in the heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen. They mediate nucleoside influx and efflux and exhibit highest affinity for adenosine. CNT and ENT transporters play critical roles in nucleoside salvage pathways where they mediate the first step of nucleotide biosynthesis. In addition, these transporters work in concert to terminate adenosine signaling and are vital determinants in the response to a variety of anticancer and antiviral treatments, as they modulate the entry of these nucleoside analogs into target tissues.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC29A3 Gene

Genomics for SLC29A3 Gene

Regulatory Elements for SLC29A3 Gene

Transcription factor binding sites by QIAGEN in the SLC29A3 gene promoter:

Genomic Location for SLC29A3 Gene

Start:
71,319,253 bp from pter
End:
71,363,390 bp from pter
Size:
44,138 bases
Orientation:
Plus strand

Genomic View for SLC29A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC29A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A3 Gene

Proteins for SLC29A3 Gene

  • Protein details for SLC29A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZD2-S29A3_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 3
    Protein Accession:
    Q9BZD2
    Secondary Accessions:
    • B2RB50
    • B4E2Z9
    • B7ZA37
    • Q0VAM9
    • Q5T465
    • Q7RTT8
    • Q8IVZ0
    • Q9BWI2
    • Q9NUS9

    Protein attributes for SLC29A3 Gene

    Size:
    475 amino acids
    Molecular mass:
    51815 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92041.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC29A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A3 Gene

Proteomics data for SLC29A3 Gene at MOPED

Post-translational modifications for SLC29A3 Gene

  • Glycosylation at Asn84
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC29A3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC29A3 Gene

Domains for SLC29A3 Gene

Gene Families for SLC29A3 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC29A3 Gene

Suggested Antigen Peptide Sequences for SLC29A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZD2

UniProtKB/Swiss-Prot:

S29A3_HUMAN :
  • Q9BZD2
Family:
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
genes like me logo Genes that share domains with SLC29A3: view

Function for SLC29A3 Gene

Molecular function for SLC29A3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.86 mM for adenosine {ECO:0000269 PubMed:15701636}; KM=2.02 mM for uridine {ECO:0000269 PubMed:15701636}; pH dependence: Optimum pH is 5.5 for adenosine uptake. {ECO:0000269 PubMed:15701636};
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC29A3: view
genes like me logo Genes that share phenotypes with SLC29A3: view

Animal Model Products

CRISPR Products

miRNA for SLC29A3 Gene

miRTarBase miRNAs that target SLC29A3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC29A3 Gene

Localization for SLC29A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A3 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC29A3 Gene COMPARTMENTS Subcellular localization image for SLC29A3 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome --
GO:0016021 integral component of membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with SLC29A3: view

Pathways for SLC29A3 Gene

genes like me logo Genes that share pathways with SLC29A3: view

Interacting Proteins for SLC29A3 Gene

Gene Ontology (GO) - Biological Process for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0015858 nucleoside transport --
GO:0055085 transmembrane transport TAS --
GO:1901642 nucleoside transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC29A3: view

Compounds for SLC29A3 Gene

(4) Tocris Compounds for SLC29A3 Gene

Compound Action Cas Number
Decynium 22 PMAT inhibitor [977-96-8]
Dilazep dihydrochloride Adenosine uptake inhibitor [20153-98-4]
Dipyridamole Adenosine transport inhibitor [58-32-2]
NBMPR Equilibrative nucleoside transporter 1 (ENT1) inhibitor [38048-32-7]

(1) HMDB Compounds for SLC29A3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenine
  • 1,6-Dihydro-6-iminopurine
73-24-5
genes like me logo Genes that share compounds with SLC29A3: view

Transcripts for SLC29A3 Gene

Unigene Clusters for SLC29A3 Gene

Solute carrier family 29 (nucleoside transporters), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC29A3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2:
SP3: - -
SP4: - - - -
SP5:
SP6: -

Relevant External Links for SLC29A3 Gene

GeneLoc Exon Structure for
SLC29A3
ECgene alternative splicing isoforms for
SLC29A3

Expression for SLC29A3 Gene

mRNA expression in normal human tissues for SLC29A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC29A3 Gene

SOURCE GeneReport for Unigene cluster for SLC29A3 Gene Hs.438419

mRNA Expression by UniProt/SwissProt for SLC29A3 Gene

Q9BZD2-S29A3_HUMAN
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.
genes like me logo Genes that share expressions with SLC29A3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SLC29A3 Gene

Orthologs for SLC29A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC29A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC29A3 35
  • 98.6 (n)
  • 99.16 (a)
SLC29A3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 81 (a)
OneToMany
SLC29A3 35
  • 83.54 (n)
  • 79.96 (a)
SLC29A3 36
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SLC29A3 35
  • 82.73 (n)
  • 79.83 (a)
SLC29A3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc29a3 35
  • 78.18 (n)
  • 74.11 (a)
Slc29a3 16
Slc29a3 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC29A3 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc29a3 35
  • 76.63 (n)
  • 72.63 (a)
chicken
(Gallus gallus)
Aves SLC29A3 35
  • 69.24 (n)
  • 62.81 (a)
SLC29A3 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC29A3 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc29a3 35
  • 59.32 (n)
  • 53.85 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101887173 35
  • 61.83 (n)
  • 57.7 (a)
slc29a3 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ent1 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ent-1 36
  • 26 (a)
ManyToMany
Species with no ortholog for SLC29A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC29A3 Gene

ENSEMBL:
Gene Tree for SLC29A3 (if available)
TreeFam:
Gene Tree for SLC29A3 (if available)

Paralogs for SLC29A3 Gene

Paralogs for SLC29A3 Gene

Selected SIMAP similar genes for SLC29A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC29A3: view

Variants for SLC29A3 Gene

Sequence variations from dbSNP and Humsavar for SLC29A3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs703256 -- 71,359,266(-) TGTCT(A/G)TGAGC intron-variant
rs703257 -- 71,359,378(-) GCATC(A/G)CCTCA intron-variant
rs780653 -- 71,358,528(+) CTGTG(C/G)CCTGG intron-variant
rs780654 -- 71,359,476(-) AGCGT(C/T)GTCAG intron-variant
rs780655 -- 71,359,732(+) CCAGA(A/G)AGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC29A3 Gene

Variant ID Type Subtype PubMed ID
nsv467371 CNV Gain 19166990

Relevant External Links for SLC29A3 Gene

HapMap Linkage Disequilibrium report
SLC29A3
Human Gene Mutation Database (HGMD)
SLC29A3
Locus Specific Mutation Databases (LSDB)
SLC29A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A3 Gene

Disorders for SLC29A3 Gene

(1) OMIM Diseases for SLC29A3 Gene (612373)

UniProtKB/Swiss-Prot

S29A3_HUMAN
  • 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:20619369, ECO:0000269 PubMed:21888995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SLC29A3 Gene

Relevant External Links for SLC29A3

Genetic Association Database (GAD)
SLC29A3
Human Genome Epidemiology (HuGE) Navigator
SLC29A3
genes like me logo Genes that share disorders with SLC29A3: view

Publications for SLC29A3 Gene

  1. The H syndrome is caused by mutations in the nucleoside transporter hENT3. (PMID: 18940313) Molho-Pessach V. … Zlotogorski A. (Am. J. Hum. Genet. 2008) 3 4 23
  2. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. (PMID: 11396612) Hyde R.J. … Baldwin S.A. (Mol. Membr. Biol. 2001) 2 3 4
  3. Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity. (PMID: 12384580) Sankar N. … Coe I.R. (Nucleic Acids Res. 2002) 3 4
  4. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. (PMID: 19164483) Govindarajan R. … Unadkat J.D. (Am. J. Physiol. Gastrointest. Liver Physiol. 2009) 3 23
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for SLC29A3 Gene

Sources for SLC29A3 Gene

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