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SLC29A3 Gene(Protein Coding)

Solute Carrier Family 29 Member 3

GCID:
GC10P071320
GIFtS:
59
Genes Participants
UDN Logo

Aliases for SLC29A3 Gene

Aliases for SLC29A3 Gene

  • Solute Carrier Family 29 Member 3 2 3 4
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3 2 3 5
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 3 2 3
  • ENT3 3 4
  • HCLAP 3
  • HENT3 4
  • HJCD 3
  • PHID 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 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 vitamins, nucleosides, and related molecules 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, 2 and 3) display subtype-selective tissue expression patterns.

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

Genomics for SLC29A3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SLC29A3 Gene

Enhancers for SLC29A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC29A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC29A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC29A3 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SLC29A3 Gene

Chromosome:
10
Start:
71,319,253 bp from pter
End:
71,363,396 bp from pter
Size:
44,144 bases
Orientation:
Plus strand

Genomic View for SLC29A3 Gene

Genes around SLC29A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC29A3 Gene

Proteins for SLC29A3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SLC29A3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC29A3 Gene

  • Glycosylation at Asn 84
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC29A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC29A3 Gene

Domains & Families for SLC29A3 Gene

Gene Families for SLC29A3 Gene

HGNC:
IUPHAR :

Protein Domains for SLC29A3 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for SLC29A3 Gene

MGI mutant phenotypes for SLC29A3:
inferred from 1 alleles
GenomeRNAi human phenotypes for SLC29A3:
genes like me logo Genes that share phenotypes with SLC29A3: view

Human Phenotype Ontology for SLC29A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC29A3 Gene

MGI Knock Outs for SLC29A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC29A3

CRISPR Products

miRNA for SLC29A3 Gene

miRTarBase miRNAs that target SLC29A3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with SLC29A3: view

Pathways & Interactions for SLC29A3 Gene

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

Interacting Proteins for SLC29A3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000362285%0d%0a9606.ENSP00000304697%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000431822%0d%0a9606.ENSP00000257570%0d%0a9606.ENSP00000366249%0d%0a
Selected Interacting proteins: ENSP00000362285 for SLC29A3 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC29A3 Gene

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

No data available for SIGNOR curated interactions for SLC29A3 Gene

Drugs & Compounds for SLC29A3 Gene

Products:

  1. Drug

(4) Drugs for SLC29A3 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra 0
Cilostazol Approved Pharma PDE3 inhibitor, PDE3A inhibitor. Also adenosine uptake inhibitor 101
Dipyridamole Approved Pharma Inhibition, Inhibitor Adenosine transport inhibitor 78
5-iodotubercidin Experimental Pharma Potent adenosine kinase inhibitor; also inhibits nucleoside transporters and a range of other kinases 0

(2) Additional Compounds for SLC29A3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dilazep dihydrochloride
20153-98-4
NBMPR
38048-32-7

(5) Tocris Compounds for SLC29A3 Gene

Compound Action Cas Number
5-Iodotubercidin Potent adenosine kinase inhibitor; also inhibits nucleoside transporters and a range of other kinases 24386-93-4
Cilostazol PDE3A inhibitor. Also adenosine uptake inhibitor 73963-72-1
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
genes like me logo Genes that share compounds with SLC29A3: view

Transcripts for SLC29A3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SLC29A3 Gene

(3) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(86) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC29A3 Gene

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

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for SLC29A3 Gene

mRNA expression in normal human tissues for SLC29A3 Gene
mRNA expression by BioGPS for SLC29A3 GenemRNA expression by GTEx for SLC29A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC29A3 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with SLC29A3: view

Protein tissue co-expression partners for SLC29A3 Gene

Primer 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
cow
(Bos Taurus)
 Mammalia SLC29A3 35
  • 83.54 (n)
  • 79.96 (a)
-- 36
  • 81 (a)
 OneToMany
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
chimpanzee
(Pan troglodytes)
 Mammalia SLC29A3 35
  • 98.6 (n)
  • 99.16 (a)
SLC29A3 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Slc29a3 35
  • 76.63 (n)
  • 72.63 (a)
oppossum
(Monodelphis domestica)
 Mammalia SLC29A3 36
  • 67 (a)
 OneToOne
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

(2) 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
rs2277257 - 71,322,806(+) CCTAC(A/G)GAACC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs780668 - 71,351,651(-) AGGAG(A/G)AAGTG intron-variant, nc-transcript-variant, reference, missense
rs2252996 - 71,356,185(+) CCACT(A/G)TCTTC nc-transcript-variant, reference, missense
rs2487068 - 71,362,156(+) CCGCC(A/G)TCTGC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs999940 - 71,362,535(+) AGTGG(A/T)GATGT nc-transcript-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv467371 CNV Gain 19166990

Variation tolerance for SLC29A3 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.55; 98.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC29A3 Gene

Human Gene Mutation Database (HGMD)
SLC29A3

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

Disorders for SLC29A3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC29A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
histiocytosis-lymphadenopathy plus syndrome
  • faisalabad histiocytosis
dysosteosclerosis
hypertrichosis
  • hypertrichosis nos
histiocytosis
  • chronic histiocytosis x
middle ear disease
  • disorder of middle ear
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC29A3

Genetic Association Database (GAD)
SLC29A3
Human Genome Epidemiology (HuGE) Navigator
SLC29A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC29A3
genes like me logo Genes that share disorders with SLC29A3: view

No data available for Genatlas for SLC29A3 Gene

Publications for SLC29A3 Gene

  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. (PMID: 11396612) Hyde R.J. … Baldwin S.A. (Mol. Membr. Biol. 2001) 2 3 4 67
  2. 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
  3. 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 23
  4. Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome. (PMID: 24894595) Al-Haggar M. … El-Hawary A. (Pediatr Diabetes 2015) 3
  5. Genomic polymorphisms of SLC29A3 associated with overall survival in advanced non-small-cell lung cancer treated with gemcitabine. (PMID: 24535606) Chen X. … Zhou C. (Med. Oncol. 2014) 3

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