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Aliases for SLC29A4 Gene

Aliases for SLC29A4 Gene

  • Solute Carrier Family 29 Member 4 2 3 4
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 4 2 3 5
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 4 2 3
  • Plasma Membrane Monoamine Transporter 3 4
  • ENT4 3 4
  • PMAT 3 4
  • HENT4 4

External Ids for SLC29A4 Gene

Previous GeneCards Identifiers for SLC29A4 Gene

  • GC07P005032
  • GC07P005066
  • GC07P005095

Summaries for SLC29A4 Gene

Entrez Gene Summary for SLC29A4 Gene

  • This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for SLC29A4 Gene

SLC29A4 (Solute Carrier Family 29 Member 4) is a Protein Coding gene. Diseases associated with SLC29A4 include desmoplastic small round cell tumor. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of vitamins, nucleosides, and related molecules. GO annotations related to this gene include monoamine transmembrane transporter activity and nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A3.

UniProtKB/Swiss-Prot for SLC29A4 Gene

  • Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.

Tocris Summary for SLC29A4 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.

Gene Wiki entry for SLC29A4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC29A4 Gene

Genomics for SLC29A4 Gene

Regulatory Elements for SLC29A4 Gene

Genomic Location for SLC29A4 Gene

Chromosome:
7
Start:
5,274,369 bp from pter
End:
5,306,870 bp from pter
Size:
32,502 bases
Orientation:
Plus strand

Genomic View for SLC29A4 Gene

Genes around SLC29A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A4 Gene

Proteins for SLC29A4 Gene

  • Protein details for SLC29A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTT9-S29A4_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 4
    Protein Accession:
    Q7RTT9
    Secondary Accessions:
    • Q6PJ08
    • Q86WY8
    • Q8NAR3
    • Q8NBM2

    Protein attributes for SLC29A4 Gene

    Size:
    530 amino acids
    Molecular mass:
    58059 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11612.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC29A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A4 Gene

Proteomics data for SLC29A4 Gene at MOPED

Post-translational modifications for SLC29A4 Gene

Other Protein References for SLC29A4 Gene

No data available for DME Specific Peptides for SLC29A4 Gene

Domains & Families for SLC29A4 Gene

Gene Families for SLC29A4 Gene

Suggested Antigen Peptide Sequences for SLC29A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTT9

UniProtKB/Swiss-Prot:

S29A4_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 SLC29A4: view

Function for SLC29A4 Gene

Molecular function for SLC29A4 Gene

UniProtKB/Swiss-Prot Function:
Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.

Gene Ontology (GO) - Molecular Function for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008504 monoamine transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC29A4: view
genes like me logo Genes that share phenotypes with SLC29A4: view

Animal Models for SLC29A4 Gene

MGI Knock Outs for SLC29A4:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC29A4 Gene

Localization for SLC29A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A4 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Note=Located to the plasma membranes of ventricular myocytes and vascular endothelial cells. Targeted to the apical membranes of differentiated kidney epithelial cells. {ECO:0000269 PubMed:15448143, ECO:0000269 PubMed:16873718}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC29A4 Gene COMPARTMENTS Subcellular localization image for SLC29A4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
peroxisome 2
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC29A4: view

Pathways & Interactions for SLC29A4 Gene

genes like me logo Genes that share pathways with SLC29A4: view

Interacting Proteins for SLC29A4 Gene

Gene Ontology (GO) - Biological Process for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015844 monoamine transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC29A4: view

No data available for SIGNOR curated interactions for SLC29A4 Gene

Drugs & Compounds for SLC29A4 Gene

(13) Drugs for SLC29A4 Gene - From: DrugBank, HMDB, IUPHAR, DGIdb, Novoseek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cimetidine Approved Pharma Inhibition, Inhibitor, antagonist H2 receptor antagonist, H2 antagonist, I1 agonist 67
Quinidine Approved Pharma Pore Blocker, blocker 41
Quinine Approved Pharma Pore Blocker, blocker 41
Verapamil Approved Pharma Channel blocker, blocker 117
Metformin Approved Pharma Transporter, substrate AMP-activated protein kinase (AMPK) activator 1645

(6) Additional Compounds for SLC29A4 Gene - From: Tocris, HMDB, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
Dilazep dihydrochloride
20153-98-4
NBMPR
38048-32-7

(5) Tocris Compounds for SLC29A4 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 SLC29A4: view

Transcripts for SLC29A4 Gene

Unigene Clusters for SLC29A4 Gene

Solute carrier family 29 (nucleoside transporters), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6: -
SP7:

Relevant External Links for SLC29A4 Gene

GeneLoc Exon Structure for
SLC29A4
ECgene alternative splicing isoforms for
SLC29A4

Expression for SLC29A4 Gene

mRNA expression in normal human tissues for SLC29A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC29A4 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC29A4 Gene



SOURCE GeneReport for Unigene cluster for SLC29A4 Gene Hs.4302

mRNA Expression by UniProt/SwissProt for SLC29A4 Gene

Q7RTT9-S29A4_HUMAN
Tissue specificity: Expressed abundantly in the heart, in both cardiomyocytes and vascular endothelial cells (at protein level). Highly expressed in brain, kidney and skeletal muscle. In the brain expressed in cerebellum, cerebral cortex, medulla, occipital pole, frontal and temporal lobes putamen and in the spinal cord. Lower expression in liver, pancreas, and liver. Expressed in endometrial tissue, exclusively in the stroma. Expression is high in the proliferative phase, decreases during the secretory phase, and is no longer detectable in the menstrual phase.
genes like me logo Genes that share expression patterns with SLC29A4: view

Protein tissue co-expression partners for SLC29A4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SLC29A4 Gene

Orthologs for SLC29A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC29A4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC29A4 35
  • 87.15 (n)
  • 87.98 (a)
SLC29A4 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC29A4 35
  • 87.92 (n)
  • 88.76 (a)
SLC29A4 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc29a4 35
  • 84.7 (n)
  • 88.53 (a)
Slc29a4 16
Slc29a4 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc29a4 35
  • 84.55 (n)
  • 88.27 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC29A4 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC29A4 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC29A4 35
  • 76.59 (n)
  • 73.85 (a)
SLC29A4 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC29A4 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc29a4 35
  • 68.63 (n)
  • 68.57 (a)
slc29a4 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011796 35
  • 55.93 (n)
  • 45.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ent3 35
  • 51.56 (n)
  • 42.13 (a)
Ent3 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ent-7 36
  • 18 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ENT1 35
  • 43.66 (n)
  • 33.25 (a)
rice
(Oryza sativa)
Liliopsida Os08g0205200 35
  • 46.01 (n)
  • 30.99 (a)
Species with no ortholog for SLC29A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC29A4 Gene

ENSEMBL:
Gene Tree for SLC29A4 (if available)
TreeFam:
Gene Tree for SLC29A4 (if available)

Paralogs for SLC29A4 Gene

Paralogs for SLC29A4 Gene

Pseudogenes.org Pseudogenes for SLC29A4 Gene

genes like me logo Genes that share paralogs with SLC29A4: view

Variants for SLC29A4 Gene

Sequence variations from dbSNP and Humsavar for SLC29A4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs17854505 - 5,290,798(+) TGGCG(A/T)GGGCT reference, missense, utr-variant-5-prime
rs17855675 - 5,291,194(+) AACAA(A/C/T)GTCCT reference, synonymous-codon, missense, utr-variant-5-prime
rs17857336 - 5,300,497(+) TCATC(A/C/T)CCCTC reference, missense
rs1105108 -- 5,275,783(+) CCTCC(C/G)TGTTC intron-variant
rs1258480 -- 5,274,009(-) TCCAC(C/T)GTGAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SLC29A4 Gene

Variant ID Type Subtype PubMed ID
nsv436904 CNV Insertion 17901297
nsv887390 CNV Loss 21882294
nsv887391 CNV Loss 21882294
nsv830889 CNV Loss 17160897
nsv8034 CNV Gain 18304495
nsv887392 CNV Loss 21882294
nsv823996 CNV Gain 20364138
dgv7138n71 CNV Loss 21882294
dgv7139n71 CNV Loss 21882294
nsv887396 CNV Loss 21882294
esv2675005 CNV Deletion 23128226
esv2733908 CNV Deletion 23290073
esv2733909 CNV Deletion 23290073
esv991341 CNV Deletion 20482838
nsv366287 CNV Loss 16902084

Variation tolerance for SLC29A4 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC29A4 Gene

HapMap Linkage Disequilibrium report
SLC29A4
Human Gene Mutation Database (HGMD)
SLC29A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A4 Gene

Disorders for SLC29A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC29A4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
desmoplastic small round cell tumor
  • desmoplastic small round-cell tumor
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC29A4

Genetic Association Database (GAD)
SLC29A4
Human Genome Epidemiology (HuGE) Navigator
SLC29A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC29A4
genes like me logo Genes that share disorders with SLC29A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC29A4 Gene

Publications for SLC29A4 Gene

  1. Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. (PMID: 17121826) Zhou M. … Wang J. (J. Biol. Chem. 2007) 3 4 23 67
  2. The equilibrative nucleoside transporter family, SLC29. (PMID: 12838422) Baldwin S.A. … Young J.D. (Pflugers Arch. 2004) 2 3 23
  3. Podocyte-specific expression of organic cation transporter PMAT: implication in puromycin aminonucleoside nephrotoxicity. (PMID: 19357181) Xia L. … Wang J. (Am. J. Physiol. Renal Physiol. 2009) 3 23
  4. Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor. (PMID: 18523561) Li H. … Lee S.B. (PLoS ONE 2008) 3 23
  5. Membrane localization and pH-dependent transport of a newly cloned organic cation transporter (PMAT) in kidney cells. (PMID: 17018840) Xia L. … Wang J. (Am. J. Physiol. 2007) 3 23

Products for SLC29A4 Gene

Sources for SLC29A4 Gene

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