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Aliases for SLC28A1 Gene

Aliases for SLC28A1 Gene

  • Solute Carrier Family 28 Member 1 2 3 4 5
  • Solute Carrier Family 28 (Sodium-Coupled Nucleoside Transporter), Member 1 2 3
  • Solute Carrier Family 28 (Concentrative Nucleoside Transporter), Member 1 2 3
  • Sodium-Coupled Nucleoside Transporter 1 3 4
  • Concentrative Nucleoside Transporter 1 3 4
  • Na(+)/Nucleoside Cotransporter 1 3 4
  • HCNT1 3 4
  • CNT1 3 4
  • Sodium/Nucleoside Cotransporter 1 3
  • CNT 1 4

External Ids for SLC28A1 Gene

Previous GeneCards Identifiers for SLC28A1 Gene

  • GC15P081540
  • GC11M000494
  • GC15P083015
  • GC15P083157
  • GC15P083228
  • GC15P085427
  • GC15P061513

Summaries for SLC28A1 Gene

GeneCards Summary for SLC28A1 Gene

SLC28A1 (Solute Carrier Family 28 Member 1) is a Protein Coding gene. Diseases associated with SLC28A1 include Macroglobulinemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include nucleoside binding and nucleoside:sodium symporter activity. An important paralog of this gene is SLC28A2.

UniProtKB/Swiss-Prot for SLC28A1 Gene

  • Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3-azido-3-deoxythymidine (AZT) and 2,3-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine, uridine >> guanosine, inosine.

Gene Wiki entry for SLC28A1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC28A1 Gene

Genomics for SLC28A1 Gene

Regulatory Elements for SLC28A1 Gene

Enhancers for SLC28A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G084816 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -63.2 -63170 9.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B DMAP1 YY1 SLC30A9 CBX5 WDR73 ZNF592 ALPK3 NMB GOLGA6L5P ENSG00000200991 SLC28A1 GOLGA6L3 SEC11A ENSG00000259683
GH15G084845 1.1 ENCODE dbSUPER 12.1 -39.3 -39286 0.5 ELF3 HDGF FOXA2 CBX3 ARID4B RAD21 RARA YY1 IKZF2 MIXL1 NMB GOLGA6L5P SLC28A1 ALPK3 ZNF592 LINC00933 GC15P084852
GH15G084669 0.4 ENCODE 11.7 -215.0 -214998 0.3 CREB1 FOS NMB SEC11A SLC28A1 ZNF592 ALPK3 GC15M084670 GC15P084668
GH15G084910 2 FANTOM5 Ensembl ENCODE dbSUPER 2.3 +28.8 28769 5.3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 WDR73 GOLGA6L4 GOLGA6L5P GOLGA2P7 CSPG4P11 LOC103171574 LINC00933 GOLGA6L3 SLC28A1 GC15M084891
GH15G084950 0.8 FANTOM5 2.2 +65.6 65618 0.4 HDAC1 ATF1 TAL1 ZNF644 GATA2 NFE2 ZNF639 L3MBTL2 ZBTB11 NRF1 PDE8A SLC28A1 HMGB1P43 GC15P084976
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC28A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC28A1 Gene

Chromosome:
15
Start:
84,884,577 bp from pter
End:
84,975,651 bp from pter
Size:
91,075 bases
Orientation:
Plus strand

Genomic View for SLC28A1 Gene

Genes around SLC28A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC28A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC28A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC28A1 Gene

Proteins for SLC28A1 Gene

  • Protein details for SLC28A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00337-S28A1_HUMAN
    Recommended name:
    Sodium/nucleoside cotransporter 1
    Protein Accession:
    O00337
    Secondary Accessions:
    • A0AV42
    • A8K7I2
    • O00335
    • O00336
    • Q5U5S6
    • Q5U648
    • Q9UEZ9

    Protein attributes for SLC28A1 Gene

    Size:
    649 amino acids
    Molecular mass:
    71584 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC28A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC28A1 Gene

Post-translational modifications for SLC28A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC28A1 Gene

Domains & Families for SLC28A1 Gene

Gene Families for SLC28A1 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O00337

UniProtKB/Swiss-Prot:

S28A1_HUMAN :
  • Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.
Family:
  • Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.
genes like me logo Genes that share domains with SLC28A1: view

Function for SLC28A1 Gene

Molecular function for SLC28A1 Gene

GENATLAS Biochemistry:
solute carrier family 28,member A1,renal reabsorption transporter of physiological nucleosides,pyrimidines,adenosin and drugs
UniProtKB/Swiss-Prot Function:
Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3-azido-3-deoxythymidine (AZT) and 2,3-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine, uridine >> guanosine, inosine.

Gene Ontology (GO) - Molecular Function for SLC28A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity TAS 9124315
GO:0005415 nucleoside:sodium symporter activity IEA,TAS --
GO:0015389 pyrimidine- and adenine-specific:sodium symporter activity IBA --
genes like me logo Genes that share ontologies with SLC28A1: view
genes like me logo Genes that share phenotypes with SLC28A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC28A1

CRISPR Products

miRNA for SLC28A1 Gene

miRTarBase miRNAs that target SLC28A1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC28A1 Gene

Localization for SLC28A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC28A1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC28A1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC28A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane TAS,IEA 9124315
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC28A1: view

Pathways & Interactions for SLC28A1 Gene

genes like me logo Genes that share pathways with SLC28A1: view

Interacting Proteins for SLC28A1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000286749%0d%0a9606.ENSP00000356505%0d%0a
Selected Interacting proteins: ENSP00000286749 O00337-S28A1_HUMAN for SLC28A1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC28A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 9124315
GO:0006810 transport IEA --
GO:0015855 pyrimidine nucleobase transport IEA --
GO:0015858 nucleoside transport TAS 9124315
GO:0072531 pyrimidine-containing compound transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC28A1: view

No data available for SIGNOR curated interactions for SLC28A1 Gene

Drugs & Compounds for SLC28A1 Gene

(16) Drugs for SLC28A1 Gene - From: DrugBank, PharmGKB, ApexBio, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gemcitabine Approved Pharma Transporter Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2018
Stavudine Approved, Investigational Pharma Transporter 172
Zidovudine Approved Pharma Transporter 495
Gemzar Approved May 1996 Pharma 0
anthracyclines and related substances Pharma 0

(14) Additional Compounds for SLC28A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(3) ApexBio Compounds for SLC28A1 Gene

Compound Action Cas Number
Decynium 22 977-96-8
Dilazep dihydrochloride 20153-98-4
NBMPR 38048-32-7
genes like me logo Genes that share compounds with SLC28A1: view

Drug Products

Transcripts for SLC28A1 Gene

Unigene Clusters for SLC28A1 Gene

Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC28A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6: -
SP7: - -

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SLC28A1 Gene

GeneLoc Exon Structure for
SLC28A1
ECgene alternative splicing isoforms for
SLC28A1

Expression for SLC28A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC28A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC28A1 Gene

This gene is overexpressed in Liver (x31.3) and Kidney - Cortex (x15.8).

Protein differential expression in normal tissues from HIPED for SLC28A1 Gene

This gene is overexpressed in Skin (50.5) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC28A1 Gene



Protein tissue co-expression partners for SLC28A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC28A1 Gene:

SLC28A1

SOURCE GeneReport for Unigene cluster for SLC28A1 Gene:

Hs.459187

mRNA Expression by UniProt/SwissProt for SLC28A1 Gene:

O00337-S28A1_HUMAN
Tissue specificity: Expressed in kidney.

Evidence on tissue expression from TISSUES for SLC28A1 Gene

  • Kidney(4.6)
  • Intestine(4.5)
  • Liver(4.5)
genes like me logo Genes that share expression patterns with SLC28A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC28A1 Gene

Orthologs for SLC28A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC28A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC28A1 34 35
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia SLC28A1 34 35
  • 86.47 (n)
dog
(Canis familiaris)
Mammalia SLC28A1 34 35
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Slc28a1 34 16 35
  • 83.57 (n)
rat
(Rattus norvegicus)
Mammalia Slc28a1 34
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC28A1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 69 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 52 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii SLC28A2 35
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK00459 36
  • 42 (a)
CG11778 36
  • 42 (a)
CG8083 35
  • 33 (a)
ManyToMany
CNT1 35
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F27E11.1 36
  • 29 (a)
slc-28.1 35
  • 27 (a)
ManyToMany
slc-28.2 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
Species where no ortholog for SLC28A1 was found in the sources mined by GeneCards:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC28A1 Gene

ENSEMBL:
Gene Tree for SLC28A1 (if available)
TreeFam:
Gene Tree for SLC28A1 (if available)

Paralogs for SLC28A1 Gene

Paralogs for SLC28A1 Gene

(2) SIMAP similar genes for SLC28A1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC28A1: view

Variants for SLC28A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC28A1 Gene

S28A1_HUMAN-O00337
Three variant forms of isoform 1 (A, B and C) are expressed in the kidney. All three variant forms have similar nucleoside transport activity.

Sequence variations from dbSNP and Humsavar for SLC28A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000021107 -- 84,887,274(+) GTATC(A/G)GATAC intron-variant, upstream-variant-2KB
rs1000067574 -- 84,908,308(+) CCTCC(C/G)AAGTA intron-variant
rs1000068968 -- 84,900,418(+) AAAAA(-/AAAAAAAG)AAGAA intron-variant
rs1000149011 -- 84,927,425(+) ACAGA(A/G)TGTGA intron-variant
rs1000204146 -- 84,927,567(+) TACAC(G/T)CAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC28A1 Gene

Variant ID Type Subtype PubMed ID
dgv2646n100 CNV loss 25217958
dgv322n27 CNV gain 19166990
dgv4690n54 CNV gain 21841781
dgv4691n54 CNV loss 21841781
esv1010774 CNV deletion 20482838
esv1025455 CNV insertion 17803354
esv1131956 CNV deletion 17803354
esv2672879 CNV deletion 23128226
esv2673757 CNV deletion 23128226
esv2749965 CNV deletion 23290073
esv2749966 CNV deletion 23290073
esv2749967 CNV deletion 23290073
esv2760390 CNV loss 21179565
esv3552783 CNV deletion 23714750
esv3552786 CNV deletion 23714750
esv3637099 CNV gain 21293372
esv3637100 CNV loss 21293372
esv3637102 CNV loss 21293372
esv4622 CNV loss 18987735
nsv1070720 CNV deletion 25765185
nsv1116093 CNV deletion 24896259
nsv1140308 OTHER inversion 24896259
nsv457223 CNV loss 19166990
nsv471257 CNV gain 18288195
nsv519285 CNV loss 19592680
nsv524050 CNV loss 19592680
nsv525868 CNV loss 19592680
nsv570289 CNV loss 21841781
nsv570290 CNV loss 21841781
nsv94824 CNV insertion 16902084
nsv974616 CNV duplication 23825009

Variation tolerance for SLC28A1 Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.52; 98.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC28A1 Gene

Human Gene Mutation Database (HGMD)
SLC28A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC28A1

Disorders for SLC28A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC28A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
macroglobulinemia
  • waldenstrom macroglobulinemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC28A1

Genetic Association Database (GAD)
SLC28A1
Human Genome Epidemiology (HuGE) Navigator
SLC28A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC28A1
genes like me logo Genes that share disorders with SLC28A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC28A1 Gene

Publications for SLC28A1 Gene

  1. Molecular cloning and functional expression of cDNAs encoding a human Na+-nucleoside cotransporter (hCNT1). (PMID: 9124315) Ritzel M.W.L. … Young J.D. (Am. J. Physiol. 1997) 2 3 4 22 64
  2. Impact of concentrative nucleoside transporter 1 gene polymorphism on oral bioavailability of mizoribine in stable kidney transplant recipients. (PMID: 19912163) Naito T. … Kawakami J. (Basic Clin. Pharmacol. Toxicol. 2010) 3 22 46 64
  3. Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity. (PMID: 20028759) Okazaki T. … Li D. (Clin. Cancer Res. 2010) 3 22 46 64
  4. Polymorphisms in transporter and phase II metabolism genes as potential modifiers of the predisposition to and treatment outcome of de novo acute myeloid leukemia in Israeli ethnic groups. (PMID: 18207572) MA1ller P. … Rund D. (Leuk. Res. 2008) 3 22 46 64
  5. Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. (PMID: 10455109) Loewen S.K. … Young J.D. (J. Biol. Chem. 1999) 3 4 22 64

Products for SLC28A1 Gene

Sources for SLC28A1 Gene

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