Aliases for SLC28A1 Gene

Aliases for SLC28A1 Gene

  • Solute Carrier Family 28 Member 1 2 3 4 5
  • CNT1 2 3 4
  • 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
  • Sodium/Nucleoside Cotransporter 1 3 4
  • Na(+)/Nucleoside Cotransporter 1 3 4
  • HCNT1 3 4
  • SLC28A1 5
  • URCTU 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 Uridine-Cytidineuria. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (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 Summary for SLC28A1 Gene

  • Sodium-dependent and pyrimidine-selective transporter (PubMed:21998139). Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). Transports uridine, cytidine, thymidine, and nucleoside-derived drugs (PubMed:21998139). 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 , Rfam classification and piRNA Summary for SLC28A1 Gene

Genomics for SLC28A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC28A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J084884 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 +2.3 2279 5.7 ATF2 ATF3 YY1 MXD4 HOMEZ FOXA2 KDM6A MAFF SMAD4 RXRA HSALNG0107836 SLC28A1 NMB LINC00933 GOLGA6L4 GOLGA6L5P GOLGA6L3 ZNF592 ZSCAN2 ENSG00000286505
GH15J084883 Enhancer 0.6 ENCODE 250.7 -0.7 -685 0.2 ATF2 ATF3 YY1 FOXA2 TEAD3 JUND PKNOX1 RAD21 NFYC SP1 SLC28A1 HSALNG0107835 ALPK3
GH15J084816 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -62.9 -62942 9.6 IKZF1 MYC ZNF592 ATF3 POLR2A ZIC2 YY1 MXD4 REST MNT WDR73 ZNF592 ALPK3 NMB GOLGA6L5P ENSG00000200991 SLC28A1 GOLGA6L3 SEC11A ENSG00000259683
GH15J084845 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 -38.8 -38800 1 ZNF580 CHD4 YY1 ZNF217 REST CTCF DEK TRIM22 ZNF341 FOXA2 NMB GOLGA6L5P SLC28A1 ALPK3 ZNF592 SEC11A LINC00933 ENSG00000200991
GH15J084669 Enhancer 0.6 Ensembl ENCODE 11.7 -214.7 -214749 0.4 CREB1 NFE2L2 FOS lnc-ZSCAN2-9 NMB SEC11A SLC28A1 ZNF592 ALPK3 lnc-NMB-1 piR-43583-184
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC28A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC28A1

Top Transcription factor binding sites by QIAGEN in the SLC28A1 gene promoter:
  • AREB6
  • Bach1
  • CREB
  • HTF
  • Ik-3
  • ITF-2
  • LCR-F1
  • MZF-1
  • Tal-1beta
  • Zic1

Genomic Locations for SLC28A1 Gene

Latest Assembly
chr15:84,884,350-84,975,649
(GRCh38/hg38)
Size:
91,300 bases
Orientation:
Plus strand

Previous Assembly
chr15:85,427,893-85,518,880
(GRCh37/hg19 by Entrez Gene)
Size:
90,988 bases
Orientation:
Plus strand

chr15:85,427,885-85,518,876
(GRCh37/hg19 by Ensembl)
Size:
90,992 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

  • Glycosylation at Asn605 and Asn643
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC28A1 Gene

Domains & Families for SLC28A1 Gene

Gene Families for SLC28A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC28A1 Gene

InterPro:
Blocks:
  • Na+ dependent nucleoside transporter
  • Nucleoside recognition

Suggested Antigen Peptide Sequences for SLC28A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58165, highly similar to Sodium/nucleoside cotransporter 1 (B7Z3L6_HUMAN)
  • cDNA FLJ51869, highly similar to Sodium/nucleoside cotransporter 1 (B7Z3M4_HUMAN)
  • cDNA FLJ56538, highly similar to Sodium/nucleoside cotransporter 1 (B7Z533_HUMAN)
  • Solute carrier family 28 member 1 (S28A1_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Sodium-dependent and pyrimidine-selective transporter (PubMed:21998139). Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). Transports uridine, cytidine, thymidine, and nucleoside-derived drugs (PubMed:21998139). 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.
GENATLAS Biochemistry:
solute carrier family 28,member A1,renal reabsorption transporter of physiological nucleosides,pyrimidines,adenosin and drugs

Phenotypes From GWAS Catalog for SLC28A1 Gene

Gene Ontology (GO) - Molecular Function for SLC28A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity TAS,IBA 21873635
GO:0005345 purine nucleobase transmembrane transporter activity NAS 22492015
GO:0005415 nucleoside:sodium symporter activity TAS --
GO:0015212 cytidine transmembrane transporter activity TAS 22813716
GO:0015213 uridine transmembrane transporter activity IDA 21998139
genes like me logo Genes that share ontologies with SLC28A1: view
genes like me logo Genes that share phenotypes with SLC28A1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC28A1

miRNA for SLC28A1 Gene

miRTarBase miRNAs that target SLC28A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC28A1

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 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC28A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane TAS 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

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:0015855 pyrimidine nucleobase transport IBA 21873635
GO:0015858 nucleoside transport TAS 9124315
GO:0015861 cytidine transport TAS 22813716
GO:0015862 uridine transport IDA 21998139
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

(20) Drugs for SLC28A1 Gene - From: DrugBank, PharmGKB, ApexBio, 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 2590
Stavudine Approved, Investigational Pharma Transporter 171
Zidovudine Approved Pharma Transporter 506
Adenosine Approved, Investigational Pharma Transporter, substrate 664
Decitabine Approved, Investigational Pharma Transporter, substrate DNA methyltransferase inhibitor 416

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
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 for research

Transcripts for SLC28A1 Gene

mRNA/cDNA for SLC28A1 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC28A1

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

Expression for SLC28A1 Gene

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



Protein tissue co-expression partners for SLC28A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.5)
  • Intestine(4.5)
genes like me logo Genes that share expression patterns with SLC28A1: view

Primer products for research

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 29 30
  • 99.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC28A1 29 30
  • 86.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC28A1 29 30
  • 85.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc28a1 29 16 30
  • 83.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc28a1 29
  • 83.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC28A1 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
ManyToMany
-- 30
  • 64 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 52 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii SLC28A2 30
  • 51 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta BEST:CK00459 31
  • 42 (a)
CG11778 31
  • 42 (a)
CG8083 30
  • 33 (a)
ManyToMany
CNT1 30
  • 32 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F27E11.1 31
  • 29 (a)
slc-28.1 30
  • 27 (a)
ManyToMany
slc-28.2 30
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
ManyToMany
-- 30
  • 45 (a)
ManyToMany
Species where no ortholog for SLC28A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC28A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC28A1

Paralogs for SLC28A1 Gene

Paralogs for SLC28A1 Gene

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

  • S28A1_HUMAN
  • B7Z3L6_HUMAN
  • B7Z3M4_HUMAN
  • B7Z533_HUMAN
  • F5H560_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC28A1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs139484056 Uncertain Significance: Severe Myopia 84,924,040(+) T/C
NM_004213.5(SLC28A1):c.1013T>C (p.Val338Ala)
MISSENSE
rs149246522 Affects: Uridine-cytidineuria 84,944,584(+) G/A
NM_004213.5(SLC28A1):c.1682G>A (p.Arg561Gln)
MISSENSE_VARIANT,INTRON
rs2242047 Affects: Uridine-cytidineuria. Uridine-cytidineuria (URCTU) [MIM:618477] 84,935,465(+) C/Tp.Arg510Cys
NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys)
MISSENSE_VARIANT,INTRON
rs45584739 Affects: Uridine-cytidineuria. Uridine-cytidineuria (URCTU) [MIM:618477] 84,943,499(+) T/Cp.Ser546Pro
NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro)
MISSENSE_VARIANT,INTRON
rs8187737 Benign: not provided 84,887,769(+) C/T
NM_004213.5(SLC28A1):c.9C>T (p.Asn3=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC28A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SLC28A1 Gene

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

SNP Genotyping and Copy Number Assays for research

Disorders for SLC28A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC28A1 Gene - From: OMI, SWI, and GCD

Disorder Aliases PubMed IDs
uridine-cytidineuria
  • urctu
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S28A1_HUMAN
  • Uridine-cytidineuria (URCTU) [MIM:618477]: An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations. {ECO:0000269 PubMed:21998139, ECO:0000269 PubMed:30658162, ECO:0000269 PubMed:30847922}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC28A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC28A1: view

No data available for 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 MW … Young JD (The American journal of physiology 1997) 2 3 4 22
  2. Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity. (PMID: 20028759) Okazaki T … Li D (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 22 40
  3. 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 & clinical pharmacology & toxicology 2010) 3 22 40
  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) Müller P … Rund D (Leukemia research 2008) 3 22 40
  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 SK … Young JD (The Journal of biological chemistry 1999) 3 4 22

Products for SLC28A1 Gene

  • Biorbyt antibodies for SLC28A1

Sources for SLC28A1 Gene