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Aliases for SLC19A1 Gene

Aliases for SLC19A1 Gene

  • Solute Carrier Family 19 Member 1 2 3 4 5
  • Solute Carrier Family 19 (Folate Transporter), Member 1 2 3
  • Reduced Folate Carrier Protein 3 4
  • Placental Folate Transporter 3 4
  • Intestinal Folate Carrier 1 3 4
  • Reduced Folate Carrier 1 2 3
  • Folate Transporter 1 2 3
  • IFC-1 3 4
  • FOLT 3 4
  • RFC1 3 4
  • RFC 3 4
  • FLOT1 4
  • CHMD 3
  • IFC1 3
  • REFC 3

External Ids for SLC19A1 Gene

Previous GeneCards Identifiers for SLC19A1 Gene

  • GC21M043444
  • GC21M045779
  • GC21M045790
  • GC21M045759
  • GC21M046913
  • GC21M032311

Summaries for SLC19A1 Gene

Entrez Gene Summary for SLC19A1 Gene

  • The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

GeneCards Summary for SLC19A1 Gene

SLC19A1 (Solute Carrier Family 19 Member 1) is a Protein Coding gene. Diseases associated with SLC19A1 include Placental Choriocarcinoma and Methotrexate Toxicity Or Dose Selection. Among its related pathways are Metabolism and Vitamin digestion and absorption. GO annotations related to this gene include oxidoreductase activity and folic acid transporter activity. An important paralog of this gene is SLC19A2.

UniProtKB/Swiss-Prot for SLC19A1 Gene

  • Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump.

Gene Wiki entry for SLC19A1 Gene

PharmGKB "VIP" Summary for SLC19A1 Gene

Additional gene information for SLC19A1 Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for SLC19A1 Gene

Genomics for SLC19A1 Gene

Regulatory Elements for SLC19A1 Gene

Enhancers for SLC19A1 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
GH21H045548 2 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +10.1 10066 8 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 MCM3AP ENSG00000228137 UBE2G2 POFUT2 DIP2A ENSG00000227438 COL6A1 SLC19A1 COL6A2 MCM3AP-AS1
GH21H045532 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +28.2 28182 4 CTCF KLF1 MAX ZIC2 YY1 ZFHX2 POLR2A HNF4A ZNF600 KLF8 SLC19A1 POFUT2 GC21P045521
GH21H045517 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +44.9 44937 1 CTCF JUN CEBPG RAD21 ZNF316 POLR2A ADNP ATF7 NR2F6 TRIM24 SLC19A1 POFUT2 PIR52364 GC21P045521
GH21H045538 1.3 ENCODE dbSUPER 6.5 +21.9 21946 5 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B GLIS2 ZNF143 KLF7 SLC19A1 GC21P045521
GH21H045524 1.2 ENCODE dbSUPER 5.6 +37.7 37670 1 ELF3 TBP MLX ARID4B DMAP1 ZSCAN9 RAD21 RARA YY1 RCOR1 SLC19A1 GC21P045521
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC19A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC19A1 Gene

Chromosome:
21
Start:
45,493,572 bp from pter
End:
45,563,126 bp from pter
Size:
69,555 bases
Orientation:
Minus strand

Genomic View for SLC19A1 Gene

Genes around SLC19A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC19A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC19A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC19A1 Gene

Proteins for SLC19A1 Gene

  • Protein details for SLC19A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41440-S19A1_HUMAN
    Recommended name:
    Folate transporter 1
    Protein Accession:
    P41440
    Secondary Accessions:
    • B2R7U8
    • B7Z8C3
    • E9PFY4
    • O00553
    • O60227
    • Q13026
    • Q9BTX8

    Protein attributes for SLC19A1 Gene

    Size:
    591 amino acids
    Molecular mass:
    64868 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC19A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC19A1 Gene

Post-translational modifications for SLC19A1 Gene

No data available for DME Specific Peptides for SLC19A1 Gene

Domains & Families for SLC19A1 Gene

Gene Families for SLC19A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC19A1 Gene

Graphical View of Domain Structure for InterPro Entry

P41440

UniProtKB/Swiss-Prot:

S19A1_HUMAN :
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
Family:
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
genes like me logo Genes that share domains with SLC19A1: view

Function for SLC19A1 Gene

Molecular function for SLC19A1 Gene

GENATLAS Biochemistry:
solute carrier family 19,member A1,folate transporter,expressed in placenta,testis,with two alternative non coding exons
UniProtKB/Swiss-Prot Function:
Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump.

Phenotypes From GWAS Catalog for SLC19A1 Gene

Gene Ontology (GO) - Molecular Function for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005542 folic acid binding IBA --
GO:0008517 folic acid transporter activity IEA,TAS --
GO:0008518 reduced folate carrier activity IDA 14609557
GO:0015350 methotrexate transporter activity IBA,IEA --
genes like me logo Genes that share ontologies with SLC19A1: view
genes like me logo Genes that share phenotypes with SLC19A1: view

Animal Models for SLC19A1 Gene

MGI Knock Outs for SLC19A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC19A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for SLC19A1 (Reduced Folate Carrier/SLC19A1)

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC19A1 Gene

Localization for SLC19A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC19A1 Gene

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 SLC19A1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 10787414
genes like me logo Genes that share ontologies with SLC19A1: view

Pathways & Interactions for SLC19A1 Gene

genes like me logo Genes that share pathways with SLC19A1: view

Pathways by source for SLC19A1 Gene

Interacting Proteins for SLC19A1 Gene

Gene Ontology (GO) - Biological Process for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015884 folic acid transport IEA,ISS --
GO:0046655 folic acid metabolic process TAS --
GO:0051958 methotrexate transport IEA,IBA --
GO:0098838 reduced folate transmembrane transport IDA 14609557
genes like me logo Genes that share ontologies with SLC19A1: view

No data available for SIGNOR curated interactions for SLC19A1 Gene

Drugs & Compounds for SLC19A1 Gene

(35) Drugs for SLC19A1 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Transporter, substrate Folate antagonist,inhibits DFHR 1576
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Levomefolic acid Approved Pharma Transporter, substrate Active form of folic acid 0
Pralatrexate Approved Pharma Transporter, substrate Antifolate,a folate analog, RFC-1 targeted DHFR inhibitor 0
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2094

(26) Additional Compounds for SLC19A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC19A1: view

Transcripts for SLC19A1 Gene

Unigene Clusters for SLC19A1 Gene

Solute carrier family 19 (folate transporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC19A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for SLC19A1 (Reduced Folate Carrier/SLC19A1)

Alternative Splicing Database (ASD) splice patterns (SP) for SLC19A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: - -
SP7:
SP8: - - - -
SP9:

Relevant External Links for SLC19A1 Gene

GeneLoc Exon Structure for
SLC19A1
ECgene alternative splicing isoforms for
SLC19A1

Expression for SLC19A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC19A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC19A1 Gene

This gene is overexpressed in Whole Blood (x13.8).

Protein differential expression in normal tissues from HIPED for SLC19A1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC19A1 Gene



Protein tissue co-expression partners for SLC19A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC19A1 Gene:

SLC19A1

SOURCE GeneReport for Unigene cluster for SLC19A1 Gene:

Hs.84190

mRNA Expression by UniProt/SwissProt for SLC19A1 Gene:

P41440-S19A1_HUMAN
Tissue specificity: Placenta, liver, and to a much smaller extent, in lung.

Evidence on tissue expression from TISSUES for SLC19A1 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with SLC19A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC19A1 Gene

Orthologs for SLC19A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC19A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC19A1 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia SLC19A1 33 34
  • 82.4 (n)
cow
(Bos Taurus)
Mammalia SLC19A1 33 34
  • 79.38 (n)
rat
(Rattus norvegicus)
Mammalia Slc19a1 33
  • 73.89 (n)
mouse
(Mus musculus)
Mammalia Slc19a1 33 16 34
  • 73.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC19A1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A1 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC19A1 33 34
  • 71.76 (n)
lizard
(Anolis carolinensis)
Reptilia SLC19A1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc19a1 33
  • 60.66 (n)
zebrafish
(Danio rerio)
Actinopterygii im:7144090 33
  • 61.06 (n)
SLC19A1 34
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6574 35 34
  • 34 (a)
CG17036 35 34
  • 32 (a)
CG14694 35 34
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea folt-3 34
  • 31 (a)
ManyToMany
folt-1 34
  • 30 (a)
ManyToMany
folt-2 34
  • 30 (a)
ManyToMany
C06H2.4 35
  • 29 (a)
C50E3.11 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for SLC19A1 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)
  • wheat (Triticum aestivum)

Evolution for SLC19A1 Gene

ENSEMBL:
Gene Tree for SLC19A1 (if available)
TreeFam:
Gene Tree for SLC19A1 (if available)

Paralogs for SLC19A1 Gene

Paralogs for SLC19A1 Gene

(2) SIMAP similar genes for SLC19A1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SLC19A1: view

Variants for SLC19A1 Gene

Sequence variations from dbSNP and Humsavar for SLC19A1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs12483377 Pathogenic 45,511,195(+) CCTTT(A/G)ACGGC intron-variant, reference, missense
rs398122391 Pathogenic 45,510,091(+) GCCCC(-/CT)GTCAG intron-variant, reference, frameshift-variant
rs886037627 Pathogenic 45,504,511(+) CCCCC(-/C)GGCCC intron-variant, reference, frameshift-variant
rs886041437 Pathogenic 45,505,244(+) CCCCC(AG/C)GGCCC intron-variant, reference, frameshift-variant
rs1057518766 Likely pathogenic 45,505,372(+) TTCCC(A/G)GCCCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC19A1 Gene

Variant ID Type Subtype PubMed ID
dgv2410n106 CNV deletion 24896259
dgv4436n100 CNV gain 25217958
dgv4437n100 CNV gain 25217958
dgv4438n100 CNV gain 25217958
dgv7903n54 CNV loss 21841781
dgv7904n54 CNV loss 21841781
esv1055733 CNV insertion 17803354
esv2723788 CNV deletion 23290073
esv2723789 CNV deletion 23290073
esv2723790 CNV deletion 23290073
esv2723791 CNV deletion 23290073
esv2723792 CNV deletion 23290073
esv2723793 CNV deletion 23290073
esv2762114 CNV gain 21179565
esv3451181 CNV duplication 20981092
esv3893419 CNV gain 25118596
esv3893420 CNV loss 25118596
nsv1067390 CNV loss 25217958
nsv187444 CNV deletion 16902084
nsv3542 CNV insertion 18451855
nsv459308 CNV loss 19166990
nsv516407 CNV loss 19592680
nsv587851 CNV loss 21841781
nsv587853 CNV loss 21841781
nsv587855 CNV loss 21841781
nsv587856 CNV loss 21841781
nsv587862 CNV loss 21841781
nsv834111 CNV loss 17160897
nsv834112 CNV gain 17160897
nsv953653 CNV deletion 24416366

Variation tolerance for SLC19A1 Gene

Residual Variation Intolerance Score: 55.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC19A1 Gene

Human Gene Mutation Database (HGMD)
SLC19A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC19A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC19A1 Gene

Disorders for SLC19A1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC19A1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
placental choriocarcinoma
  • choriocarcinoma of the placenta
methotrexate toxicity or dose selection
pediatric osteosarcoma
  • childhood osteosarcoma
thiamine-responsive megaloblastic anemia syndrome
  • rogers syndrome
choriocarcinoma
  • chorioepithelioma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC19A1

Genetic Association Database (GAD)
SLC19A1
Human Genome Epidemiology (HuGE) Navigator
SLC19A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC19A1
genes like me logo Genes that share disorders with SLC19A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC19A1 Gene

Publications for SLC19A1 Gene

  1. The SLC19A1 80G>A polymorphism is not associated with male infertility. (PMID: 20233025) Kurzawski M … Drozdzik M (Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2010) 3 22 45 60
  2. The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. (PMID: 19650776) Stanisławska-Sachadyn A … Whitehead AS (Annals of human genetics 2009) 3 22 45 60
  3. Common polymorphisms in the folate pathway predict efficacy of combination regimens containing methotrexate and sulfasalazine in early rheumatoid arthritis. (PMID: 18322994) James HM … Proudman SM (The Journal of rheumatology 2008) 3 22 45 60
  4. Transcription regulatory polymorphism -43T>C in the 5'-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy. (PMID: 17404734) Chatzikyriakidou A … Drosos AA (Rheumatology international 2007) 3 22 45 60
  5. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. (PMID: 17035141) Boyles AL … NTD Collaborative Group (Environmental health perspectives 2006) 3 22 45 60

Products for SLC19A1 Gene

Sources for SLC19A1 Gene

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