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Aliases for SLC19A1 Gene

Aliases for SLC19A1 Gene

  • Solute Carrier Family 19 Member 1 2 3 4
  • Solute Carrier Family 19 (Folate Transporter), Member 1 2 3 5
  • Reduced Folate Carrier Protein 3 4
  • Placental Folate Transporter 3 4
  • Intestinal Folate Carrier 1 3 4
  • 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 of water-soluble vitamins and cofactors 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

No data available for 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 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 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

Proteomics data for SLC19A1 Gene at MOPED

Post-translational modifications for SLC19A1 Gene

Antibody Products

  • R&D Systems Antibodies for SLC19A1 (Reduced Folate Carrier/SLC19A1)

No data available for DME Specific Peptides for SLC19A1 Gene

Domains & Families for SLC19A1 Gene

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.
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SLC19A1 Gene COMPARTMENTS Subcellular localization image for SLC19A1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0031526 brush border membrane IEA --
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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000308895%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000308895 for SLC19A1 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006810 transport IEA --
GO:0007565 female pregnancy IEA --
GO:0015884 folic acid transport IEA,ISS --
GO:0046655 folic acid metabolic process TAS --
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

(37) 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, Cytotoxic agent 1466
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
leucovorin Approved Pharma 1029
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 1910

(25) 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

Flow Cytometry Products

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 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, MOPED, and MaxQB for SLC19A1 Gene



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.
genes like me logo Genes that share expression patterns with SLC19A1: view

Protein tissue co-expression partners for SLC19A1 Gene

Primer Products

Orthologs for SLC19A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC19A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC19A1 35
  • 79.38 (n)
  • 73.49 (a)
SLC19A1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC19A1 35
  • 82.4 (n)
  • 76.28 (a)
SLC19A1 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc19a1 35
  • 73.87 (n)
  • 68.69 (a)
Slc19a1 16
Slc19a1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC19A1 35
  • 99.15 (n)
  • 99.15 (a)
SLC19A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a1 35
  • 73.89 (n)
  • 67.2 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC19A1 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC19A1 35
  • 71.76 (n)
  • 64.95 (a)
SLC19A1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC19A1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc19a1 35
  • 60.66 (n)
  • 62.64 (a)
zebrafish
(Danio rerio)
Actinopterygii im:7144090 35
  • 61.06 (n)
  • 61.36 (a)
SLC19A1 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14694 37
  • 30 (a)
CG17036 37
  • 32 (a)
CG6574 37
  • 34 (a)
CG14694 36
  • 29 (a)
ManyToMany
CG17036 36
  • 31 (a)
ManyToMany
CG6574 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C06H2.4 37
  • 29 (a)
C50E3.11 37
  • 28 (a)
folt-1 36
  • 30 (a)
ManyToMany
folt-2 36
  • 30 (a)
ManyToMany
folt-3 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for SLC19A1:
  • 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
rs1051266 - 45,537,880(-) GCGGC(A/G)CCTCG intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs35786590 - 45,515,761(-) TGAGG(C/T)TGCAG intron-variant, reference, missense
rs1078884 -- 45,560,083(+) GCCAG(A/G)TGTGG intron-variant
rs1131596 -- 45,538,002(-) CACAG(A/C/G/T)GTCAC intron-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs2249777 -- 45,562,189(+) TTCCT(C/T)TTAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4785n71 CNV Loss 21882294
nsv914027 CNV Loss 21882294
dgv4791n71 CNV Loss 21882294
dgv4793n71 CNV Loss 21882294
nsv516407 CNV Loss 19592680
nsv914048 CNV Loss 21882294
nsv834111 CNV Loss 17160897
dgv4795n71 CNV Loss 21882294
dgv4797n71 CNV Loss 21882294
dgv4798n71 CNV Loss 21882294
nsv914060 CNV Loss 21882294
nsv914061 CNV Gain 21882294
dgv4799n71 CNV Loss 21882294
dgv4800n71 CNV Loss 21882294
nsv914066 CNV Gain 21882294
nsv459308 CNV Loss 19166990
dgv4801n71 CNV Loss 21882294
nsv834112 CNV Gain 17160897
nsv914071 CNV Loss 21882294
dgv4802n71 CNV Loss 21882294
dgv4803n71 CNV Loss 21882294
esv2723788 CNV Deletion 23290073
nsv914076 CNV Loss 21882294
esv2723789 CNV Deletion 23290073
esv2723790 CNV Deletion 23290073
esv2723791 CNV Deletion 23290073
nsv187444 CNV Loss 16902084
esv2723792 CNV Deletion 23290073
esv2723793 CNV Deletion 23290073
esv1055733 CNV Insertion 17803354
nsv3542 CNV Insertion 18451855

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

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: 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
  • choriocarcinoma, no icd-o subtype
- 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. Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate- resistant human breast cancer cells. (PMID: 7641195) Moscow J.A. … Cowan K.H. (Cancer Res. 1995) 3 4 23 67
  2. The SLC19A1 80G>A polymorphism is not associated with male infertility. (PMID: 20233025) Kurzawski M. … Drozdzik M. (Biomarkers 2010) 3 23
  3. Mice transgenic for reduced folate carrier: an animal model of Down syndrome? (PMID: 18414976) HAPger J. … Lubec G. (Amino Acids 2009) 3 23
  4. Oligomeric structure of the human reduced folate carrier: identification of homo-oligomers and dominant-negative effects on carrier expression and function. (PMID: 19019821) Hou Z. … Matherly L.H. (J. Biol. Chem. 2009) 3 23
  5. Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia. (PMID: 19020309) de Jonge R. … Pieters R. (Blood 2009) 3 23

Products for SLC19A1 Gene

Sources for SLC19A1 Gene

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