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] See more...

Aliases for SLC19A1 Gene

Aliases for SLC19A1 Gene

  • Solute Carrier Family 19 Member 1 2 3 4 5
  • FOLT 2 3 4
  • RFC1 2 3 4
  • Solute Carrier Family 19 (Folate Transporter), Member 1 2 3
  • Reduced Folate Carrier Protein 3 4
  • Placental Folate Transporter 3 4
  • Reduced Folate Transporter 1 3 4
  • Intestinal Folate Carrier 1 3 4
  • Reduced Folate Transporter 3 4
  • Reduced Folate Carrier 1 2 3
  • Folate Transporter 1 2 3
  • HSLC19A1 3 4
  • IFC-1 3 4
  • RFT-1 3 4
  • HRFC 3 4
  • RFC 3 4
  • SLC19A1 5
  • 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 Knobloch Syndrome and Knobloch Syndrome 1. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and folic acid transmembrane transporter activity. An important paralog of this gene is SLC19A2.

UniProtKB/Swiss-Prot Summary for SLC19A1 Gene

  • Transporter that mediates the import of reduced folates and a subset of cyclic dinucleotides (PubMed:7826387, PubMed:9041240, PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:31126740, PubMed:31511694). Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate (PubMed:10787414, PubMed:14609557, PubMed:22554803). Also able to mediate the import of antifolate drug methotrexate (PubMed:7615551, PubMed:7641195, PubMed:9767079, PubMed:22554803). Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP (PubMed:31126740, PubMed:31511694). Mechanistically, acts as an antiporter, which export of intracellular organic anions to facilitate uptake of its substrates (PubMed:22554803, PubMed:31126740, PubMed:31511694). 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed:22554803).

Gene Wiki entry for SLC19A1 Gene

PharmGKB "VIP" Summary for SLC19A1 Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for SLC19A1 Gene

Genomics for SLC19A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC19A1 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
GH21J045538 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.5 +32.2 32185 5.8 SP1 ZNF600 MYC SIX5 KLF9 ZIC2 NFIC ZBTB10 MXD4 NONO SLC19A1 lnc-POFUT2-7 lnc-SLC19A1-12 COL18A1
GH21J045545 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.3 +28.9 28943 0.1 ZNF341 KLF1 IKZF1 SLC19A1 lnc-POFUT2-7 lnc-SLC19A1-12 COL18A1
GH21J045573 Enhancer 0.6 Ensembl ENCODE CraniofacialAtlas 250.7 -1.0 -1036 1.6 GLIS1 HSALNG0133659 SLC19A1 PCBP3 piR-48325-112
GH21J045563 Promoter 0.5 EPDnew 250.4 +10.3 10320 0.1 CBX2 ZNF544 HSALNG0133658 SLC19A1 PCBP3 PCBP3-AS1 MCM3AP-AS1 piR-38580-190 COL18A1
GH21J045574 Enhancer 0.2 Ensembl 250.7 +0.1 64 0.2 HSALNG0133659 SLC19A1 PCBP3 COL18A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC19A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC19A1

Top Transcription factor binding sites by QIAGEN in the SLC19A1 gene promoter:
  • ARP-1
  • ATF-2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HEN1
  • MyoD
  • Pax-3
  • Roaz

Genomic Locations for SLC19A1 Gene

Latest Assembly
chr21:45,493,572-45,573,365
(GRCh38/hg38)
Size:
79,794 bases
Orientation:
Minus strand

Previous Assembly
chr21:46,932,461-46,982,939
(GRCh37/hg19 by Entrez Gene)
Size:
50,479 bases
Orientation:
Minus strand

chr21:46,913,486-46,964,325
(GRCh37/hg19 by Ensembl)
Size:
50,840 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:
    Reduced folate transporter
    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
    SequenceCaution:
    • Sequence=CAB90483.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC19A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC19A1 Gene

Post-translational modifications for SLC19A1 Gene

  • Glycosylation at Asn58
  • Ubiquitination at Lys237 and Lys479
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC19A1 Gene

Domains & Families for SLC19A1 Gene

Gene Families for SLC19A1 Gene

Protein Domains for SLC19A1 Gene

InterPro:
Blocks:
  • Reduced folate carrier

Suggested Antigen Peptide Sequences for SLC19A1 Gene

GenScript: Design optimal peptide antigens:
  • SLC19A1 protein (A2VCN1_HUMAN)
  • cDNA FLJ53257, highly similar to Folate transporter 1 (B7Z8C3_HUMAN)
  • Solute carrier family 19 (Folate transporter), member 1, isoform CRA_f (D3DSM6_HUMAN)
  • Solute carrier family 19 member 1 (S19A1_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Transporter that mediates the import of reduced folates and a subset of cyclic dinucleotides (PubMed:7826387, PubMed:9041240, PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:31126740, PubMed:31511694). Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate (PubMed:10787414, PubMed:14609557, PubMed:22554803). Also able to mediate the import of antifolate drug methotrexate (PubMed:7615551, PubMed:7641195, PubMed:9767079, PubMed:22554803). Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP (PubMed:31126740, PubMed:31511694). Mechanistically, acts as an antiporter, which export of intracellular organic anions to facilitate uptake of its substrates (PubMed:22554803, PubMed:31126740, PubMed:31511694). 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed:22554803).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-5-methyl-5,6,7,8-tetrahydrofolate(out) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(in) = (6S)-5-methyl-5,6,7,8-tetrahydrofolate(in) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(out); Xref=Rhea:RHEA:60460, ChEBI:CHEBI:18608, ChEBI:CHEBI:58475; Evidence={ECO:0000269|PubMed:14609557, ECO:0000269|PubMed:22554803};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2',3'-cGAMP(out) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(in) = 2',3'-cGAMP(in) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(out); Xref=Rhea:RHEA:60464, ChEBI:CHEBI:58475, ChEBI:CHEBI:143093; Evidence={ECO:0000269|PubMed:31126740, ECO:0000305|PubMed:31511694};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',3'-cGAMP(out) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(in) = 3',3'-cGAMP(in) + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide(out); Xref=Rhea:RHEA:60468, ChEBI:CHEBI:58475, ChEBI:CHEBI:71501; Evidence={ECO:0000269|PubMed:31126740};.
GENATLAS Biochemistry:
solute carrier family 19,member A1,folate transporter,expressed in placenta,testis,with two alternative non coding exons

Phenotypes From GWAS Catalog for SLC19A1 Gene

Gene Ontology (GO) - Molecular Function for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0005542 folic acid binding IBA 21873635
GO:0008514 organic anion transmembrane transporter activity ISS --
GO:0008517 folic acid transmembrane transporter activity TAS --
GO:0008518 folate:anion antiporter activity IEA,IDA 14609557
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:

Inhibitory RNAs for research

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

Cell membrane. Multi-pass membrane protein. Apical cell membrane. Multi-pass membrane protein. Basolateral 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 SLC19A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 ISS --
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

SIGNOR curated interactions for SLC19A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007565 female pregnancy IEA --
GO:0015711 organic anion transport ISS --
GO:0015884 folic acid transport IEA,ISS --
GO:0035461 vitamin transmembrane transport IEA --
GO:0046655 folic acid metabolic process TAS --
genes like me logo Genes that share ontologies with SLC19A1: view

Drugs & Compounds for SLC19A1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Transporter, substrate Folate antagonist,inhibits DFHR 1884
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3624
Trimetrexate Approved, Investigational Pharma Transporter, substrate 17
Levomefolic acid Approved, Investigational Pharma Transporter, substrate 0
Nitazoxanide Approved, Investigational, Vet_approved Pharma Carrier 86

(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

mRNA/cDNA for SLC19A1 Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 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 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

Expression for SLC19A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC19A1 Gene



Protein tissue co-expression partners for SLC19A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.4)
  • Intestine(4.4)
  • Blood(2.4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with SLC19A1: view

Primer products for research

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 29 30
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC19A1 29 30
  • 82.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC19A1 29 30
  • 79.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc19a1 29
  • 73.89 (n)
Mouse
(Mus musculus)
Mammalia Slc19a1 29 16 30
  • 73.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC19A1 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A1 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC19A1 29 30
  • 71.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC19A1 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc19a1 29
  • 60.66 (n)
Zebrafish
(Danio rerio)
Actinopterygii im:7144090 29
  • 61.06 (n)
SLC19A1 30
  • 52 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6574 30 31
  • 33 (a)
ManyToMany
CG17036 30 31
  • 31 (a)
ManyToMany
CG14694 30 31
  • 29 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea folt-3 30
  • 31 (a)
ManyToMany
folt-2 30
  • 30 (a)
ManyToMany
folt-1 30
  • 30 (a)
ManyToMany
C06H2.4 31
  • 29 (a)
C50E3.11 31
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for SLC19A1 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)
  • Wheat (Triticum aestivum)

Evolution for SLC19A1 Gene

ENSEMBL:
Gene Tree for SLC19A1 (if available)
TreeFam:
Gene Tree for SLC19A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC19A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC19A1

Paralogs for SLC19A1 Gene

Paralogs for SLC19A1 Gene

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

  • S19A1_HUMAN
  • A2VCN1_HUMAN
  • C9J8K6_HUMAN
  • C9JKP4_HUMAN
  • D3DSM6_HUMAN
  • E9PIL5_HUMAN
  • H0Y4T2_HUMAN
  • H3BTQ3_HUMAN
genes like me logo Genes that share paralogs with SLC19A1: view

Variants for SLC19A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC19A1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1001448 Uncertain Significance: not provided 45,504,507(-) C/G
NM_001379500.1(COL18A1):c.2819C>G (p.Pro940Arg)
MISSENSE
1001754 Uncertain Significance: not provided 45,505,212(-) C/T
NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys)
MISSENSE
1006394 Uncertain Significance: not provided 45,509,401(-) G/A
NM_001379500.1(COL18A1):c.3295G>A (p.Asp1099Asn)
MISSENSE
1011514 Uncertain Significance: not provided 45,504,459(-) G/A
NM_001379500.1(COL18A1):c.2771G>A (p.Arg924Lys)
MISSENSE
1013194 Pathogenic: not provided 45,505,182(-) C/T
NM_001379500.1(COL18A1):c.2917C>T (p.Gln973Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC19A1 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 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)

Additional Variant Information for SLC19A1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC19A1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for SLC19A1 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
knobloch syndrome
  • knobloch-layer syndrome
knobloch syndrome 1
  • kno1
glaucoma, primary closed-angle
  • glcc
stargardt disease 1
  • stgd1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC19A1

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 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 40
  2. Genes involved with folate uptake and distribution and their association with colorectal cancer risk. (PMID: 20037791) Figueiredo JC … Haile RW (Cancer causes & control : CCC 2010) 3 22 40
  3. Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426. (PMID: 19841321) Adjei AA … Zinner RG (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010) 3 22 40
  4. 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 40
  5. 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 40

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