Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6573
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 19 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC19A1
Synonyms (NCBI Gene) Gene synonyms aliases
CHMD, FOLT, IFC-1, IFC1, IMD114, MEGAF, REFC, RFC, RFC1, RFT-1, hRFC, hSLC19A1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD114, MEGAF
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051284 hsa-miR-16-5p CLASH 23622248
MIRT048799 hsa-miR-93-5p CLASH 23622248
MIRT045982 hsa-miR-125b-5p CLASH 23622248
MIRT042257 hsa-miR-484 CLASH 23622248
MIRT626471 hsa-miR-548e-5p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
CEBPB Activation 15652157
CREB1 Unknown 11078737
JUN Unknown 11078737
SP1 Activation 15652157
TFAP2A Activation 12228234
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005542 Function Folic acid binding IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 23137377, 28112518
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600424 10937 ENSG00000173638
Protein
UniProt ID P41440
Protein name Reduced folate transporter (FOLT) (Cyclic dinucleotide:anion antiporter SLC19A1) (Folate:anion antiporter SLC19A1) (Intestinal folate carrier 1) (IFC-1) (Placental folate transporter) (Reduced folate carrier protein) (RFC) (hRFC) (Reduced folate transport
Protein function Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:22554803, PubMed:31126740, PubMed:31511694, PubMed:3227
PDB 7TX6 , 7TX7 , 7XPZ , 7XQ0 , 7XQ1 , 7XQ2 , 7XTK , 8DEP , 8GOE , 8GOF , 8HII , 8HIJ , 8HIK , 9JOZ , 9JRI , 9JRK , 9JRL , 9JRM , 9JRN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01770 Folate_carrier 23 434 Reduced folate carrier Family
Tissue specificity TISSUE SPECIFICITY: Placenta, liver, and to a much smaller extent, in lung. {ECO:0000269|PubMed:7826387}.
Sequence
Sequence length 591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Antifolate resistance
Vitamin digestion and absorption
Folate transport and metabolism
  Metabolism of folate and pterines
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
16917939, 20468076
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23555315
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15705887
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 21274745
Adrenal Insufficiency Associate 19650776
Alzheimer Disease Associate 24554143
Aortic Aneurysm Abdominal Associate 20871623
Aortic Dissection Associate 20871623
Arthritis Rheumatoid Associate 22450926, 26587663, 30175777, 34302046
Atrioventricular Septal Defect Associate 20718043
Autism Spectrum Disorder Associate 27213354
Autistic Disorder Associate 27213354
Bone Marrow Diseases Associate 20335220