Human Gene SLC19A1 (ENST00000380010.8) from GENCODE V44
  Description: Homo sapiens solute carrier family 19 member 1 (SLC19A1), transcript variant 2, mRNA. (from RefSeq NM_001205206)
RefSeq Summary (NM_001205206): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000380010.8
Gencode Gene: ENSG00000173638.19
Transcript (Including UTRs)
   Position: hg38 chr21:45,514,715-45,542,471 Size: 27,757 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr21:45,514,976-45,537,959 Size: 22,984 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:45,514,715-45,542,471)mRNA (may differ from genome)Protein (489 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S19A1_HUMAN
DESCRIPTION: RecName: Full=Folate transporter 1; Short=FOLT; AltName: Full=Intestinal folate carrier 1; Short=IFC-1; AltName: Full=Placental folate transporter; AltName: Full=Reduced folate carrier protein; Short=RFC; AltName: Full=Solute carrier family 19 member 1;
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.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Placenta, liver, and to a much smaller extent, in lung.
PTM: Heavily glycosylated.
SIMILARITY: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC19A1
Diseases sorted by gene-association score: placental choriocarcinoma (27), methotrexate toxicity or dose selection* (25), pediatric osteosarcoma (23), thiamine-responsive megaloblastic anemia syndrome (14), choriocarcinoma (11), acute lymphoblastic leukemia, childhood (11), neural tube defects (10), thiamine metabolism dysfunction syndrome 2 (9), omphalocele (5), homocysteinemia (5), osteosarcoma, somatic (5), acute lymphocytic leukemia (3), leukemia, acute lymphoblastic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.66 RPKM in Whole Blood
Total median expression: 132.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.20153-0.485 Picture PostScript Text
3' UTR -116.00261-0.444 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002666 - Folate_carrier
IPR016196 - MFS_dom_general_subst_transpt

Pfam Domains:
PF01770 - Reduced folate carrier

ModBase Predicted Comparative 3D Structure on P41440
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005542 folic acid binding
GO:0008517 folic acid transporter activity
GO:0008518 reduced folate carrier activity
GO:0015350 methotrexate transporter activity
GO:0090482 vitamin transmembrane transporter activity

Biological Process:
GO:0015884 folic acid transport
GO:0046655 folic acid metabolic process
GO:0051180 vitamin transport
GO:0051958 methotrexate transport
GO:0098838 reduced folate transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AB209069 - Homo sapiens mRNA for solute carrier family 19 member 1 isoform b variant protein.
AK310797 - Homo sapiens cDNA, FLJ17839.
U17566 - Human 65 kDa hydrophobic protein mRNA, complete cds.
U19720 - Human reduced folate carrier (RFC) mRNA, complete cds.
BC003068 - Homo sapiens solute carrier family 19 (folate transporter), member 1, mRNA (cDNA clone MGC:2165 IMAGE:3509422), complete cds.
JD079096 - Sequence 60120 from Patent EP1572962.
JD237248 - Sequence 218272 from Patent EP1572962.
BC128247 - Homo sapiens solute carrier family 19 (folate transporter), member 1, mRNA (cDNA clone IMAGE:40114770), partial cds.
JD491266 - Sequence 472290 from Patent EP1572962.
AF004354 - Homo sapiens folate carrier mRNA, complete cds.
JD294892 - Sequence 275916 from Patent EP1572962.
JD141467 - Sequence 122491 from Patent EP1572962.
JD195958 - Sequence 176982 from Patent EP1572962.
DQ891831 - Synthetic construct clone IMAGE:100004461; FLH180377.01X; RZPDo839B07134D solute carrier family 19 (folate transporter), member 1 (SLC19A1) gene, encodes complete protein.
DQ895016 - Synthetic construct Homo sapiens clone IMAGE:100009476; FLH180373.01L; RZPDo839B07133D solute carrier family 19 (folate transporter), member 1 (SLC19A1) gene, encodes complete protein.
JD487779 - Sequence 468803 from Patent EP1572962.
JD104706 - Sequence 85730 from Patent EP1572962.
JD471049 - Sequence 452073 from Patent EP1572962.
JD538951 - Sequence 519975 from Patent EP1572962.
JD090546 - Sequence 71570 from Patent EP1572962.
U15939 - Human placental folate transporter (hFOLT1) mRNA, complete cds.
AK303168 - Homo sapiens cDNA FLJ53257 complete cds, highly similar to Folate transporter 1.
S78996 - RFC1=reduced folate carrier {coding region} [human, testis, mRNA Partial, 1776 nt].
AK313125 - Homo sapiens cDNA, FLJ93611, highly similar to Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), mRNA.
AK307623 - Homo sapiens cDNA, FLJ97571.
JD389089 - Sequence 370113 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P41440 (Reactome details) participates in the following event(s):

R-HSA-200652 Extracellular 5-methyltetrahydrofolate import across the plasma membrane
R-HSA-196757 Metabolism of folate and pterines
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7U8, B7Z8C3, E9PFY4, ENST00000380010.1, ENST00000380010.2, ENST00000380010.3, ENST00000380010.4, ENST00000380010.5, ENST00000380010.6, ENST00000380010.7, FLOT1, NM_001205206, O00553, O60227, P41440, Q13026, Q9BTX8, RFC1, S19A1_HUMAN, uc002zhm.1, uc002zhm.2
UCSC ID: ENST00000380010.8
RefSeq Accession: NM_001205206
Protein: P41440 (aka S19A1_HUMAN)
CCDS: CCDS56218.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.