Homo sapiens Gene: SLC19A1
Summary
InnateDB Gene IDBG-5929.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC19A1
Gene Name solute carrier family 19 (folate transporter), member 1
Synonyms CHMD; FOLT; IFC1; REFC; RFC1
Species Homo sapiens
Ensembl Gene ENSG00000173638
Encoded Proteins
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
solute carrier family 19 (folate transporter), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:45493572-45544411
Strand Reverse strand
Band q22.3
Transcripts
ENST00000311124 ENSP00000308895
ENST00000380010 ENSP00000369347
ENST00000417954 ENSP00000393988
ENST00000427839 ENSP00000401850
ENST00000443742 ENSP00000411345
ENST00000461785
ENST00000485649 ENSP00000441772
ENST00000468508
ENST00000460174
ENST00000477688 ENSP00000478997
ENST00000486303
ENST00000528477 ENSP00000435780
ENST00000567670 ENSP00000457278
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 1 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005542 folic acid binding
GO:0008517 folic acid transporter activity
GO:0015350 methotrexate transporter activity
GO:0016491 oxidoreductase activity
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006810 transport
GO:0008152 metabolic process
GO:0015884 folic acid transport
GO:0044281 small molecule metabolic process
GO:0046655 folic acid metabolic process
GO:0051958 methotrexate transport
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Metabolism of folate and pterines pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.735595 Hs.84190
RefSeq NM_001205206 NM_001205207 NM_194255 XM_005261164
HUGO
OMIM
CCDS CCDS13725 CCDS56217 CCDS56218
HPRD 02691
IMGT
EMBL
GenPept
RNA Seq Atlas