U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SLC19A1 solute carrier family 19 member 1 [ Homo sapiens (human) ]

Gene ID: 6573, updated on 9-Mar-2023

Summary

Go to the top of the page Help
Official Symbol
SLC19A1provided by HGNC
Official Full Name
solute carrier family 19 member 1provided by HGNC
Primary source
HGNC:HGNC:10937
See related
Ensembl:ENSG00000173638 MIM:600424; AllianceGenome:HGNC:10937
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RFC; CHMD; FOLT; IFC1; REFC; RFC1; hRFC; IFC-1; MEGAF; RFT-1; hSLC19A1
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]
Annotation information
Note: RFC1 (GeneID: 5981) and SLC19A1 (GeneID: 6573) share the RFC1 symbol/alias in common. RFC1 is the official symbol for the gene name 'replication factor C subunit 1' and is an alias for 'reduced folate carrier 1' on the 'solute carrier family 19 member 1' gene. [18 May 2018]
Expression
Ubiquitous expression in liver (RPKM 10.8), placenta (RPKM 8.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See SLC19A1 in Genome Data Viewer
Location:
21q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45502517..45563025, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43880658..43932046, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46932461..46982939, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905042 Neighboring gene collagen type XVIII alpha 1 chain Neighboring gene microRNA 6815 Neighboring gene Sharpr-MPRA regulatory region 1559 Neighboring gene uncharacterized LOC107985485 Neighboring gene long intergenic non-protein coding RNA 1694 Neighboring gene poly(rC) binding protein 3 Neighboring gene PCBP3 antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Recognition of cyclic dinucleotides and folates by human SLC19A1. Zhang Q, et al. Nature, 2022 Dec. PMID 36265513
  2. Methotrexate recognition by the human reduced folate carrier SLC19A1. Wright NJ, et al. Nature, 2022 Sep. PMID 36071163, Free PMC Article
  3. Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker for Prognosis in Multiple Myeloma. Li W, et al. Front Immunol, 2022. PMID 35958555, Free PMC Article
  4. SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome. O'Brien NL, et al. Alcohol Alcohol, 2022 Sep 10. PMID 35952336
  5. The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis. Yi K, et al. Med Sci Monit, 2021 May 3. PMID 33935279, Free PMC Article

See all (304) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte.
    Title: Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte.
  2. Recognition of cyclic dinucleotides and folates by human SLC19A1.
    Title: Recognition of cyclic dinucleotides and folates by human SLC19A1.
  3. Methotrexate recognition by the human reduced folate carrier SLC19A1.
    Title: Methotrexate recognition by the human reduced folate carrier SLC19A1.
  4. SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.
    Title: SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.
  5. Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker for Prognosis in Multiple Myeloma.
    Title: Hypoxia-Immune-Related Gene SLC19A1 Serves as a Potential Biomarker for Prognosis in Multiple Myeloma.
  6. The transcriptome profile of human trisomy 21 blood cells.
    Title: The transcriptome profile of human trisomy 21 blood cells.
  7. Tumor Reliance on Cytosolic versus Mitochondrial One-Carbon Flux Depends on Folate Availability.
    Title: Tumor Reliance on Cytosolic versus Mitochondrial One-Carbon Flux Depends on Folate Availability.
  8. Folate transporter dynamics and therapy with classic and tumor-targeted antifolates.
    Title: Folate transporter dynamics and therapy with classic and tumor-targeted antifolates.
  9. Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring.
    Title: Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring.
  10. SLC19A1 May Serve as a Potential Biomarker for Diagnosis and Prognosis in Osteosarcoma.
    Title: SLC19A1 May Serve as a Potential Biomarker for Diagnosis and Prognosis in Osteosarcoma.
Submit: New GeneRIF Correction See all GeneRIFs (173)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Megaloblastic anemia, folate-responsive
MedGen: C2749656 OMIM: 601775 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC19A1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2',3'-cyclic GMP-AMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cyclic-GMP-AMP transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables folate:monoatomic anion antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables folate:monoatomic anion antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables folate:monoatomic anion antiporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables folic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables folic acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables folic acid transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables methotrexate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables organic anion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables xenobiotic transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in female pregnancy IEA
Inferred from Electronic Annotation
more info
  
involved_in folate import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in folate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in folate transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in folic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in folic acid transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in folic acid transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in methotrexate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in organic anion transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transport across blood-brain barrier TAS
Traceable Author Statement
more info
 PubMed 
involved_in xenobiotic transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
reduced folate transporter
Names
cyclic dinucleotide:anion antiporter SLC19A1
folate transporter 1
folate:anion antiporter SLC19A1
intestinal folate carrier 1
placental folate transporter
reduced folate carrier 1
reduced folate carrier protein
reduced folate transporter 1
solute carrier family 19 (folate transporter), member 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028278.2 RefSeqGene

    Range
    25704..55579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001205206.4 → NP_001192135.1  reduced folate transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK307623, AK313125, BC003068, BC023005, BX322561
    Consensus CDS
    CCDS56218.1
    UniProtKB/Swiss-Prot
    P41440
    Related
    ENSP00000369347.4, ENST00000380010.8
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 431
    rfc; RFC reduced folate carrier

  2. NM_001205207.3 → NP_001192136.1  reduced folate transporter isoform 3

    See identical proteins and their annotated locations for NP_001192136.1

    Status: REVIEWED

    Source sequence(s)
    AK303168, BC023005, BX322561, DC311922, U19720
    Consensus CDS
    CCDS56217.1
    UniProtKB/Swiss-Prot
    P41440
    Related
    ENSP00000441772.1, ENST00000485649.3
    Conserved Domains (1) summary
    TIGR00806
    Location:23 → 466
    rfc; RFC reduced folate carrier

  3. NM_001352510.2 → NP_001339439.1  reduced folate transporter isoform 4

    Status: REVIEWED

    Source sequence(s)
    BC023005, BX322561
    Conserved Domains (1) summary
    cl27502
    Location:1 → 388
    Folate_carrier; Reduced folate carrier

  4. NM_001352511.3 → NP_001339440.1  reduced folate transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    BC023005, BX322561
    Consensus CDS
    CCDS56218.1
    Related
    ENSP00000498221.1, ENST00000650808.1
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 431
    rfc; RFC reduced folate carrier

  5. NM_001352512.2 → NP_001339441.1  reduced folate transporter isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC023005, BX322561
    Consensus CDS
    CCDS13725.1
    UniProtKB/Swiss-Prot
    Q9BTX8
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 506
    rfc; RFC reduced folate carrier

  6. NM_194255.4 → NP_919231.1  reduced folate transporter isoform 1

    See identical proteins and their annotated locations for NP_919231.1

    Status: REVIEWED

    Source sequence(s)
    AK307623, AK313125, BC023005, BX322561, U19720
    Consensus CDS
    CCDS13725.1
    UniProtKB/Swiss-Prot
    P41440, Q9BTX8
    Related
    ENSP00000308895.4, ENST00000311124.9
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 506
    rfc; RFC reduced folate carrier

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    45502517..45563025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440963.1 → XP_047296919.1  reduced folate transporter isoform X11

  2. XM_047440964.1 → XP_047296920.1  reduced folate transporter isoform X11

  3. XM_047440957.1 → XP_047296913.1  reduced folate transporter isoform X5

  4. XM_047440960.1 → XP_047296916.1  reduced folate transporter isoform X8

  5. XM_047440955.1 → XP_047296911.1  reduced folate transporter isoform X3

  6. XM_047440965.1 → XP_047296921.1  reduced folate transporter isoform X12

  7. XM_047440962.1 → XP_047296918.1  reduced folate transporter isoform X10

  8. XM_047440961.1 → XP_047296917.1  reduced folate transporter isoform X9

  9. XM_011529700.3 → XP_011528002.1  reduced folate transporter isoform X6

    See identical proteins and their annotated locations for XP_011528002.1

    UniProtKB/Swiss-Prot
    P41440, Q9BTX8
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 506
    rfc; RFC reduced folate carrier

  10. XM_047440954.1 → XP_047296910.1  reduced folate transporter isoform X2

  11. XM_011529696.3 → XP_011527998.1  reduced folate transporter isoform X2

    See identical proteins and their annotated locations for XP_011527998.1

    Conserved Domains (1) summary
    TIGR00806
    Location:98 → 603
    rfc; RFC reduced folate carrier

  12. XM_017028443.2 → XP_016883932.2  reduced folate transporter isoform X6

    UniProtKB/Swiss-Prot
    Q9BTX8

  13. XM_011529702.3 → XP_011528004.1  reduced folate transporter isoform X6

    See identical proteins and their annotated locations for XP_011528004.1

    UniProtKB/Swiss-Prot
    P41440, Q9BTX8
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 506
    rfc; RFC reduced folate carrier

  14. XM_047440958.1 → XP_047296914.1  reduced folate transporter isoform X6

    UniProtKB/Swiss-Prot
    Q9BTX8

  15. XM_011529698.3 → XP_011528000.1  reduced folate transporter isoform X1

    See identical proteins and their annotated locations for XP_011528000.1

    UniProtKB/TrEMBL
    D3DSM6
    Conserved Domains (1) summary
    TIGR00806
    Location:23 → 528
    rfc; RFC reduced folate carrier

  16. XM_011529703.3 → XP_011528005.1  reduced folate transporter isoform X6

    See identical proteins and their annotated locations for XP_011528005.1

    UniProtKB/Swiss-Prot
    P41440, Q9BTX8
    Conserved Domains (1) summary
    TIGR00806
    Location:1 → 506
    rfc; RFC reduced folate carrier

  17. XM_047440956.1 → XP_047296912.1  reduced folate transporter isoform X4

  18. XM_047440959.1 → XP_047296915.1  reduced folate transporter isoform X7

  19. XM_011529706.4 → XP_011528008.1  reduced folate transporter isoform X7

    Conserved Domains (1) summary
    TIGR00806
    Location:18 → 460
    rfc; RFC reduced folate carrier

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791815.1 Reference GRCh38.p14 PATCHES

    Range
    129773..180251 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43880658..43932046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003056.2: Suppressed sequence

    Description
    NM_003056.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41440.3 GenPept UniProtKB/Swiss-Prot:P41440

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous