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

    Gene ID: 6573, updated on 14-Nov-2024

    Summary

    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; IMD114; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC19A1 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45502517..45563025, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43870718..43932046, complement)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46858777-46859506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46859507-46860236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46860237-46860966 Neighboring gene collagen type XVIII alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46862147-46862656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46870853-46871354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46871355-46871854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46874827-46875383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46885176-46885740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46885741-46886304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46894762-46895262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46908672-46909202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46912122-46912622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46934825-46935332 Neighboring gene microRNA 6815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46935840-46936346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18591 Neighboring gene Sharpr-MPRA regulatory region 1559 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46948644-46948814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46954106-46954980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13403 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46962482-46962994 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46970045-46970201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46975660-46976554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46980259-46980968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46998853-46999354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47001008-47001944 Neighboring gene uncharacterized LOC107985485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47009554-47010054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47015623-47016124 Neighboring gene Sharpr-MPRA regulatory region 7423 Neighboring gene MPRA-validated peak4424 silencer Neighboring gene MPRA-validated peak4426 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47031725-47032226 Neighboring gene long intergenic non-protein coding RNA 1694 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:47053121-47054320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47057095-47057612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13411 Neighboring gene poly(rC) binding protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47204393-47205264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47236921-47237422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47237423-47237922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47241669-47242354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47244540-47245132 Neighboring gene MPRA-validated peak4427 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47255439-47255946 Neighboring gene PCBP3 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 114, folate-responsive
    MedGen: C5882719 OMIM: 620603 GeneReviews: Not available
    not available
    Megaloblastic anemia, folate-responsive
    MedGen: C2749656 OMIM: 601775 GeneReviews: Not available
    not available

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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
     
    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 positive regulation of cGAS/STING signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    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
     
    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
     
    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

    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)

    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_001205206.4NP_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:1431
      rfc; RFC reduced folate carrier
    2. NM_001205207.3NP_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:23466
      rfc; RFC reduced folate carrier
    3. NM_001352510.2NP_001339439.1  reduced folate transporter isoform 4

      Status: REVIEWED

      Source sequence(s)
      BC023005, BX322561
      Conserved Domains (1) summary
      cl27502
      Location:1388
      Folate_carrier; Reduced folate carrier
    4. NM_001352511.3NP_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:1431
      rfc; RFC reduced folate carrier
    5. NM_001352512.2NP_001339441.1  reduced folate transporter isoform 1

      Status: REVIEWED

      Source sequence(s)
      BC023005, BX322561
      Consensus CDS
      CCDS13725.1
      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
      Conserved Domains (1) summary
      TIGR00806
      Location:1506
      rfc; RFC reduced folate carrier
    6. NM_194255.4NP_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
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
      Related
      ENSP00000308895.4, ENST00000311124.9
      Conserved Domains (1) summary
      TIGR00806
      Location:1506
      rfc; RFC reduced folate carrier

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047440963.1XP_047296919.1  reduced folate transporter isoform X11

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

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

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

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

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

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

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

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

      See identical proteins and their annotated locations for XP_011528002.1

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
      Conserved Domains (1) summary
      TIGR00806
      Location:1506
      rfc; RFC reduced folate carrier
    10. XM_047440954.1XP_047296910.1  reduced folate transporter isoform X2

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

      See identical proteins and their annotated locations for XP_011527998.1

      Conserved Domains (1) summary
      TIGR00806
      Location:98603
      rfc; RFC reduced folate carrier
    12. XM_017028443.2XP_016883932.2  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    13. XM_011529702.3XP_011528004.1  reduced folate transporter isoform X6

      See identical proteins and their annotated locations for XP_011528004.1

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
      Conserved Domains (1) summary
      TIGR00806
      Location:1506
      rfc; RFC reduced folate carrier
    14. XM_047440958.1XP_047296914.1  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    15. XM_011529698.3XP_011528000.1  reduced folate transporter isoform X1

      See identical proteins and their annotated locations for XP_011528000.1

      Conserved Domains (1) summary
      TIGR00806
      Location:23528
      rfc; RFC reduced folate carrier
    16. XM_011529703.3XP_011528005.1  reduced folate transporter isoform X6

      See identical proteins and their annotated locations for XP_011528005.1

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
      Conserved Domains (1) summary
      TIGR00806
      Location:1506
      rfc; RFC reduced folate carrier
    17. XM_047440956.1XP_047296912.1  reduced folate transporter isoform X4

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

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

      Conserved Domains (1) summary
      TIGR00806
      Location:18460
      rfc; RFC reduced folate carrier

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791815.1 Reference GRCh38.p14 PATCHES

      Range
      119752..180251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333325.1XP_054189300.1  reduced folate transporter isoform X11

    2. XM_054333326.1XP_054189301.1  reduced folate transporter isoform X11

    3. XM_054333315.1XP_054189290.1  reduced folate transporter isoform X5

    4. XM_054333313.1XP_054189288.1  reduced folate transporter isoform X3

    5. XM_054333321.1XP_054189296.1  reduced folate transporter isoform X8

    6. XM_054333327.1XP_054189302.1  reduced folate transporter isoform X12

    7. XM_054333324.1XP_054189299.1  reduced folate transporter isoform X10

    8. XM_054333322.1XP_054189297.1  reduced folate transporter isoform X9

    9. XM_054333323.1XP_054189298.1  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    10. XM_054333310.1XP_054189285.1  reduced folate transporter isoform X2

    11. XM_054333311.1XP_054189286.1  reduced folate transporter isoform X2

    12. XM_054333312.1XP_054189287.1  reduced folate transporter isoform X2

    13. XM_054333316.1XP_054189291.1  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    14. XM_054333318.1XP_054189293.1  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    15. XM_054333309.1XP_054189284.1  reduced folate transporter isoform X1

    16. XM_054333317.1XP_054189292.1  reduced folate transporter isoform X6

      UniProtKB/Swiss-Prot
      B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
    17. XM_054333314.1XP_054189289.1  reduced folate transporter isoform X4

    18. XM_054333320.1XP_054189295.1  reduced folate transporter isoform X7

    19. XM_054333319.1XP_054189294.1  reduced folate transporter isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      43870718..43932046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324804.1XP_054180779.1  reduced folate transporter isoform X11

    2. XM_054324805.1XP_054180780.1  reduced folate transporter isoform X11

    3. XM_054324794.1XP_054180769.1  reduced folate transporter isoform X5

    4. XM_054324792.1XP_054180767.1  reduced folate transporter isoform X3

    5. XM_054324800.1XP_054180775.1  reduced folate transporter isoform X8

    6. XM_054324806.1XP_054180781.1  reduced folate transporter isoform X12

    7. XM_054324803.1XP_054180778.1  reduced folate transporter isoform X10

    8. XM_054324801.1XP_054180776.1  reduced folate transporter isoform X9

    9. XM_054324802.1XP_054180777.1  reduced folate transporter isoform X6

    10. XM_054324789.1XP_054180764.1  reduced folate transporter isoform X2

    11. XM_054324790.1XP_054180765.1  reduced folate transporter isoform X2

    12. XM_054324791.1XP_054180766.1  reduced folate transporter isoform X2

    13. XM_054324795.1XP_054180770.1  reduced folate transporter isoform X6

    14. XM_054324797.1XP_054180772.1  reduced folate transporter isoform X6

    15. XM_054324788.1XP_054180763.1  reduced folate transporter isoform X1

    16. XM_054324796.1XP_054180771.1  reduced folate transporter isoform X6

    17. XM_054324793.1XP_054180768.1  reduced folate transporter isoform X4

    18. XM_054324799.1XP_054180774.1  reduced folate transporter isoform X7

    19. XM_054324798.1XP_054180773.1  reduced folate transporter isoform X7

    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.