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

Gene ID: 6573, updated on 17-Nov-2019

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
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; 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

Genomic context

See SLC19A1 in Genome Data Viewer
Location:
21q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (45502517..45563140, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46934629..46983045, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene COL18A1 antisense RNA 1 Neighboring gene collagen type XVIII alpha 1 chain Neighboring gene microRNA 6815 Neighboring gene uncharacterized LOC107987304 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 BioSystems

  • Antifolate resistance, organism-specific biosystem (from KEGG)
    Antifolate resistance, organism-specific biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
  • Antifolate resistance, conserved biosystem (from KEGG)
    Antifolate resistance, conserved biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
  • Folate Metabolism, organism-specific biosystem (from WikiPathways)
    Folate Metabolism, organism-specific biosystem
    Folate Metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of folate and pterines, organism-specific biosystem (from REACTOME)
    Metabolism of folate and pterines, organism-specific biosystemFolates are essential cofactors that provide one-carbon moieties in various states of reduction for biosynthetic reactions. Processes annotated here include transport reactions by which folates are t...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
    Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
  • Vitamin digestion and absorption, conserved biosystem (from KEGG)
    Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclic-GMP-AMP binding IDA
Inferred from Direct Assay
more info
PubMed 
folate:anion antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
folate:anion antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
folic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
folic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
folic acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
folic acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
methotrexate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
folate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
folate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
folate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
folic acid metabolic process TAS
Traceable Author Statement
more info
 
folic acid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
methotrexate transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
reduced folate transporter
Names
folate transporter 1
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)

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_001205206.3NP_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 (2) summary
    TIGR00806
    Location:23466
    rfc; RFC reduced folate carrier
    pfam01770
    Location:23394
    Folate_carrier; 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_001352511.2NP_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
    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
    P41440
    Related
    ENSP00000308895.4, ENST00000311124.9
    Conserved Domains (1) summary
    TIGR00806
    Location:1506
    rfc; RFC reduced folate carrier

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    45502517..45563140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028445.2XP_016883934.1  reduced folate transporter isoform X7

    Conserved Domains (2) summary
    TIGR00806
    Location:98528
    rfc; RFC reduced folate carrier
    pfam01770
    Location:121528
    Folate_carrier; Reduced folate carrier
  2. XM_017028444.1XP_016883933.1  reduced folate transporter isoform X5

    Conserved Domains (2) summary
    TIGR00806
    Location:98528
    rfc; RFC reduced folate carrier
    pfam01770
    Location:121528
    Folate_carrier; Reduced folate carrier
  3. XM_011529700.2XP_011528002.1  reduced folate transporter isoform X4

    See identical proteins and their annotated locations for XP_011528002.1

    UniProtKB/Swiss-Prot
    P41440
    Conserved Domains (1) summary
    TIGR00806
    Location:1506
    rfc; RFC reduced folate carrier
  4. XM_011529709.2XP_011528011.1  reduced folate transporter isoform X8

    See identical proteins and their annotated locations for XP_011528011.1

    Conserved Domains (1) summary
    cl27502
    Location:1388
    Folate_carrier; Reduced folate carrier
  5. XM_011529696.2XP_011527998.1  reduced folate transporter isoform X1

    See identical proteins and their annotated locations for XP_011527998.1

    Conserved Domains (2) summary
    TIGR00806
    Location:98603
    rfc; RFC reduced folate carrier
    pfam01770
    Location:121531
    Folate_carrier; Reduced folate carrier
  6. XM_011529701.2XP_011528003.1  reduced folate transporter isoform X4

    See identical proteins and their annotated locations for XP_011528003.1

    UniProtKB/Swiss-Prot
    P41440
    Conserved Domains (1) summary
    TIGR00806
    Location:1506
    rfc; RFC reduced folate carrier
  7. XM_017028443.1XP_016883932.1  reduced folate transporter isoform X2

  8. XM_011529702.2XP_011528004.1  reduced folate transporter isoform X4

    See identical proteins and their annotated locations for XP_011528004.1

    UniProtKB/Swiss-Prot
    P41440
    Conserved Domains (1) summary
    TIGR00806
    Location:1506
    rfc; RFC reduced folate carrier
  9. XM_011529703.2XP_011528005.1  reduced folate transporter isoform X4

    See identical proteins and their annotated locations for XP_011528005.1

    UniProtKB/Swiss-Prot
    P41440
    Conserved Domains (1) summary
    TIGR00806
    Location:1506
    rfc; RFC reduced folate carrier
  10. XM_011529698.2XP_011528000.1  reduced folate transporter isoform X3

    See identical proteins and their annotated locations for XP_011528000.1

    UniProtKB/TrEMBL
    D3DSM6
    Conserved Domains (2) summary
    TIGR00806
    Location:23528
    rfc; RFC reduced folate carrier
    pfam01770
    Location:46456
    Folate_carrier; Reduced folate carrier
  11. XM_011529706.3XP_011528008.1  reduced folate transporter isoform X6

    Conserved Domains (2) summary
    TIGR00806
    Location:18460
    rfc; RFC reduced folate carrier
    pfam01770
    Location:18388
    Folate_carrier; Reduced folate carrier

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.
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