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

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: mouse all
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Genomic context

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.
Title: Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC.
Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults.
Title: Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults.
Correlation between methylation level of the SLC19A1 promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia.
Title: Correlation between methylation level of the SLC19A1 promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia.
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.
Recognition of cyclic dinucleotides and folates by human SLC19A1.
Title: Recognition of cyclic dinucleotides and folates by human SLC19A1.
Methotrexate recognition by the human reduced folate carrier SLC19A1.
Title: Methotrexate recognition by the human reduced folate carrier SLC19A1.
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.
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.
The transcriptome profile of human trisomy 21 blood cells.
Title: The transcriptome profile of human trisomy 21 blood cells.
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.

Submit: New GeneRIF Correction See all GeneRIFs (176)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

COL18A1_540.2 (e-PCR)
- UniSTS:280615

STS_CEB288 (e-PCR)
- UniSTS:255276

SHGC-12530 (e-PCR)
- UniSTS:98863

SHGC-8080 (e-PCR)
- UniSTS:7730

SHGC-87711 (e-PCR)
- UniSTS:81506

SHGC-87717 (e-PCR)
- UniSTS:56677

RH91121 (e-PCR)
- UniSTS:90773

STS-T97724 (e-PCR)
- UniSTS:24277

RH78304 (e-PCR)
- UniSTS:49111

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
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
enables folic acid transmembrane transporter activity	IDA Inferred from Direct Assay 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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
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

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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)

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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

NG_028278.2 RefSeqGene

Range

25704..55579

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8

Conserved Domains (1) summary

TIGR00806
Location:1 → 506

rfc; RFC reduced folate carrier
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

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8

Related

ENSP00000308895.4, ENST00000311124.9

Conserved Domains (1) summary

TIGR00806
Location:1 → 506

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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

45502517..45563025 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440963.1 → XP_047296919.1 reduced folate transporter isoform X11
XM_047440964.1 → XP_047296920.1 reduced folate transporter isoform X11
XM_047440957.1 → XP_047296913.1 reduced folate transporter isoform X5
XM_047440960.1 → XP_047296916.1 reduced folate transporter isoform X8
XM_047440955.1 → XP_047296911.1 reduced folate transporter isoform X3
XM_047440965.1 → XP_047296921.1 reduced folate transporter isoform X12
XM_047440962.1 → XP_047296918.1 reduced folate transporter isoform X10
XM_047440961.1 → XP_047296917.1 reduced folate transporter isoform X9
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

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8

Conserved Domains (1) summary

TIGR00806
Location:1 → 506

rfc; RFC reduced folate carrier
XM_047440954.1 → XP_047296910.1 reduced folate transporter isoform X2
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
XM_017028443.2 → XP_016883932.2 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
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

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8

Conserved Domains (1) summary

TIGR00806
Location:1 → 506

rfc; RFC reduced folate carrier
XM_047440958.1 → XP_047296914.1 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
XM_011529698.3 → XP_011528000.1 reduced folate transporter isoform X1

See identical proteins and their annotated locations for XP_011528000.1

Conserved Domains (1) summary

TIGR00806
Location:23 → 528

rfc; RFC reduced folate carrier
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

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8

Conserved Domains (1) summary

TIGR00806
Location:1 → 506

rfc; RFC reduced folate carrier
XM_047440956.1 → XP_047296912.1 reduced folate transporter isoform X4
XM_047440959.1 → XP_047296915.1 reduced folate transporter isoform X7
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

NW_025791815.1 Reference GRCh38.p14 PATCHES

Range

119752..180251 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333325.1 → XP_054189300.1 reduced folate transporter isoform X11
XM_054333326.1 → XP_054189301.1 reduced folate transporter isoform X11
XM_054333315.1 → XP_054189290.1 reduced folate transporter isoform X5
XM_054333313.1 → XP_054189288.1 reduced folate transporter isoform X3
XM_054333321.1 → XP_054189296.1 reduced folate transporter isoform X8
XM_054333327.1 → XP_054189302.1 reduced folate transporter isoform X12
XM_054333324.1 → XP_054189299.1 reduced folate transporter isoform X10
XM_054333322.1 → XP_054189297.1 reduced folate transporter isoform X9
XM_054333323.1 → XP_054189298.1 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
XM_054333310.1 → XP_054189285.1 reduced folate transporter isoform X2
XM_054333311.1 → XP_054189286.1 reduced folate transporter isoform X2
XM_054333312.1 → XP_054189287.1 reduced folate transporter isoform X2
XM_054333316.1 → XP_054189291.1 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
XM_054333318.1 → XP_054189293.1 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
XM_054333309.1 → XP_054189284.1 reduced folate transporter isoform X1
XM_054333317.1 → XP_054189292.1 reduced folate transporter isoform X6

UniProtKB/Swiss-Prot

B2R7U8, B7Z8C3, E9PFY4, O00553, O60227, P41440, Q13026, Q9BTX8
XM_054333314.1 → XP_054189289.1 reduced folate transporter isoform X4
XM_054333320.1 → XP_054189295.1 reduced folate transporter isoform X7
XM_054333319.1 → XP_054189294.1 reduced folate transporter isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

43870718..43932046 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324804.1 → XP_054180779.1 reduced folate transporter isoform X11
XM_054324805.1 → XP_054180780.1 reduced folate transporter isoform X11
XM_054324794.1 → XP_054180769.1 reduced folate transporter isoform X5
XM_054324792.1 → XP_054180767.1 reduced folate transporter isoform X3
XM_054324800.1 → XP_054180775.1 reduced folate transporter isoform X8
XM_054324806.1 → XP_054180781.1 reduced folate transporter isoform X12
XM_054324803.1 → XP_054180778.1 reduced folate transporter isoform X10
XM_054324801.1 → XP_054180776.1 reduced folate transporter isoform X9
XM_054324802.1 → XP_054180777.1 reduced folate transporter isoform X6
XM_054324789.1 → XP_054180764.1 reduced folate transporter isoform X2
XM_054324790.1 → XP_054180765.1 reduced folate transporter isoform X2
XM_054324791.1 → XP_054180766.1 reduced folate transporter isoform X2
XM_054324795.1 → XP_054180770.1 reduced folate transporter isoform X6
XM_054324797.1 → XP_054180772.1 reduced folate transporter isoform X6
XM_054324788.1 → XP_054180763.1 reduced folate transporter isoform X1
XM_054324796.1 → XP_054180771.1 reduced folate transporter isoform X6
XM_054324793.1 → XP_054180768.1 reduced folate transporter isoform X4
XM_054324799.1 → XP_054180774.1 reduced folate transporter isoform X7
XM_054324798.1 → XP_054180773.1 reduced folate transporter isoform X7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.