SLC19A1
Reduced folate transporter
Also known as: FOLT, RFC1, S19A1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P41440
- Gene
- SLC19A1
- Ensembl
- ENSG00000173638
- Chromosome
- 21
- Canonical length
- 591 aa
- Protein class
- Cancer-related genes, Disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
591 residues, UniProt reviewed canonical sequence.
>P41440|SLC19A1
1 MVPSSPAVEK QVPVEPGPDP ELRSWRHLVC YLCFYGFMAQ IRPGESFITP YLLGPDKNFT
61 REQVTNEITP VLSYSYLAVL VPVFLLTDYL RYTPVLLLQG LSFVSVWLLL LLGHSVAHMQ
121 LMELFYSVTM AARIAYSSYI FSLVRPARYQ RVAGYSRAAV LLGVFTSSVL GQLLVTVGRV
181 SFSTLNYISL AFLTFSVVLA LFLKRPKRSL FFNRDDRGRC ETSASELERM NPGPGGKLGH
241 ALRVACGDSV LARMLRELGD SLRRPQLRLW SLWWVFNSAG YYLVVYYVHI LWNEVDPTTN
301 SARVYNGAAD AASTLLGAIT SFAAGFVKIR WARWSKLLIA GVTATQAGLV FLLAHTRHPS
361 SIWLCYAAFV LFRGSYQFLV PIATFQIASS LSKELCALVF GVNTFFATIV KTIITFIVSD
421 VRGLGLPVRK QFQLYSVYFL ILSIIYFLGA MLDGLRHCQR GHHPRQPPAQ GLRSAAEEKA
481 AQALSVQDKG LGGLQPAQSP PLSPEDSLGA VGPASLEQRQ SDPYLAQAPA PQAAEFLSPV
541 TTPSPCTLCS AQASGPEAAD ETCPQLAVHP PGVSKLGLQC LPSDGVQNVN QLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC19A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 45 nTPM
- liver: 21 nTPM
- duodenum: 21 nTPM
- basal ganglia: 20 nTPM
- lung: 16 nTPM
- cerebral cortex: 15 nTPM
Single-cell type
- syncytiotrophoblasts: 444 nCPM
- choroid plexus epithelial cells: 341 nCPM
- cytotrophoblasts: 208 nCPM
- neutrophils: 140 nCPM
- epicardial cells: 109 nCPM
- retinal pigment epithelial cells: 85 nCPM
Immune cell
- neutrophil: 103 nTPM
- eosinophil: 24 nTPM
- classical monocyte: 19 nTPM
- intermediate monocyte: 16 nTPM
- myeloid DC: 13 nTPM
- non-classical monocyte: 11 nTPM
Brain region
- choroid plexus: 189 nTPM
- cerebral cortex: 41 nTPM
- hippocampal formation: 38 nTPM
- amygdala: 31 nTPM
- thalamus: 28 nTPM
- pons: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC19A1.
Disease | AllUniProt
Conditions SLC19A1 is implicated in, by any mechanism.
- Megaloblastic anemia, folate-responsive (MEGAF) MIM:601775
- Immunodeficiency 114, folate-responsive (IMD114) MIM:620603
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 246 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 114, folate-responsive
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.61
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cyclic-GMP-AMP transmembrane import across plasma membrane
- female pregnancy
- folate import across plasma membrane
- folate transmembrane transport
- folic acid metabolic process
- folic acid transport
- organic anion transport
- positive regulation of cGAS/STING signaling pathway
- response to toxic substance
- response to xenobiotic stimulus
- transport across blood-brain barrier
- xenobiotic transmembrane transport
- methotrexate transport
Molecular functions
- 2',3'-cyclic GMP-AMP binding
- antiporter activity
- cyclic-GMP-AMP transmembrane transporter activity
- folic acid binding
- folic acid transmembrane transporter activity
- methotrexate transmembrane transporter activity
- organic anion transmembrane transporter activity
- xenobiotic transmembrane transporter activity
- folate:monoatomic anion antiporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Reduced folate carrier
- MFS transporter superfamily
- Reduced folate carrier
- Reduced folate transporter SLC19A1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC19A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC19A1 as an antibody target. Whether an autoantibody or antibody against SLC19A1 could matter depends on whether native SLC19A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC19A1 is annotated at the cell surface, where native SLC19A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC19A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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