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SLC19: The folate/thiamine transporter family
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Human Gene
Name
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Protein
Name
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Aliases
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Predominant Substrates
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Transport type /Coupling ions
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Tissue distribution and cellular/ subcellular expression
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Link to disease
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Human gene locus
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Sequence
Accession
ID
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Splice variants and their specific features
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SLC19A1
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RFT
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RFC
FOLT
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N5-methyltetra
hydrofolate
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E / OH-
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Ubiquitous / Plasma membrane,
also in mitochondrial membrane
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Methotrexate resistance
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21q22.3
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NM_003056
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Several splice variants in the 5′ UTR
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SLC19A2
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ThTr1
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ThT1
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Thiamine
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E / H+
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Ubiquitous / Plasma membrane
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Thiamine-responsive megaloblastic anemiaG
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1q23.3
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NM_006996
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A functional variant lacking 38 amino acids in the
intracellular loop between TM domains 6 and 7 identified in mouse
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SLC19A3
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ThTr2
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Thiamine
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E / H+
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Ubiquitous / Plasma membrane
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Seizure susceptibilityG?
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2q37
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NM_025243
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None known
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Figure legends:
Figure 1. Proposed transport mechanisms for the members of
the SLC19 gene family.
Figure 2.
Role of SLC19A1 in the transcellular transfer of folate across
different epithelia.
A) enterocyte; B) retinal pigment epithelium; C) kidney tubular
cell; D) placental syncytiotrophoblast.
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