SLC19A3

Protein identityUniProt · HPA

UniProt accession

Q9BZV2

Gene

SLC19A3

Ensembl

ENSG00000135917

Chromosome

2

Canonical length

496 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

496 residues, UniProt reviewed canonical sequence.

>Q9BZV2|SLC19A3
     1  MDCYRTSLSS SWIYPTVILC LFGFFSMMRP SEPFLIPYLS GPDKNLTSAE ITNEIFPVWT
    61  YSYLVLLLPV FVLTDYVRYK PVIILQGISF IITWLLLLFG QGVKTMQVVE FFYGMVTAAE
   121  VAYYAYIYSV VSPEHYQRVS GYCRSVTLAA YTAGSVLAQL LVSLANMSYF YLNVISLASV
   181  SVAFLFSLFL PMPKKSMFFH AKPSREIKKS SSVNPVLEET HEGEAPGCEE QKPTSEILST
   241  SGKLNKGQLN SLKPSNVTVD VFVQWFQDLK ECYSSKRLFY WSLWWAFATA GFNQVLNYVQ
   301  ILWDYKAPSQ DSSIYNGAVE AIATFGGAVA AFAVGYVKVN WDLLGELALV VFSVVNAGSL
   361  FLMHYTANIW ACYAGYLIFK SSYMLLITIA VFQIAVNLNV ERYALVFGIN TFIALVIQTI
   421  MTVIVVDQRG LNLPVSIQFL VYGSYFAVIA GIFLMRSMYI TYSTKSQKDV QSPAPSENPD
   481  VSHPEEESNI IMSTKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC19A3 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)

0.32

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC19A3.

Disease | AllUniProt

Conditions SLC19A3 is implicated in, by any mechanism.

• Basal ganglia disease, biotin-thiamine responsive (BTBGD) MIM:607483

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 714 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Biotin-responsive basal ganglia disease
• Inborn genetic diseases
• Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)
• SLC19A3-related disorder

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)

0.59

gnomAD pLI

0.1

gnomAD missense Z

-0.37

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• pyridoxine transport
• thiamine diphosphate biosynthetic process
• thiamine transmembrane transport
• thiamine transport
• thiamine-containing compound metabolic process

Molecular functions

• thiamine transmembrane transporter activity

Cellular components

• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Reduced folate carrier
• MFS transporter superfamily
• Reduced folate carrier
• Thiamine transporter 2

KeywordsUniProt

• Glycoprotein
• Membrane
• Transmembrane
• Transmembrane helix
• Transport