Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9BZV2 (S19A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Thiamine transporter 2

Short name=ThTr-2
Short name=ThTr2
Alternative name(s):
Solute carrier family 19 member 3
Gene names
Name:SLC19A3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length496 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. Ref.5

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed but most abundant in placenta, kidney and liver. Ref.1 Ref.8

Involvement in disease

Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 496496Thiamine transporter 2
PRO_0000232656

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Potential
Topological domain29 – 5325Extracellular Potential
Transmembrane54 – 7421Helical; Potential
Topological domain75 – 817Cytoplasmic Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 1108Extracellular Potential
Transmembrane111 – 13121Helical; Potential
Topological domain132 – 14413Cytoplasmic Potential
Transmembrane145 – 16521Helical; Potential
Topological domain166 – 1694Extracellular Potential
Transmembrane170 – 19021Helical; Potential
Topological domain191 – 28292Cytoplasmic Potential
Transmembrane283 – 30321Helical; Potential
Topological domain304 – 31613Extracellular Potential
Transmembrane317 – 33721Helical; Potential
Topological domain338 – 3425Cytoplasmic Potential
Transmembrane343 – 36321Helical; Potential
Topological domain364 – 37512Extracellular Potential
Transmembrane376 – 39621Helical; Potential
Topological domain397 – 4059Cytoplasmic Potential
Transmembrane406 – 42621Helical; Potential
Topological domain427 – 4348Extracellular Potential
Transmembrane435 – 45521Helical; Potential
Topological domain456 – 49641Cytoplasmic Potential

Amino acid modifications

Glycosylation451N-linked (GlcNAc...) Ref.7
Glycosylation1661N-linked (GlcNAc...) Potential

Natural variations

Natural variant231G → V in THMD2. Ref.8
VAR_025992
Natural variant1741V → I.
Corresponds to variant rs59736804 [ dbSNP | Ensembl ].
VAR_061864
Natural variant3501V → A.
Corresponds to variant rs34507036 [ dbSNP | Ensembl ].
VAR_052405
Natural variant4221T → A in THMD2. Ref.8
VAR_025993

Sequences

Sequence LengthMass (Da)Tools
Q9BZV2 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: B102651C205F0F16

FASTA49655,665
        10         20         30         40         50         60 
MDCYRTSLSS SWIYPTVILC LFGFFSMMRP SEPFLIPYLS GPDKNLTSAE ITNEIFPVWT 

        70         80         90        100        110        120 
YSYLVLLLPV FVLTDYVRYK PVIILQGISF IITWLLLLFG QGVKTMQVVE FFYGMVTAAE 

       130        140        150        160        170        180 
VAYYAYIYSV VSPEHYQRVS GYCRSVTLAA YTAGSVLAQL LVSLANMSYF YLNVISLASV 

       190        200        210        220        230        240 
SVAFLFSLFL PMPKKSMFFH AKPSREIKKS SSVNPVLEET HEGEAPGCEE QKPTSEILST 

       250        260        270        280        290        300 
SGKLNKGQLN SLKPSNVTVD VFVQWFQDLK ECYSSKRLFY WSLWWAFATA GFNQVLNYVQ 

       310        320        330        340        350        360 
ILWDYKAPSQ DSSIYNGAVE AIATFGGAVA AFAVGYVKVN WDLLGELALV VFSVVNAGSL 

       370        380        390        400        410        420 
FLMHYTANIW ACYAGYLIFK SSYMLLITIA VFQIAVNLNV ERYALVFGIN TFIALVIQTI 

       430        440        450        460        470        480 
MTVIVVDQRG LNLPVSIQFL VYGSYFAVIA GIFLMRSMYI TYSTKSQKDV QSPAPSENPD 

       490 
VSHPEEESNI IMSTKL 

« Hide

References

« Hide 'large scale' references
[1]"Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes."
Eudy J.D., Spiegelstein O., Barber R.C., Wlodarczyk B.J., Talbot J., Finnell R.H.
Mol. Genet. Metab. 71:581-590(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Placenta.
[2]"Molecular cloning of an orphan transporter: a new member of the folate transporter gene family."
Wang H., Huang W., Srinivas S.R., Sugawara M., Devoe L.D., Leibach F.H., Ganapathy V., Prasad P.D.
Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Placenta.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[5]"SLC19A3 encodes a second thiamine transporter ThTr2."
Rajgopal A., Edmondnson A., Goldman I.D., Zhao R.
Biochim. Biophys. Acta 1537:175-178(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[6]"SLC19: the folate/thiamine transporter family."
Ganapathy V., Smith S.B., Prasad P.D.
Pflugers Arch. 447:641-646(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45.
Tissue: Liver.
[8]"Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3."
Zeng W.-Q., Al-Yamani E., Acierno J.S. Jr., Slaugenhaupt S.A., Gillis T., MacDonald M.E., Ozand P.T., Gusella J.F.
Am. J. Hum. Genet. 77:16-26(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THMD2 VAL-23 AND ALA-422, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF271633 mRNA. Translation: AAG53879.1.
AF283317 mRNA. Translation: AAK69539.1.
AC064853 Genomic DNA. Translation: AAX93157.1.
BC032014 mRNA. Translation: AAH32014.1.
RefSeqNP_079519.1. NM_025243.3.
UniGeneHs.221597.

3D structure databases

ProteinModelPortalQ9BZV2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123266. 3 interactions.
IntActQ9BZV2. 4 interactions.
MINTMINT-5006585.
STRING9606.ENSP00000258403.

Chemistry

DrugBankDB00151. L-Cysteine.
GuidetoPHARMACOLOGY1016.

Protein family/group databases

TCDB2.A.48.2.3. the reduced folate carrier (rfc) family.

Polymorphism databases

DMDM74733486.

Proteomic databases

PaxDbQ9BZV2.
PRIDEQ9BZV2.

Protocols and materials databases

DNASU80704.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258403; ENSP00000258403; ENSG00000135917.
ENST00000425817; ENSP00000397393; ENSG00000135917.
GeneID80704.
KEGGhsa:80704.
UCSCuc002vpi.3. human.

Organism-specific databases

CTD80704.
GeneCardsGC02M228513.
HGNCHGNC:16266. SLC19A3.
HPAHPA038898.
MIM606152. gene.
607483. phenotype.
neXtProtNX_Q9BZV2.
Orphanet65284. Biotin-responsive basal ganglia disease.
263410. Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease.
255241. Leigh syndrome with leukodystrophy.
199348. Thiamine-responsive encephalopathy.
PharmGKBPA38397.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241030.
HOGENOMHOG000001583.
HOVERGENHBG054198.
InParanoidQ9BZV2.
KOK14610.
OMADIWACYA.
OrthoDBEOG76739R.
PhylomeDBQ9BZV2.
TreeFamTF313684.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9BZV2.
BgeeQ9BZV2.
CleanExHS_SLC19A3.
GenevestigatorQ9BZV2.

Family and domain databases

InterProIPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
IPR028337. ThTr-2.
[Graphical view]
PANTHERPTHR10686. PTHR10686. 1 hit.
PfamPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFPIRSF028739. Folate_carrier. 1 hit.
PIRSF500795. Thiamine_transporter_2. 1 hit.
SUPFAMSSF103473. SSF103473. 2 hits.
TIGRFAMsTIGR00806. rfc. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSLC19A3. human.
GeneWikiSLC19A3.
GenomeRNAi80704.
NextBio70999.
PROQ9BZV2.
SOURCESearch...

Entry information

Entry nameS19A3_HUMAN
AccessionPrimary (citable) accession number: Q9BZV2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: April 16, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM