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2.A.48.1.4
Thiamine (and biotin) transporter-2, ThTr-2, of 496 aas and 12 TMSs. Downregulated in Chronic Kidney Disease (CKD) in heart, liver, and brain causing malabsorption (Bukhari et al., 2011).  Activated by microtubules but not microfilaments  (Subramanian et al. 2013). Activated by direct interaction with the 4 TMS protein, TM4 of the L6 family, member 4, TM4SF4 (P48230) (Subramanian et al. 2014). Mutations result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and dysphagia, advancing to coma and death (Whitford et al. 2017).

Accession Number:Q9BZV2
Protein Name:Thiamine transporter 2
Length:496
Molecular Weight:55665.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Thiamine

Cross database links:

Genevestigator: Q9BZV2 Q9BZV2
eggNOG: prNOG12301 NOG241030
HEGENOM: HBG385651 HOG000001583
Entrez Gene ID: 80704   
Pfam: PF01770   
KEGG: hsa:80704    hsa:80704   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005886 C:plasma membrane
GO:0005542 F:folic acid binding
GO:0008518 F:reduced folate carrier activity
GO:0015403 F:thiamine uptake transmembrane transporter activity
GO:0042723 P:thiamine-containing compound metabolic process

References (14)

[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.et.al.   11136550
[2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “SLC19A3 encodes a second thiamine transporter ThTr2.”  Rajgopal A.et.al.   11731220
[5] “SLC19: the folate/thiamine transporter family.”  Ganapathy V.et.al.   14770311
[6] “Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.”  Chen R.et.al.   19159218
[7] “Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.”  Zeng W.-Q.et.al.   15871139
[8] “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.et.al.   11136550
[9] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[10] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[11] “SLC19A3 encodes a second thiamine transporter ThTr2.”  Rajgopal A.et.al.   11731220
[12] “SLC19: the folate/thiamine transporter family.”  Ganapathy V.et.al.   14770311
[13] “Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.”  Chen R.et.al.   19159218
[14] “Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.”  Zeng W.-Q.et.al.   15871139

External Searches:

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  • 2° Structure (Network Protein Sequence Analysis)

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
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