Human Gene SLC19A2 (ENST00000236137.10) from GENCODE V44
Description: Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA. (from RefSeq NM_006996) RefSeq Summary (NM_006996): This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. Gencode Transcript: ENST00000236137.10 Gencode Gene: ENSG00000117479.15 Transcript (Including UTRs) Position: hg38 chr1:169,463,909-169,485,944 Size: 22,036 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr1:169,465,849-169,485,766 Size: 19,918 Coding Exon Count: 6
ID:S19A2_HUMAN DESCRIPTION: RecName: Full=Thiamine transporter 1; Short=ThTr-1; Short=ThTr1; AltName: Full=Solute carrier family 19 member 2; AltName: Full=Thiamine carrier 1; Short=TC1; FUNCTION: High-affinity transporter for the intake of thiamine. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. DISEASE: Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus. SIMILARITY: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. SEQUENCE CAUTION: Sequence=BAG64936.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC19A2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60779
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0015884 folic acid transport GO:0015888 thiamine transport GO:0042723 thiamine-containing compound metabolic process GO:0051180 vitamin transport GO:0071934 thiamine transmembrane transport
AJ237724 - Homo sapiens mRNA for thiamine transporter (THTR-1), partial. AF160812 - Homo sapiens thiamine transporter 1 (THT1) mRNA, complete cds. AF153330 - Homo sapiens thiamine carrier 1 (TC1) mRNA, complete cds. AF135488 - Homo sapiens high affinity thiamine transporter mRNA, complete cds. BC018514 - Homo sapiens solute carrier family 19 (thiamine transporter), member 2, mRNA (cDNA clone MGC:17044 IMAGE:3872233), complete cds. AK316465 - Homo sapiens cDNA, FLJ79364 complete cds, highly similar to Thiamine transporter 1. AK304021 - Homo sapiens cDNA FLJ52425 complete cds, highly similar to Thiamine transporter 1. AF272359 - Homo sapiens thiamine transporter 1 mRNA, complete cds. AK313779 - Homo sapiens cDNA, FLJ94386, Homo sapiens solute carrier family 19 (thiamine transporter),member 2 (SLC19A2), mRNA. KJ902129 - Synthetic construct Homo sapiens clone ccsbBroadEn_11523 SLC19A2 gene, encodes complete protein. KR709708 - Synthetic construct Homo sapiens clone CCSBHm_00005309 SLC19A2 (SLC19A2) mRNA, encodes complete protein. KU178534 - Homo sapiens solute carrier family 19 member 2 isoform 1 (SLC19A2) mRNA, partial cds, alternatively spliced. KU178535 - Homo sapiens solute carrier family 19 member 2 isoform 2 (SLC19A2) mRNA, partial cds. AB209540 - Homo sapiens mRNA for solute carrier family 19, member 2 variant protein. JD046944 - Sequence 27968 from Patent EP1572962. JD504336 - Sequence 485360 from Patent EP1572962. JD236236 - Sequence 217260 from Patent EP1572962. JD245200 - Sequence 226224 from Patent EP1572962. JD469319 - Sequence 450343 from Patent EP1572962. JD145956 - Sequence 126980 from Patent EP1572962. JD061661 - Sequence 42685 from Patent EP1572962. JD244370 - Sequence 225394 from Patent EP1572962. JD206536 - Sequence 187560 from Patent EP1572962. JD284655 - Sequence 265679 from Patent EP1572962. JD068559 - Sequence 49583 from Patent EP1572962. JD269190 - Sequence 250214 from Patent EP1572962. JD047037 - Sequence 28061 from Patent EP1572962. JD286131 - Sequence 267155 from Patent EP1572962. JD504029 - Sequence 485053 from Patent EP1572962. JD279126 - Sequence 260150 from Patent EP1572962. JD324048 - Sequence 305072 from Patent EP1572962. JD310601 - Sequence 291625 from Patent EP1572962. DQ600545 - Homo sapiens piRNA piR-38611, complete sequence. JD462281 - Sequence 443305 from Patent EP1572962. JD348630 - Sequence 329654 from Patent EP1572962. JD385458 - Sequence 366482 from Patent EP1572962. JD544457 - Sequence 525481 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O60779 (Reactome details) participates in the following event(s):
R-HSA-199626 SLC19A2/3 transport extracellular THMN to cytosol R-HSA-196819 Vitamin B1 (thiamin) metabolism R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism