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2.A.48.1.2
Thiamine uptake transporter-1, THTR-1, the thiamine-responsive megaloblastic anemia (TRMA) protein (Manimaran et al. 2016). Downregulated in Chronic Kidney Disease (CKD) in heart, liver, and brain causing malabsorption (Bukhari et al., 2011).

Accession Number:O60779
Protein Name:THT1 aka THTR-1 aka SLC19A2 aka TRMA
Length:497
Molecular Weight:55400.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Thiamine

Cross database links:

Genevestigator: O60779 O60779
eggNOG: prNOG19004 NOG241030
RefSeq: NP_008927.1   
Entrez Gene ID: 10560   
Pfam: PF01770   
OMIM: 249270  phenotype
603941  gene
KEGG: hsa:10560    hsa:10560   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005542 F:folic acid binding
GO:0008517 F:folic acid transporter activity
GO:0008518 F:reduced folate carrier activity
GO:0015234 F:thiamin transmembrane transporter activity
GO:0042723 P:thiamin and derivative metabolic process
GO:0015888 P:thiamin transport
GO:0005886 C:plasma membrane
GO:0015403 F:thiamine uptake transmembrane transporter activity
GO:0042723 P:thiamine-containing compound metabolic process

References (18)

[1] “Cloning of the human thiamine transporter, a member of the folate transporter family.”  Dutta B.et.al.   10542220
[2] “Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.”  Labay V.et.al.   10391221
[3] “The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.”  Fleming J.C.et.al.   10391222
[4] “Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.”  Diaz G.A.et.al.   10391223
[5] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[6] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[7] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[8] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[9] “The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.”  Raz T.et.al.   10874303
[10] “Cloning of the human thiamine transporter, a member of the folate transporter family.”  Dutta B.et.al.   10542220
[11] “Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.”  Labay V.et.al.   10391221
[12] “The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.”  Fleming J.C.et.al.   10391222
[13] “Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.”  Diaz G.A.et.al.   10391223
[14] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[15] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[16] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[17] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[18] “The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.”  Raz T.et.al.   10874303

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FASTA formatted sequence
1:	MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP 
61:	DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV VLLQGLSLIV TWFMLLYAQG 
121:	LLAIQFLEFF YGIATATEIA YYSYIYSVVD LGMYQKVTSY CRSATLVGFT VGSVLGQILV 
181:	SVAGWSLFSL NVISLTCVSV AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD 
241:	TPASNHLPGW EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV 
301:	WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA VGYIKISWST 
361:	WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY MLLITIATFQ IAANLSMERY 
421:	ALVFGVNTFI ALALQTLLTL IVVDASGLGL EITTQFLIYA SYFALIAVVF LASGAVSVMK 
481:	KCRKLEDPQS SSQVTTS