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|---|---|
| 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(1+) |
Cross database links:
| 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
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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 | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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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