| Entry |
|
| Gene name |
SLC19A3, BBGD, THMD2, THTR2
|
| Definition |
solute carrier family 19, member 3
|
| Orthology |
| solute carrier family 19 (thiamine transporter), member 2/3 |
|
| Organism |
|
| Pathway |
| Vitamin digestion and absorption |
|
| Disease |
| Biotin-responsive basal ganglia disease (BBGD) |
|
| Class |
Organismal Systems; Digestive system; Vitamin digestion and absorption [PATH: hsa04977]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
2q37
|
| AA seq |
496 aa  
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWT
YSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAE
VAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASV
SVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILST
SGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQ
ILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSL
FLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTI
MTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPD
VSHPEEESNIIMSTKL |
| NT seq |
1491 nt  +upstreamnt +downstreamnt
atggattgttacagaacttcactaagcagttcctggatttaccccactgtgatcctctgc
ttatttggttttttctccatgatgagaccctcagaaccattccttatcccatatttatct
ggaccagataaaaacctgaccagtgcagagataacaaatgagatcttccccgtttggaca
tactcctacctggtgctgctgctgcctgtgtttgtcctcaccgattatgtccgctacaag
ccagtcatcatcttgcaaggtatcagtttcatcattacctggctgctgctgttgtttggc
caaggagtgaagaccatgcaggttgtagagttcttctatgggatggtcaccgccgccgag
gtggcctactacgcctacatatacagcgtggtcagccccgagcactaccagagagtgagc
ggctactgcaggagcgtcacgctggccgcctacacagcagggtcggtgctggctcaactc
ttggtatccctggcgaacatgtcgtacttttacctcaacgtcatatccttggcctctgtc
tccgtggctttccttttctcacttttcctaccaatgcccaagaaaagcatgttttttcat
gcaaaacccagcagagaaataaagaagtcatcaagcgtgaatccagtattagaggaaact
cacgaaggtgaagcaccaggctgtgaagagcagaaacccacatcagaaatactcagcact
tcagggaagctgaataagggccagctgaacagcctgaaaccaagcaatgtgactgtggac
gtttttgtgcagtggttccaagatttgaaggagtgctactcctcaaaacgtcttttctac
tggtctctatggtgggctttcgccacagcaggttttaaccaggttttgaactatgttcaa
atcctgtgggattacaaggcgccatcccaagattcttccatctataatggggccgtagaa
gctattgcaacctttggaggggctgtggctgcctttgcagtgggttatgtgaaagtcaac
tgggaccttctgggagagctggctctggtggtcttctcagttgtcaatgccggttcttta
tttctcatgcattacacagccaatatctgggcgtgctatgctggctatttgatattcaag
tccagctatatgcttcttataaccatagcagtatttcagattgcagttaatctgaatgtg
gaacgctatgccttggtatttggaatcaacacctttattgccttggtgattcagaccatc
atgactgtgattgtagtagatcagagagggctcaacttgccagtcagcattcagttttta
gtttatgggagctattttgcagtaattgctggaattttcctaatgagaagcatgtatatt
acctactcaaccaaatcccagaaggatgtacagagccctgctccaagtgagaatccagat
gtgtctcacccagaggaagagagtaatatcatcatgtcaacaaaactctaa |