KEGG   Homo sapiens (human): 80704
Entry
80704             CDS       T01001                                 
Symbol
SLC19A3, BBGD, THMD2, THTR2, hTHTR2, thTr-2
Name
(RefSeq) solute carrier family 19 member 3
  KO
K14610  solute carrier family 19 (thiamine transporter), member 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04977  Vitamin digestion and absorption
Disease
H01231  Biotin-thiamine-responsive basal ganglia disease
H02832  Thiamine metabolism dysfunction syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04977 Vitamin digestion and absorption
    80704 (SLC19A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    80704 (SLC19A3)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC19: Folate/thiamine transporter
   80704 (SLC19A3)
SSDB
Motif
Pfam: Folate_carrier MFS_1 Cadherin_C_2
Other DBs
NCBI-GeneID: 80704
NCBI-ProteinID: NP_079519
OMIM: 606152
HGNC: 16266
Ensembl: ENSG00000135917
UniProt: Q9BZV2
Structure
Position
2:complement(227683763..227718028)
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (15)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (18)   
   RefSeq(nuc) (6)   
   GenBank (6)   
   EMBL (6)   
3D Structure (18)   
   PDB (18)   
Protein domain (3)   
   Pfam (3)   
All databases (64)   

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