KEGG   Homo sapiens (human): 113278
Entry
113278            CDS       T01001                                 
Symbol
SLC52A3, BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2
Name
(RefSeq) solute carrier family 52 member 3
  KO
K14620  riboflavin transporter 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04977  Vitamin digestion and absorption
Disease
H00841  Infantile progressive bulbar palsy
H01903  Brown-Vialetto-Van Laere syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04977 Vitamin digestion and absorption
    113278 (SLC52A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    113278 (SLC52A3)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC52: Riboflavin transporter
   113278 (SLC52A3)
SSDB
Motif
Pfam: SLC52_ribofla_tr
Other DBs
NCBI-GeneID: 113278
NCBI-ProteinID: NP_212134
OMIM: 613350
HGNC: 16187
Ensembl: ENSG00000101276
UniProt: Q9NQ40
Position
20:complement(760080..780033)
AA seq 469 aa
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTL
LHHFRPSCLSEVPIIFTLLGVGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDC
TSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQGSGLTTCVNVTEISDSVPSPV
PTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHL
AFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSL
LFLGVLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIVASWVLFSGCLSYVKVMLGVV
LRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA
NT seq 1410 nt   +upstreamnt  +downstreamnt
atggccttcctgatgcacctgctggtctgcgtcttcggaatgggctcctgggtgaccatc
aatgggctctgggtagagctgcccctgctggtgatggagctgcccgagggctggtacctg
ccctcctacctcacggtggtcatccagctggccaacatcgggcccctcctggtcaccctg
ctccatcacttccggcccagctgcctttccgaagtgcccatcatcttcaccctgctgggc
gtgggaaccgtcacctgcatcatctttgccttcctctggaatatgacctcctgggtgctg
gacggccaccacagcatcgccttcttggtcctcaccttcttcctggccctggtggactgc
acctcttcagtgaccttcctgccgttcatgagccggctgcccacctactacctcaccacc
ttctttgtgggtgaaggactcagcggcctcttgcccgccctggtggctcttgcccagggc
tccggtctcactacctgcgtcaatgtcactgagatatcagacagcgtaccaagccctgta
cccacgagggagactgacatcgcacagggagttcccagagctttggtgtccgccctcccc
ggaatggaagcacccttgtcccacctggagagccgctaccttcccgcccacttctcaccc
ctggtcttcttcctcctcctatccatcatgatggcctgctgcctcgtggcgttctttgtc
ctccagcgtcaacccaggtgctgggaggcttccgtggaagacctcctcaatgaccaggtc
accctccactccatccggccgcgggaagagaatgacttgggccctgcaggcacggtggac
agcagccagggccaggggtatctagaggagaaagcagccccctgctgcccggcgcacctg
gccttcatctataccctggtggccttcgtcaacgcgctcaccaacggcatgctgccctct
gtgcagacctactcctgcctgtcctatgggccagttgcctaccacctggctgccaccctc
agcattgtggccaaccctcttgcctcgttggtctccatgttcctgcctaacaggtctctg
ctgttcctgggggtcctctccgtgcttgggacctgctttgggggctacaacatggccatg
gcggtgatgagcccctgccccctcttgcagggccactggggtggggaagtcctcattgtg
gcctcgtgggtgcttttcagcggctgcctcagttacgtcaaggtgatgctgggcgtggtc
ctgcgcgacctcagccgcagcgccctcttgtggtgcggggcggcggtgcagctgggctcg
ctgctcggagcgctgctcatgttccctctggtcaacgtgctgcggctcttctcgtccgcg
gacttctgcaatctgcactgtccagcctag

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