KEGG   Homo sapiens (human): 60386
Entry
60386             CDS       T01001                                 
Symbol
SLC25A19, DNC, MCPHA, MTPPT, MUP1, THMD3, THMD4, TPC
Name
(RefSeq) solute carrier family 25 member 19
  KO
K15108  solute carrier family 25 (mitochondrial thiamine pyrophosphate transporter), member 19
Organism
hsa  Homo sapiens (human)
Disease
H00990  Microcephaly, Amish type
H02832  Thiamine metabolism dysfunction syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    60386 (SLC25A19)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   60386 (SLC25A19)
SSDB
Motif
Pfam: Mito_carr
Other DBs
NCBI-GeneID: 60386
NCBI-ProteinID: NP_001119593
OMIM: 606521
HGNC: 14409
Ensembl: ENSG00000125454
UniProt: Q9HC21 Q5JPC1
Position
17:complement(75272992..75289433)
AA seq 320 aa
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYH
GILQASRQILQEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSV
HFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAP
TLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMF
FSYEFFCNVFHCMNRTASQR
NT seq 963 nt   +upstreamnt  +downstreamnt
atggttggctatgaccccaaaccagatggcaggaataacaccaagttccaggtggcagtg
gctgggtctgtgtctggacttgttactcgggcgctgatcagtcccttcgacgtcatcaag
atccgtttccagcttcagcatgagcgcctgtctcgcagtgaccccagcgcaaagtaccat
ggcatcctccaggcctctaggcagattctgcaggaggagggtccgacagctttctggaaa
ggacacgtcccagctcagattctctccataggctatggagctgtccaattcttgtcattt
gaaatgctgacggagctggtccacagaggcagcgtgtatgacgcccgggaattctcagtg
cactttgtatgtggtggcctggctgcctgtatggccaccctcactgtgcaccccgtggat
gttctgcgcacccgctttgcagctcagggtgagcccaaggtctataatacgctgcgccac
gccgtggggaccatgtataggagcgaaggcccccaggttttctacaaaggcttggctccc
accttgatcgccatcttcccctacgccgggctgcagttctcttgctacagctccttgaag
cacctgtacaagtgggccataccagccgaaggaaagaaaaatgagaacctccaaaacctg
ctttgtggcagtggagctggtgtcatcagcaagaccctgacatatccgctggacctcttc
aagaagcggctacaggttggagggtttgagcatgccagagctgcctttggccaggtacgg
agatacaagggcctcatggactgtgccaagcaggtgctgcaaaaggaaggcgccctgggc
ttcttcaagggcctgtcccccagcttgctgaaggctgccctctccacaggcttcatgttc
ttctcgtatgaattcttctgtaatgtcttccactgcatgaacaggacagccagccagcgc
tga

  All links  
Disease (3)   
   OMIM (3)   
Gene (11)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (24)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (21)   
DNA sequence (51)   
   RefSeq(nuc) (21)   
   GenBank (15)   
   EMBL (15)   
Protein domain (1)   
   Pfam (1)   
All databases (90)   

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