KEGG   Homo sapiens (human): 6901
Entry
6901              CDS       T01001                                 
Symbol
TAFAZZIN, BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1
Name
(RefSeq) tafazzin isoform 2
  KO
K13511  monolysocardiolipin acyltransferase [EC:2.3.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00564  Glycerophospholipid metabolism
Disease
H00654  Barth syndrome
H00754  3-Methylglutaconic aciduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00564 Glycerophospholipid metabolism
    6901 (TAFAZZIN)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01004 Lipid biosynthesis proteins [BR:hsa01004]
    6901 (TAFAZZIN)
Lipid biosynthesis proteins [BR:hsa01004]
 Phospholipid acyltransferase
  LPAAT/LPLAT
   6901 (TAFAZZIN)
SSDB
Motif
Pfam: Acyltransferase DmpG_comm Borrelia_P83
Other DBs
NCBI-GeneID: 6901
NCBI-ProteinID: NP_851828
OMIM: 300394
HGNC: 11577
UniProt: Q16635 A0A0S2Z4E6
Position
X:154411539..154421726
AA seq 262 aa
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPA
TPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVP
VCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIIL
PLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFI
QEEFQHLKTQAEQLHNHLQPGR
NT seq 789 nt   +upstreamnt  +downstreamnt
atgcctctgcacgtgaagtggccgttccccgcggtgccgccgctcacctggaccctggcc
agcagcgtcgtcatgggcttggtgggcacctacagctgcttctggaccaagtacatgaac
cacctgaccgtgcacaacagggaggtgctgtacgagctcatcgagaagcgaggcccggcc
acgcccctcatcaccgtgtccaatcaccagtcctgcatggacgaccctcatctctggggg
atcctgaaactccgccacatctggaacctgaagttgatgcgttggacccctgcagctgca
gacatctgcttcaccaaggagctacactcccacttcttcagcttgggcaagtgtgtgcct
gtgtgccgaggagatggcgtctaccagaaggggatggacttcattttggagaagctcaac
catggggactgggtgcatatcttcccagaagggaaagtgaacatgagttccgaattcctg
cgtttcaagtggggaatcgggcgcctgattgctgagtgtcatctcaaccccatcatcctg
cccctgtggcatgtcggaatgaatgacgtccttcctaacagtccgccctacttcccccgc
tttggacagaaaatcactgtgctgatcgggaagcccttcagtgccctgcctgtactcgag
cggctccgggcggagaacaagtcggctgtggagatgcggaaagccctgacggacttcatt
caagaggaattccagcatctgaagactcaggcagagcagctccacaaccacctccagcct
gggagatag

  All links  
Disease (2)   
   OMIM (2)   
Gene (11)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (26)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (23)   
DNA sequence (79)   
   RefSeq(nuc) (25)   
   GenBank (27)   
   EMBL (27)   
Protein domain (3)   
   Pfam (3)   
All databases (121)   

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