KEGG   Homo sapiens (human): 24140
Entry
24140             CDS       T01001                                 
Symbol
FTSJ1, CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7, XLID9
Name
(RefSeq) FtsJ RNA 2'-O-methyltransferase 1
  KO
K14864  tRNA (cytidine32/guanosine34-2'-O)-methyltransferase [EC:2.1.1.205]
Organism
hsa  Homo sapiens (human)
Disease
H00480  X-linked intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    24140 (FTSJ1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.205  tRNA (cytidine32/guanosine34-2'-O)-methyltransferase
     24140 (FTSJ1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Methyltransferases
    24140 (FTSJ1)
SSDB
Motif
Pfam: FtsJ Ubie_methyltran Methyltr_RsmB-F
Other DBs
NCBI-GeneID: 24140
NCBI-ProteinID: NP_036412
OMIM: 300499
HGNC: 13254
Ensembl: ENSG00000068438
UniProt: Q9UET6 A0A024QYX5
Position
X:48476021..48486364
AA seq 329 aa
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLS
QKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPD
VTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCA
KPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRV
DTFPQPLAAPQCHTLLAPEMEDNEMSCSP
NT seq 990 nt   +upstreamnt  +downstreamnt
atgggacggacgtcaaaggacaagcgggatgtctactaccgcctggccaaggagaatggc
tggcgtgctcgcagcgccttcaaactgctacaactggataaggaattccaactcttccaa
ggcgtgacacgggcagttgacctgtgtgcagccccaggcagctggagccaggtgctgagc
cagaagatcgggggccaagggtccggccacgtggtggctgtggacctgcaggctatggct
ccactaccaggtgtggtacagatccagggggacatcacccagctgtccactgccaaggag
atcatccagcactttaagggctgccctgcggacctagtggtgtgtgacggggctcctgat
gtaaccggtctccatgatgttgatgagtatatgcaggcccagctcctcctagctgctctg
aacattgctacacatgtcctgaagccagggggctgctttgtggccaagatattccgaggc
cgggatgtgacgctcctctacagccagctgcaggtcttcttctccagcgtgctgtgtgcc
aagcccaggagcagccggaactctagcatcgaggccttcgctgtctgtcagggctatgac
cctcccgagggcttcatcccggacctgagcaaacccctgctggaccattcttacgaccca
gatttcaaccagctggatggtcccacccgcatcattgtgccttttgtgacctgtggggac
ctgagctcctatgattcggaccgcagttacccactggacctagagggcggctcagagtac
aagtacactccacccacacagccccccatctcgccaccataccaggaggcctgcacgttg
aagaggaaggggcagctggccaaggagatccgcccccaggactgccccatcagcagagtg
gacacgtttccccagcccctggccgcccctcagtgccacaccctgctggcccctgagatg
gaagacaatgaaatgagttgttcaccttaa

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