Homo sapiens (human): 114049
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Entry
114049 CDS
T01001
Symbol
BUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22
Name
(RefSeq) BUD23 rRNA methyltransferase and ribosome maturation factor
KO
K19306
18S rRNA (guanine1575-N7)-methyltransferase [EC:
2.1.1.309
]
Organism
hsa
Homo sapiens (human)
Disease
H01439
Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03009 Ribosome biogenesis [BR:
hsa03009
]
114049 (BUD23)
Enzymes [BR:
hsa01000
]
2. Transferases
2.1 Transferring one-carbon groups
2.1.1 Methyltransferases
2.1.1.309 18S rRNA (guanine1575-N7)-methyltransferase
114049 (BUD23)
Ribosome biogenesis [BR:
hsa03009
]
Eukaryotic type
Pre-40S particles
Export and cytoplasmic maturation factors
114049 (BUD23)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
WBS_methylT
Methyltransf_11
Methyltransf_25
Methyltransf_12
Methyltransf_31
Methyltransf_23
TehB
AdoMet_MTase
TPMT
Methyltransf_32
Motif
Other DBs
NCBI-GeneID:
114049
NCBI-ProteinID:
NP_059998
OMIM:
615733
HGNC:
16405
Ensembl:
ENSG00000071462
UniProt:
O43709
Structure
PDB
PDBj
LinkDB
All DBs
Position
7:73683597..73698212
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AA seq
281 aa
AA seq
DB search
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDI
GCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCI
SISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATK
AGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMS
RRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF
NT seq
846 nt
NT seq
+upstream
nt +downstream
nt
atggcgtcccgcggccggcgtccggagcatggcggacccccagagctgttttatgacgag
acagaagcccggaaatacgttcgcaactcacggatgattgatatccagaccaggatggct
gggcgagcattggagcttctttatctgccagagaataagccctgttacctgctggatatt
ggctgtggcactgggctgagtggaagttatctgtcagatgaagggcactattgggtgggc
ctggatatcagccctgccatgctggatgaggctgtggaccgagagatagagggagacctg
ctgctgggggatatgggccagggcatcccattcaagccaggcacatttgatggttgcatc
agcatttctgctgtgcagtggctctgtaatgctaacaagaagtctgaaaaccctgccaag
cgcctgtactgcttttttgcttctcttttttctgttctcgtccggggatcccgagctgtc
ctgcagctgtaccctgagaactcagagcagttggagctgatcacaacccaggccacaaag
gcaggcttctccggtggcatggtggtagactaccctaacagtgccaaagcaaagaaattc
tacctctgcttgttttctgggccttcgacctttataccagaggggctgagtgaaaatcag
gatgaagttgaacccagggagtctgtgttcaccaatgagaggttcccattaaggatgtcg
aggcggggaatggtgaggaagagtcgggcatgggtgctggagaagaaggagcggcacagg
cgccagggcagggaagtcagacctgacacccagtacaccggccgcaagcgcaagccccgc
ttctaa
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