KEGG   Homo sapiens (human): 114049Help
Entry
114049            CDS       T01001                                 

Gene name
BUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22
Definition
(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 OrthologParalogGFIT
Motif
Pfam: WBS_methylT Methyltransf_11 Methyltransf_25 Methyltransf_23 Methyltransf_31 Methyltransf_12 AdoMet_MTase Methyltransf_32 TehB TPMT
Motif
Other DBs
NCBI-GeneID: 114049
NCBI-ProteinID: NP_059998
OMIM: 615733
HGNC: 16405
Ensembl: ENSG00000071462
Vega: OTTHUMG00000023306
Pharos: O43709(Tbio)
UniProt: O43709
Structure
PDB: 

Position
7q11.23
AA seq 281 aa AA seqDB search
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDI
GCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCI
SISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATK
AGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMS
RRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF
NT seq 846 nt NT seq  +upstreamnt  +downstreamnt
atggcgtcccgcggccggcgtccggagcatggcggacccccagagctgttttatgacgag
acagaagcccggaaatacgttcgcaactcacggatgattgatatccagaccaggatggct
gggcgagcattggagcttctttatctgccagagaataagccctgttacctgctggatatt
ggctgtggcactgggctgagtggaagttatctgtcagatgaagggcactattgggtgggc
ctggatatcagccctgccatgctggatgaggctgtggaccgagagatagagggagacctg
ctgctgggggatatgggccagggcatcccattcaagccaggcacatttgatggttgcatc
agcatttctgctgtgcagtggctctgtaatgctaacaagaagtctgaaaaccctgccaag
cgcctgtactgcttttttgcttctcttttttctgttctcgtccggggatcccgagctgtc
ctgcagctgtaccctgagaactcagagcagttggagctgatcacaacccaggccacaaag
gcaggcttctccggtggcatggtggtagactaccctaacagtgccaaagcaaagaaattc
tacctctgcttgttttctgggccttcgacctttataccagaggggctgagtgaaaatcag
gatgaagttgaacccagggagtctgtgttcaccaatgagaggttcccattaaggatgtcg
aggcggggaatggtgaggaagagtcgggcatgggtgctggagaagaaggagcggcacagg
cgccagggcagggaagtcagacctgacacccagtacaccggccgcaagcgcaagccccgc
ttctaa

DBGET integrated database retrieval system