KEGG   Homo sapiens (human): 83480
Entry
83480             CDS       T01001                                 
Symbol
PUS3, 2610020J05Rik, DEG1, FKSG32, MRT55, NEDMIGS
Name
(RefSeq) pseudouridine synthase 3
  KO
K01855  tRNA pseudouridine38/39 synthase [EC:5.4.99.45]
Organism
hsa  Homo sapiens (human)
Disease
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    83480 (PUS3)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.99  Transferring other groups
    5.4.99.45  tRNA pseudouridine38/39 synthase
     83480 (PUS3)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Psudouridine synthases
    83480 (PUS3)
SSDB
Motif
Pfam: PseudoU_synth_1 HXXSHH
Other DBs
NCBI-GeneID: 83480
NCBI-ProteinID: NP_112597
OMIM: 616283
HGNC: 25461
Ensembl: ENSG00000110060
UniProt: Q9BZE2
Position
11:complement(125893485..125903206)
AA seq 481 aa
MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAH
GRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKG
VSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPV
EPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRT
ILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIID
ELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTH
MLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKC
QGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSI
I
NT seq 1446 nt   +upstreamnt  +downstreamnt
atggcttataatgacacagacagaaaccagactgagaagctcctaaaaagagtacgagaa
ctggagcaagaggtgcaaagacttaaaaaggaacaggccaaaaataaggaggactcaaac
attagagaaaattcagcaggagctggaaaaactaagcgtgcatttgatttcagtgctcat
ggccgaagacacgtagccctaagaatagcctatatgggctggggataccagggctttgct
agtcaggaaaacacaaataataccattgaagagaaactgtttgaagctctaaccaagact
cgactagtagaaagcagacagacatccaactatcaccgatgtgggagaacagataaagga
gttagtgcctttggacaggtgatctcacttgaccttcgctctcagtttccaaggggcagg
gattccgaggactttaatgtaaaagaggaggctaatgctgctgctgaagagatccgttat
acccacattctcaatcgggtactccctccagacatccgtatattggcctgggcccctgta
gaaccaagcttcagtgctaggttcagctgccttgagcggacttaccgctattttttccct
cgtgctgatttagatattgtaaccatggattatgcagctcagaagtatgttggcacccat
gatttcaggaacttgtgtaaaatggatgtagccaacggtgtgattaattttcagaggact
attctatctgctcaagtacagctagtgggccagagcccaggtgaggggagatggcaagaa
cctttccagttatgtcagtttgaagtgactggccaggcattcctttatcatcaagtccga
tgtatgatggctatcctctttctgattggccaaggaatggagaagccagagattattgat
gagctgctgaatatagagaaaaatccccaaaagcctcaatatagtatggctgtagaattt
cctctagtcttatatgactgtaagtttgaaaatgtcaagtggatctatgaccaggaggct
caggagttcaatattacccacctacaacaactgtgggctaatcatgctgtcaaaactcac
atgttgtatagtatgctacaaggactggacactgttccagtaccctgtggaataggacca
aagatggatggaatgacagaatggggaaatgttaagccctctgtcataaagcagaccagt
gcctttgtagaaggagtgaagatgcgcacatataagcccctcatggaccgtcctaaatgc
caaggactggaatcccggatccagcattttgtacgtaggggacgaattgagcacccacat
ttattccatgaggaagaaacaaaagccaaaagggactgtaatgacacactagaggaagag
aatactaatttggagacaccaacgaagagggtctgtgttgacacagaaattaaaagcatc
atttaa

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Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (19)   
   RefSeq(nuc) (3)   
   GenBank (8)   
   EMBL (8)   
Protein domain (2)   
   Pfam (2)   
All databases (48)   

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