KEGG   Homo sapiens (human): 54517
Entry
54517             CDS       T01001                                 
Symbol
PUS7, IDDABS
Name
(RefSeq) pseudouridine synthase 7
  KO
K06176  tRNA pseudouridine13 synthase [EC:5.4.99.27]
Organism
hsa  Homo sapiens (human)
Disease
H02346  Intellectual developmental disorder with short stature
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    54517 (PUS7)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.99  Transferring other groups
    5.4.99.27  tRNA pseudouridine13 synthase
     54517 (PUS7)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Psudouridine synthases
    54517 (PUS7)
 Prokaryotic type
    54517 (PUS7)
SSDB
Motif
Pfam: TruD R3H
Other DBs
NCBI-GeneID: 54517
NCBI-ProteinID: NP_001305093
OMIM: 616261
HGNC: 26033
Ensembl: ENSG00000091127
UniProt: Q96PZ0 B3KY42 B3KRB2
Structure
Position
7:complement(105456501..105522271)
AA seq 661 aa
MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPR
PPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFV
SSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLE
ELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDREGKKYIVAYHAAGKK
ALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITV
QEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQ
QAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVK
CREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQ
SYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIHDVVMPLPGFDVIYPK
HKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFN
TDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWL
R
NT seq 1986 nt   +upstreamnt  +downstreamnt
atggagatgacagaaatgactggtgtgtcgctgaaacgtggggcactggttgtcgaagat
aatgacagtggagtcccagttgaagagacaaaaaaacagaagctgtcggaatgcagtcta
accaaaggtcaagatgggctacagaatgactttctgtccatcagtgaagacgtgcctcgg
cctcctgacactgtcagtactgggaaaggtggaaagaattctgaggctcagttggaagat
gaggaagaagaggaggaagatggactttcagaggagtgcgaggaggaggaatcagagagt
tttgcagacatgatgaagcatggactcactgaggctgacgtaggcatcaccaagtttgtg
agttctcatcaagggttctcgggaatcttaaaagaaagatactccgacttcgttgttcat
gaaataggaaaagatggacggatcagccatttgaatgacttgtccattccagtggatgag
gaggacccttcagaagacatatttacagttttgacagctgaagaaaagcagcgattggaa
gagctccagctgttcaaaaataaggaaaccagtgttgccattgaggttatcgaggacacc
aaagagaaaagaaccatcatccatcaggctatcaaatctctgtttccaggattagagaca
aaaacagaggatagggaggggaagaaatacattgtagcctaccacgcagctgggaaaaag
gctttggcaaatccaagaaaacattcttggccaaaatctaggggaagttactgccacttc
gtactatataaggaaaacaaagacaccatggatgctattaatgtactctccaaatactta
agagtcaagccaaatatattctcctacatgggaaccaaagataaaagggctataacagtt
caagaaattgctgttctcaaaataactgcacaaagacttgcccacctgaataagtgcttg
atgaactttaagctagggaatttcagctatcaaaaaaacccactgaaattgggagagctt
caaggaaaccacttcactgttgttctcagaaatataacaggaactgatgaccaagtacag
caagctatgaactctctcaaggagattggatttattaactactatggaatgcaaagattt
ggaaccacagctgtccctacgtatcaggttggaagagctatactacaaaattcctggaca
gaagtcatggatttaatattgaaaccccgctctggagctgaaaagggctacttggttaaa
tgcagagaagaatgggcaaagaccaaagacccaactgctgccctcagaaaactacctgtc
aaaaggtgtgtggaagggcagctgcttcgaggactttcaaaatatggaatgaagaatata
gtctctgcatttggcataatacccagaaataatcgcttaatgtatattcatagctaccaa
agctatgtgtggaataacatggtaagcaagaggatagaagactatggactaaaacctgtt
ccaggggacctcgttctcaaaggagccacagccacctatattgaggaagatgatgttaat
aattactctatccatgatgtggtaatgcccttgcctggtttcgatgttatctacccaaag
cataaaattcaagaagcctacagggaaatgctcacagctgacaatcttgatattgacaac
atgagacacaaaattcgagattattccttgtcaggggcctaccgaaagatcattattcgt
cctcagaatgttagctgggaagtcgttgcatatgatgatcccaaaattccacttttcaac
acagatgtggacaacctagaagggaagacaccaccagtttttgcttctgaaggcaaatac
agggctctgaaaatggatttttctctacccccttctacttacgccaccatggccattcga
gaagtgctaaaaatggataccagtatcaagaaccagacgcagctgaatacaacctggctt
cgctga

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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 (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (19)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (31)   
   RefSeq(nuc) (15)   
   GenBank (8)   
   EMBL (8)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (75)   

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