KEGG   Homo sapiens (human): 80324
Entry
80324             CDS       T01001                                 
Symbol
PUS1, MLASA1
Name
(RefSeq) pseudouridine synthase 1
  KO
K06173  tRNA pseudouridine38-40 synthase [EC:5.4.99.12]
Organism
hsa  Homo sapiens (human)
Disease
H00898  Myopathy with lactic acidosis and sideroblastic anaemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    80324 (PUS1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.99  Transferring other groups
    5.4.99.12  tRNA pseudouridine38-40 synthase
     80324 (PUS1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Psudouridine synthases
    80324 (PUS1)
 Prokaryotic type
    80324 (PUS1)
SSDB
Motif
Pfam: PseudoU_synth_1
Other DBs
NCBI-GeneID: 80324
NCBI-ProteinID: NP_079491
OMIM: 608109
HGNC: 15508
Ensembl: ENSG00000177192
UniProt: Q9Y606 E5KMT5
Structure
Position
12:131929276..131945896
AA seq 427 aa
MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWE
DGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSAL
VRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRI
LGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYK
GTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGL
VVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQ
EEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGS
EGDGDTD
NT seq 1284 nt   +upstreamnt  +downstreamnt
atgggcctccagcttcgcgcgctgttgggagccttcggacggtggaccctgcgcctggga
ccgcgtccgtcctgctcgccgcgcatggccgggaacgcggagccgccgcccgccggagcc
gcatgcccccaggaccggaggtcctgcagcggccgggccgggggcgaccgcgtctgggag
gacggagaacatccggcgaagaagctcaagagcggtggcgacgaggagcggcgcgagaag
ccgcccaagcggaagatcgtgctgctcatggcctattcgggcaagggctaccacggcatg
cagaggaatgtcgggtcctcacaattcaaaacaattgaagatgacttggtgtccgccctc
gtccggtcaggctgtattcctgaaaatcatggtgaggacatgaggaaaatgtccttccag
cgctgcgcccggacagacaagggtgtgtccgcagccggccaggtggtatccctgaaggtg
tggctgattgacgacattctagaaaagatcaacagccaccttccctctcacattcggatt
ctgggactgaagcgggtcacgggcgggtttaactccaagaacagatgtgatgccaggacc
tattgctacctgctgcccacgtttgcctttgcgcacaaggaccgggacgttcaggatgag
acctaccgcctgagcgccgagacgctgcagcaggtcaacaggctcctggcctgctacaag
ggcacgcacaacttccacaatttcacctcgcagaaggggccgcaggatcccagtgcctgc
cgctacatcctggagatgtactgcgaggaaccctttgtgcgggagggcctggagtttgcg
gtgatcagggtgaagggccagagcttcatgatgcatcagatccggaagatggtcggcctg
gtggtggccattgtgaagggttatgcccctgagagcgtgctggagcgcagctggggcaca
gagaaggtggacgtgcccaaggcgcccggactcggcctggtcctggagagggtgcacttc
gagaagtacaaccagcgctttggcaacgatgggctgcatgagccgctggactgggcgcag
gaggaaggaaaggtcgcagccttcaaggaggagcacatctaccccaccatcatcggcacc
gagcgggacgaacgctccatggcccagtggctgagcaccttgcccatccacaacttcagt
gccaccgctctcacggcaggtggcacgggcgccaaggtgcccagtcccctggaaggcagt
gaaggggacggagacactgactga

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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 (29)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (31)   
   RefSeq(nuc) (3)   
   GenBank (14)   
   EMBL (14)   
3D Structure (5)   
   PDB (5)   
Protein domain (1)   
   Pfam (1)   
All databases (80)   

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