KEGG   Homo sapiens (human): 391356
Entry
391356            CDS       T01001                                 
Symbol
PTRHD1, C2orf79, NEDPBA
Name
(RefSeq) peptidyl-tRNA hydrolase domain containing 1
  KO
K05969  peptidyl-tRNA hydrolase PTRHD1 [EC:3.1.1.29]
Organism
hsa  Homo sapiens (human)
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    391356 (PTRHD1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.1  Carboxylic-ester hydrolases
    3.1.1.29  peptidyl-tRNA hydrolase
     391356 (PTRHD1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Pre-60S particles
   Ribosome quality control proteins
    391356 (PTRHD1)
SSDB
Motif
Pfam: PTH2 CBS SpoIID
Other DBs
NCBI-GeneID: 391356
NCBI-ProteinID: NP_001013685
OMIM: 617342
HGNC: 33782
Ensembl: ENSG00000184924
UniProt: Q6GMV3
LinkDB
Position
2:complement(24789728..24793391)
AA seq 140 aa
MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPAGALVAQACHAATAALH
THRDHPHTAAYLQELGRMRKVVLEAPDETTLKELAETLQQKNIDHMLWLEQPENIATCIA
LRPYPKEEVGQYLKKFRLFK
NT seq 423 nt   +upstreamnt  +downstreamnt
atgcaccggggagtaggtccggcctttcgggtggtcaggaagatggcggcctctggggcg
gagccgcaggtcctggtacaatacttggtgttacgaaaggatctatcacaagctccgttc
tcctggccggcgggcgcactggtagcgcaggcttgtcacgcggccaccgcggccttgcac
actcaccgcgaccacccgcacacagccgcttacctccaagagctggggcgcatgcgcaaa
gtggtcctcgaggccccagatgagaccaccctaaaggagctggccgagaccctgcaacag
aagaacattgaccacatgctgtggcttgagcaaccagagaatatcgccacttgtattgct
ctccggccctaccccaaggaagaagtgggccagtatttgaagaagttccgattgttcaag
taa

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