KEGG   Homo sapiens (human): 87178
Entry
87178             CDS       T01001                                 
Symbol
PNPT1, COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35
Name
(RefSeq) polyribonucleotide nucleotidyltransferase 1
  KO
K00962  polyribonucleotide nucleotidyltransferase [EC:2.7.7.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03018  RNA degradation
Disease
H00605  Deafness, autosomal recessive
H00891  Combined oxidative phosphorylation deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   03018 RNA degradation
    87178 (PNPT1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    87178 (PNPT1)
   03016 Transfer RNA biogenesis [BR:hsa03016]
    87178 (PNPT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.8  polyribonucleotide nucleotidyltransferase
     87178 (PNPT1)
Messenger RNA biogenesis [BR:hsa03019]
 Prokaryotic type
  Bacterial mRNA degradation factors
   RNA degradosome components
    Other RNA degradosome components
     87178 (PNPT1)
Transfer RNA biogenesis [BR:hsa03016]
 Prokaryotic type
  tRNA degradation factors
   87178 (PNPT1)
SSDB
Motif
Pfam: RNase_PH RNase_PH_C KH_1 PNPase S1
Other DBs
NCBI-GeneID: 87178
NCBI-ProteinID: NP_149100
OMIM: 610316
HGNC: 23166
Ensembl: ENSG00000138035
UniProt: Q8TCS8
Structure
Position
2:complement(55634061..55693844)
AA seq 783 aa
MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISS
GKLARFADGSAVVQSGDTAVMVTAVSKTKPSPSQFMPLVVDYRQKAAAAGRIPTNYLRRE
IGTSDKEILTSRIIDRSIRPLFPAGYFYDTQVLCNLLAVDGVNEPDVLAINGASVALSLS
DIPWNGPVGAVRIGIIDGEYVVNPTRKEMSSSTLNLVVAGAPKSQIVMLEASAENILQQD
FCHAIKVGVKYTQQIIQGIQQLVKETGVTKRTPQKLFTPSPEIVKYTHKLAMERLYAVFT
DYEHDKVSRDEAVNKIRLDTEEQLKEKFPEADPYEIIESFNVVAKEVFRSIVLNEYKRCD
GRDLTSLRNVSCEVDMFKTLHGSALFQRGQTQVLCTVTFDSLESGIKSDQVITAINGIKD
KNFMLHYEFPPYATNEIGKVTGLNRRELGHGALAEKALYPVIPRDFPFTIRVTSEVLESN
GSSSMASACGGSLALMDSGVPISSAVAGVAIGLVTKTDPEKGEIEDYRLLTDILGIEDYN
GDMDFKIAGTNKGITALQADIKLPGIPIKIVMEAIQQASVAKKEILQIMNKTISKPRASR
KENGPVVETVQVPLSKRAKFVGPGGYNLKKLQAETGVTISQVDEETFSVFAPTPSAMHEA
RDFITEICKDDQEQQLEFGAVYTATITEIRDTGVMVKLYPNMTAVLLHNTQLDQRKIKHP
TALGLEVGQEIQVKYFGRDPADGRMRLSRKVLQSPATTVVRTLNDRSSIVMGEPISQSSS
NSQ
NT seq 2352 nt   +upstreamnt  +downstreamnt
atggcggcctgcaggtactgctgctcgtgcctccggctccggcccctgagcgatggtcct
ttccttctgccacggcgggatcgggcactcacccagttgcaagtgcgagcactatggagt
agcgcagggtctcgagctgtggccgtggacttaggcaacaggaaattagaaatatcttct
ggaaagctggccagatttgcagatggctctgctgtagtacagtcaggtgacactgcagta
atggtcacagcggtcagtaaaacaaaaccttccccttcccagtttatgcctttggtggtt
gactacagacaaaaagctgctgcagcaggtagaattcccacaaactatctgagaagagag
attggtacttctgataaagaaattctaacaagtcgaataatagatcgttcaattagaccg
ctctttccagctggctacttctatgatacacaggttctgtgtaatctgttagcagtagat
ggtgtaaatgagcctgatgtcctagcaattaatggcgcttccgtagccctctcattatca
gatattccttggaatggacctgttggggcagtacgaataggaataattgatggagaatat
gttgttaacccaacaagaaaagaaatgtcttctagtactttaaatttagtggttgctgga
gcacctaaaagtcagattgtcatgttggaagcctctgcagagaacattttacagcaggac
ttttgccatgctatcaaagtgggagtgaaatatacccaacaaataattcagggcattcag
cagttggtaaaagaaactggtgttaccaagaggacacctcagaagttatttaccccttcg
ccagagattgtgaaatatactcataaacttgctatggagagactctatgcagtttttaca
gattacgagcatgacaaagtttccagagatgaagctgttaacaaaataagattagatacg
gaggaacaactaaaagaaaaatttccagaagccgatccatatgaaataatagaatccttc
aatgttgttgcaaaggaagtttttagaagtattgttttgaatgaatacaaaaggtgcgat
ggtcgggatttgacttcacttaggaatgtaagttgtgaggtagatatgtttaaaaccctt
catggatcagcattatttcaaagaggacaaacacaggtgctttgtaccgttacatttgat
tcattagaatctggtattaagtcagatcaagttataacagctataaatgggataaaagat
aaaaatttcatgctgcactacgagtttcctccttatgcaactaatgaaattggcaaagtc
actggtttaaatagaagagaacttgggcatggtgctcttgctgagaaagctttgtatcct
gttattccccgagattttcctttcaccataagagttacatctgaagtcctagagtcaaat
gggtcatcttctatggcatctgcatgtggcggaagtttagcattaatggattcaggggtt
ccaatttcatctgctgttgcaggcgtagcaataggattggtcaccaaaaccgatcctgag
aagggtgaaatagaagattatcgtttgctgacagatattttgggaattgaagattacaat
ggtgacatggacttcaaaatagctggcactaataaaggaataactgcattacaggctgat
attaaattacctggaataccaataaaaattgtgatggaggctattcaacaagcttcagtg
gcaaaaaaggagatattacagatcatgaacaaaactatttcaaaacctcgagcatctaga
aaagaaaatggacctgttgtagaaactgttcaggttccattatcaaaacgagcaaaattt
gttggacctggtggctataacttaaaaaaacttcaggctgaaacaggtgtaactattagt
caggtggatgaagaaacgttttctgtatttgcaccaacacccagtgctatgcatgaggca
agagacttcattactgaaatctgcaaggatgatcaggagcagcaattagaatttggagca
gtatataccgccacaataactgaaatcagagatactggtgtaatggtaaaattatatcca
aatatgactgcggtactgcttcataacacacaacttgatcaacgaaagattaaacatcct
actgccctaggattagaagttggccaagaaattcaggtgaaatactttggacgtgaccca
gccgatggaagaatgaggctttctcgaaaagtgcttcagtcgccagctacaaccgtggtc
agaactttgaatgacagaagtagtattgtaatgggagaacctatttcacagtcatcatct
aattctcagtga

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (31)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (21)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (35)   
   RefSeq(nuc) (7)   
   GenBank (14)   
   EMBL (14)   
3D Structure (2)   
   PDB (2)   
Protein domain (5)   
   Pfam (5)   
All databases (95)   

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