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
H00063  Spinocerebellar ataxia (SCA)
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 KH-I_KHDC4-BBP
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (30)   
   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 (4)   
   PDB (4)   
Protein domain (6)   
   Pfam (6)   
All databases (88)   

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