KEGG   Homo sapiens (human): 11284
Entry
11284             CDS       T01001                                 
Symbol
PNKP, AOA4, CMT2B2, EIEE10, MCSZ, PNK
Name
(RefSeq) polynucleotide kinase 3'-phosphatase
  KO
K08073  bifunctional polynucleotide phosphatase/kinase [EC:3.1.3.32 2.7.1.78]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03410  Base excision repair
Network
nt06504  Base excision repair
  Element
N01435  Base excision and strand cleavage by NEIL glycosylase
Disease
H00264  Charcot-Marie-Tooth disease
H00606  Early infantile epileptic encephalopathy
H00848  Ataxia with ocular apraxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03410 Base excision repair
    11284 (PNKP)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    11284 (PNKP)
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    11284 (PNKP)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.1  Phosphotransferases with an alcohol group as acceptor
    2.7.1.78  polynucleotide 5'-hydroxyl-kinase
     11284 (PNKP)
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.32  polynucleotide 3'-phosphatase
     11284 (PNKP)
Protein phosphatases and associated proteins [BR:hsa01009]
 HAD phosphatases
  Other HAD phosphatases
   11284 (PNKP)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   BER (base exicision repair)
    Other BER factors
     11284 (PNKP)
SSDB
Motif
Pfam: PNK3P FHA_2 AAA_33 HAD Zeta_toxin Hydrolase_6 AAA_17 AAA_30 Viral_helicase1
Other DBs
NCBI-GeneID: 11284
NCBI-ProteinID: NP_009185
OMIM: 605610
HGNC: 9154
Ensembl: ENSG00000039650
UniProt: Q96T60
Structure
Position
19:complement(49861204..49867576)
AA seq 521 aa
MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDRKCSRTQVELVADPETR
TVAVKQLGVNPSTTGTQELKPGLEGSLGVGDTLYLVNGLHPLTLRWEETRTPESQPDTPP
GTPLVSQDEKRDAELPKKRMRKSNPGWENLEKLLVFTAAGVKPQGKVAGFDLDGTLITTR
SGKVFPTGPSDWRILYPEIPRKLRELEAEGYKLVIFTNQMSIGRGKLPAEEFKAKVEAVV
EKLGVPFQVLVATHAGLYRKPVTGMWDHLQEQANDGTPISIGDSIFVGDAAGRPANWAPG
RKKKDFSCADRLFALNLGLPFATPEEFFLKWPAAGFELPAFDPRTVSRSGPLCLPESRAL
LSASPEVVVAVGFPGAGKSTFLKKHLVSAGYVHVNRDTLGSWQRCVTTCETALKQGKRVA
IDNTNPDAASRARYVQCARAAGVPCRCFLFTATLEQARHNNRFREMTDSSHIPVSDMVMY
GYRKQFEAPTLAEGFSAILEIPFRLWVEPRLGRLYCQFSEG
NT seq 1566 nt   +upstreamnt  +downstreamnt
atgggcgaggtggaggccccgggccgcttgtggctcgagagcccccctgggggagcgccc
cccatcttcctgccctcggacgggcaagccctggtcctgggcaggggacccctgacccag
gttacggaccggaagtgctccagaactcaagtggagctggtcgcagatcctgagacccgg
acagtggcagtgaaacagctgggagttaacccctcaactaccgggacccaggagttgaag
ccggggttggagggctctctgggggtgggggacacactgtatttggtcaatggcctccac
ccactgaccctgcgctgggaagagacccgcacaccagaatcccagccagatactccgcct
ggcacccctctggtgtcccaagatgagaagagagatgctgagctgccgaagaagcgtatg
cggaagtcaaaccccggctgggagaacttggagaagttgctagtgttcaccgcagctggg
gtgaaaccccagggcaaggtggctggctttgatctggacgggacgctcatcaccacacgc
tctgggaaggtctttcccactggccccagtgactggaggatcttgtacccagagattccc
cgtaagctccgagagctggaagccgagggctacaagctggtgatcttcaccaaccagatg
agcatcgggcgcgggaagctgccagccgaggagttcaaggccaaggtggaggctgtggtg
gagaagctgggggtccccttccaggtgctggtggccacgcacgcaggcttgtaccggaag
ccggtgacgggcatgtgggaccatctgcaggagcaggccaacgacggcacgcccatatcc
atcggggacagcatctttgtgggagacgcagccggacgcccggccaactgggccccgggg
cggaagaagaaagacttctcctgcgccgatcgcctgtttgccctcaaccttggcctgccc
ttcgccacgcctgaggagttctttctcaagtggccagcagccggcttcgagctcccagcc
tttgatccgaggactgtctcccgctcagggcctctctgcctccccgagtccagggccctc
ctgagcgccagcccggaggtggttgtcgcagtgggattccctggggccgggaagtccacc
tttctcaagaagcacctcgtgtcggccggatatgtccacgtgaacagggacacgctaggc
tcctggcagcgctgtgtgaccacgtgtgagacagccctgaagcaagggaaacgggtcgcc
atcgacaacacaaacccagacgccgcgagccgcgccaggtacgtccagtgtgcccgagcc
gcgggcgtcccctgccgctgcttcctcttcaccgccactctggagcaggcgcgccacaac
aaccggtttcgagagatgacggactcctctcatatccccgtgtcagacatggtcatgtat
ggctacaggaagcagttcgaggccccaacgctggctgaaggcttctctgccatcctggag
atcccgttccggctatgggtggagccgaggctggggcggctgtactgccagttctccgag
ggctga

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Chemical reaction (2)   
   KEGG ENZYME (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
3D Structure (2)   
   PDB (2)   
Protein domain (9)   
   Pfam (9)   
All databases (65)   

Download RDF
DBGET integrated database retrieval system