KEGG   Homo sapiens (human): 55775
Entry
55775             CDS       T01001                                 
Symbol
TDP1
Name
(RefSeq) tyrosyl-DNA phosphodiesterase 1
  KO
K10862  tyrosyl-DNA phosphodiesterase 1 [EC:3.1.4.-]
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
H01891  Autosomal recessive spinocerebellar ataxias
H02573  Autosomal recessive spinocerebellar ataxias with axonal neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03410 Base excision repair
    55775 (TDP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    55775 (TDP1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   BER (base exicision repair)
    Other BER factors
     55775 (TDP1)
SSDB
Motif
Pfam: Tyr-DNA_phospho RMMBL
Other DBs
NCBI-GeneID: 55775
NCBI-ProteinID: NP_001008744
OMIM: 607198
HGNC: 18884
Ensembl: ENSG00000042088
UniProt: Q9NUW8 B3KN41
Structure
LinkDB
Position
14:89954968..90044764
AA seq 608 aa
MSQEGDYGRWTISSSDESEEEKPKPDKPSTSSLLCARQGAANEPRYTCSEAQKAAHKRKI
SPVKFSNTDSVLPPKRQKSGSQEDLGWCLSSSDDELQPEMPQKQAEKVVIKKEKDISAPN
DGTAQRTENHGAPACHRLKEEEDEYETSGEGQDIWDMLDKGNPFQFYLTRVSGVKPKYNS
GALHIKDILSPLFGTLVSSAQFNYCFDVDWLVKQYPPEFRKKPILLVHGDKREAKAHLHA
QAKPYENISLCQAKLDIAFGTHHTKMMLLLYEEGLRVVIHTSNLIHADWHQKTQGIWLSP
LYPRIADGTHKSGESPTHFKADLISYLMAYNAPSLKEWIDVIHKHDLSETNVYLIGSTPG
RFQGSQKDNWGHFRLKKLLKDHASSMPNAESWPVVGQFSSVGSLGADESKWLCSEFKESM
LTLGKESKTPGKSSVPLYLIYPSVENVRTSLEGYPAGGSLPYSIQTAEKQNWLHSYFHKW
SAETSGRSNAMPHIKTYMRPSPDFSKIAWFLVTSANLSKAAWGALEKNGTQLMIRSYELG
VLFLPSAFGLDSFKVKQKFFAGSQEPMATFPVPYDLPPELYGSKDRPWIWNIPYVKAPDT
HGNMWVPS
NT seq 1827 nt   +upstreamnt  +downstreamnt
atgtctcaggaaggcgattatgggaggtggaccatatctagtagtgatgaaagtgaggaa
gaaaagccaaaaccagacaagccatctacctcttctcttctctgtgccaggcaaggagca
gcaaatgagcccaggtacacctgttccgaggcccagaaagctgcacacaagaggaaaata
tcacctgtgaaattcagcaatacagattcagttttacctcccaaaaggcagaaaagcggt
tcccaggaggacctcggctggtgtctgtccagcagtgatgatgagctgcaaccagaaatg
ccgcagaagcaggctgagaaagtggtgatcaaaaaggagaaagacatctctgctcccaat
gacggcactgcccaaagaactgaaaatcatggcgctcccgcctgccacaggctcaaagag
gaggaagacgagtatgagacatcaggggagggccaggacatttgggacatgctggataaa
gggaaccccttccagttttacctcactagagtctctggagttaagccaaagtataactct
ggagccctccacatcaaggatattttatctcctttatttgggacgcttgtttcttcagct
cagtttaactactgctttgacgtggactggctcgtaaaacagtatccaccagagttcagg
aagaagccaatcctgcttgtgcatggtgataagcgagaggctaaggctcacctccatgcc
caggccaagccttacgagaacatctctctctgccaggcaaagttggatattgcgtttgga
acacaccacacgaaaatgatgctgctgctctatgaagaaggcctccgggttgtcatacac
acctccaacctcatccatgctgactggcaccagaaaactcaaggaatatggttgagcccc
ttatacccacgaattgctgatggaacccacaaatctggagagtcgccaacacattttaaa
gctgatctcatcagttacttgatggcttataatgccccttctctcaaggagtggatagat
gtcattcacaagcacgatctctctgaaacaaatgtttatcttattggttcaaccccagga
cgctttcaaggaagtcaaaaagataattggggacattttagacttaagaagcttctgaaa
gaccatgcctcatccatgcctaacgcagagtcctggcctgtcgtaggtcagttttcaagc
gttggctccttgggagccgatgaatcaaagtggttatgttctgagtttaaagagagcatg
ctgacactggggaaggaaagcaagactccaggaaaaagctctgttcctctttacttgatc
tatccttctgtggaaaatgtgcggaccagtttagaaggatatcctgctgggggctctctt
ccctatagcatccagacagctgaaaaacagaattggctgcattcctattttcacaaatgg
tcagctgagacttctggccgcagcaatgccatgccacatattaagacatatatgaggcct
tctccagacttcagtaaaattgcttggttccttgtcacaagcgcaaatctgtccaaggct
gcctggggagcattggagaagaatggcacccagctgatgatccgctcctacgagctcggg
gtccttttcctcccttcagcatttggtctagacagtttcaaagtgaaacagaagttcttc
gctggcagccaggagccaatggccacctttcctgtgccatatgatttgcctccagaactg
tatggaagtaaagatcggccatggatatggaacattccttatgtcaaagcaccggatacg
catgggaacatgtgggtgccctcctga

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 Zeta_toxin HAD Hydrolase_6 AAA_17 Viral_helicase1 AAA_30
Other DBs
NCBI-GeneID: 11284
NCBI-ProteinID: NP_009185
OMIM: 605610
HGNC: 9154
Ensembl: ENSG00000039650
UniProt: Q96T60
Structure
LinkDB
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

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