KEGG   Homo sapiens (human): 56652
Entry
56652             CDS       T01001                                 
Symbol
TWNK, ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
Name
(RefSeq) twinkle mtDNA helicase
  KO
K17680  twinkle protein [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00469  Mitochondrial DNA depletion syndrome
H01118  Progressive external ophthalmoplegia
H02095  Perrault syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    56652 (TWNK)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    56652 (TWNK)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.3  DNA 5'-3' helicase
     56652 (TWNK)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA replication factors
   Mitochondrial DNA maintenance factors
    56652 (TWNK)
SSDB
Motif
Pfam: AAA_25 DnaB_C ATPase AAA_22 AAA_16 T2SSE AAA_29 AAA_23 nSTAND3 ABC_tran cobW AAA_19 TsaE AAA_33 IstB_IS21 PhoH
Other DBs
NCBI-GeneID: 56652
NCBI-ProteinID: NP_068602
OMIM: 606075
HGNC: 1160
Ensembl: ENSG00000107815
UniProt: Q96RR1 E5KSY5 Q9H6V3
Structure
Position
10:100987543..100994403
AA seq 684 aa
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEI
RQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEG
SWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMF
GLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQ
FRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTAL
PAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSG
KTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIG
VFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGK
RYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGAT
TQNSEICSGQAPTPDQPDTSKRSK
NT seq 2055 nt   +upstreamnt  +downstreamnt
atgtgggtcctcctccgaagtgggtaccccctccgtatcttgttacccctgcgtggggag
tggatgggtcggaggggcctgccccgaaacttggccccaggccctcctcgcagacgttac
aggaaggagactctccaagccttggatatgccagtgttgcctgtaactgcaactgaaatc
cgccagtatttgcgggggcatgggatccccttccaggatggtcacagttgcctgcgggca
ctgagcccctttgcagagtcttcacagctcaaaggccagactggtgttaccacttccttc
agcctcttcattgacaagaccacaggccactttctctgcatgaccagcctagcagaaggg
agctgggaagacttccaggccagcgtggaggggcgaggggatggggccagggaggggttt
ctgcttagcaaggcaccagaatttgaggacagcgaggaggtccggaggatctggaaccga
gcaatacctctctgggagctgcctgatcaggaggaggttcagctggctgatacaatgttt
ggccttaccaaggttacagatgacacactcaagcgtttcagtgtgcgatatctgcgacct
gctcgcagtcttgtcttcccttggttctcccctgggggctcaggattacgaggcctgaag
ctcctagaggctaaatgccagggggatggagtgagctacgaggaaaccactattccccga
cccagcgcctaccacaatctgtttggattaccactgattagtcgtcgagatgctgaggtg
gtactgacgagtcgtgagcttgacagcctggccttgaaccagtccacggggctgcctacc
cttactctaccccgaggaacgacctgcttaccccctgccttactcccttacctggaacag
ttccggcggattgtattctggttgggggatgaccttcggtcctgggaagccgccaagttg
tttgcacgaaaactgaaccccaaacgatgcttcttggtgcgaccaggagaccagcaaccc
cgtcccctggaggccctgaacggaggcttcaatctttctcgtattcttcgtaccgccctg
cctgcctggcacaagtccatcgtatctttccggcagcttcgggaggaggtgctaggagaa
ctgtcaaatgtggagcaagcagctggcctccgctggagccgctttccagacctcaatcgt
atcttgaagggacatcgaaagggcgagctgacggtcttcacagggccaacaggcagtgga
aagacgacattcatcagtgagtatgccctggatttgtgttcccagggggtgaacacactg
tggggtagcttcgagatcagcaatgtgagactagcccgggtcatgctgacacagtttgcc
gaggggcggctggaagatcaactggacaaatatgatcactgggctgaccgctttgaggac
ctgcccctctatttcatgactttccatggacagcaaagcatcaggactgtaatagataca
atgcaacatgcagtctacgtctatgacatttgtcatgtgatcatcgacaacctgcagttc
atgatgggtcacgagcagctgtccacagacaggatcgcagctcaagactacatcatcggg
gtctttcggaagtttgcaacagacaataactgccatgtgacactggtcattcacccccgg
aaagaggatgatgacaaggaactgcagacagcgtccatttttggctcagccaaagcaagc
caggaagcagacaatgttctgatcctgcaggacaggaagctggtaaccgggccagggaaa
cggtatctgcaggtgtccaagaaccgctttgatggagatgtaggtgtcttcccgcttgag
ttcaacaagaactccctcaccttctccattccaccaaagaacaaggcccggctcaagaag
atcaaggatgacactggaccagtggccaaaaagccctcttctggcaaaaagggggctacg
acacagaactctgagatttgctcaggccaggcccccactcccgaccagccagacacctcc
aagcgttcaaagtga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (9)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (36)   
   RefSeq(nuc) (10)   
   GenBank (13)   
   EMBL (13)   
3D Structure (2)   
   PDB (2)   
Protein domain (16)   
   Pfam (16)   
All databases (92)   

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