KEGG   Homo sapiens (human): 56652
Entry
56652             CDS       T01001                                 

Gene name
TWNK, ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
Definition
(RefSeq) twinkle mtDNA helicase
  KO
K17680  twinkle protein [EC:3.6.4.12]
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]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.12  DNA 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 AAA_19 AAA ABC_tran cobW AAA_33 PhoH TsaE AAA_7
Other DBs
NCBI-GeneID: 56652
NCBI-ProteinID: NP_068602
OMIM: 606075
HGNC: 1160
Ensembl: ENSG00000107815
Vega: OTTHUMG00000018917
Pharos: Q96RR1(Tbio)
UniProt: Q96RR1 E5KSY5 Q9H6V3
Position
10q24.31
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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