KEGG   Homo sapiens (human): 9401
Entry
9401              CDS       T01001                                 
Symbol
RECQL4, RECQ4
Name
(RefSeq) RecQ like helicase 4
  KO
K10730  ATP-dependent DNA helicase Q4 [EC:5.6.2.4]
Organism
hsa  Homo sapiens (human)
Disease
H00296  Defects in RecQ helicases
H00458  Syndromic craniosynostoses
H00965  RAPADILINO syndrome
H01734  Rothmund-Thomson syndrome
H01993  Baller-Gerold syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    9401 (RECQL4)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    9401 (RECQL4)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.4  DNA 3'-5' helicase
     9401 (RECQL4)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Initiation Factors
   Other initiation factors
    9401 (RECQL4)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    RecQ family DNA helicases
     9401 (RECQL4)
SSDB
Motif
Pfam: Helicase_C DEAD Drc1-Sld2 ResIII
Other DBs
NCBI-GeneID: 9401
NCBI-ProteinID: NP_004251
OMIM: 603780
HGNC: 9949
Ensembl: ENSG00000160957
Pharos: O94761(Tbio)
UniProt: O94761
Structure
Position
8:complement(144511288..144517833)
AA seq 1208 aa
MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLR
SSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAG
PALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLS
QRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEAS
AFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG
EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQ
KHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA
SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQA
FRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQ
VSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA
FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAE
EPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALL
RTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDR
PDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL
AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH
ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALA
HRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGV
RRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSV
AFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVR
CDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT
EELLQVAR
NT seq 3627 nt   +upstreamnt  +downstreamnt
atggagcggctgcgggacgtgcgggagcggctgcaggcgtgggagcgcgcgttccgacgg
cagcgcgggcggcgaccgagccaggacgacgtggaggcggcgccggaggagacccgcgcg
ctctaccgggaataccgcactctgaagcgtaccacgggccaggccggcggcgggctccgc
agctccgagtcgctccccgcggcggccgaagaggcgccagagccccgctgctgggggccc
catctgaatcgggctgcgaccaagagtccacagtctacgccagggcggagccgccagggc
tcggtgccggactacgggcagcggctcaaggccaatctgaaaggcaccctgcaggccgga
ccagccctgggccgcagaccgtggcctctaggaagagcctcatctaaggcatccacccca
aagcccccaggtacagggcctgtcccctcctttgcagaaaaagtcagtgatgagcctcca
cagctccctgagccccagccaaggccaggccggctccagcatctgcaggcatccctgagc
cagcggctgggctccctagatcctggctggttacagcgatgtcacagtgaggtcccagat
tttctgggggcccccaaagcctgcaggcctgatctaggctcagaggaatcacaacttctg
atccctggtgagtcggctgtccttggtcctggtgctggctcccagggcccagaggcttca
gccttccaagaagtcagcatccgtgtggggagcccccagcccagcagcagtggaggcgag
aagcggagatggaacgaggagccctgggagagccccgcacaggtccagcaggagagcagc
caagctggacccccatcggagggggctggggctgtagcagttgaggaagaccctccaggg
gaacctgtacaggcacagccacctcagccctgcagcagcccatcgaaccccaggtaccac
ggactcagcccctccagtcaagctagggctgggaaggctgagggcacagcccccctgcac
atcttccctcggctggcccgccatgacaggggcaattacgtacggctcaacatgaagcag
aaacactacgtgcggggccgggcactccgtagcaggctcctccgcaagcaggcatggaag
cagaagtggcggaagaaaggggagtgttttgggggtggtggtgccacagtcacaaccaag
gagtcttgtttcctgaacgagcagttcgatcactgggcagcccagtgtccccggccagca
agtgaggaagacacagatgctgttgggcctgagccactggttccttcaccacaacctgta
cctgaggtgcccagcctggaccccaccgtgctgccactctactccctggggccctcaggg
cagttggcagagacgccggctgaggtgttccaggccctggagcagctggggcaccaagcc
tttcgccctgggcaggagcgtgcagtcatgcggatcctgtctggcatctccacgctgctg
gtgctgcctacaggtgccggcaagtccctgtgctaccagctcccagcgctgctctacagc
cggcgcagcccctgcctcacgttggtcgtctctcccctgctgtcactcatggatgaccag
gtgtctggcctgccaccgtgtctcaaggcggcctgcatacactcgggcatgaccaggaag
caacgggaatctgtcctgcagaagattcgggcagcccaggtacacgtgctgatgctgaca
cctgaggcactggtgggggcgggaggcctccctccagccgcacagctgcctccagttgct
tttgcctgcattgatgaggcccactgcctctcccagtggtcccacaacttccggccctgc
tacctgcgcgtctgcaaggtgcttcgggagcgcatgggcgtgcactgcttcctgggcctc
acagccacagccacacgccgcactgccagtgacgtggcacagcacctggctgtggctgaa
gagcctgacctccacgggccagccccagttcccaccaacctgcacctttccgtgtccatg
gacagggacacagaccaggcactgttgacgctgctgcaaggcaaacgttttcaaaacctc
gattccattatcatttactgcaaccggcgcgaggacacagagcggatcgctgcgctcctc
cgaacctgcctgcacgcagcctgggtcccagggtctggaggtcgtgcccccaaaaccaca
gccgaggcctaccacgcgggcatgtgcagccgggaacggcggcgggtacagcgagccttc
atgcagggccagttgcgggtggtggtggccacggtggcctttgggatggggctggaccgg
ccagatgtgcgggctgtgctgcatctggggctgcccccaagcttcgagagctacgtgcag
gccgtgggccgggccgggcgtgacgggcagcctgcccactgccacctcttcctgcagccc
cagggcgaagacctgcgagagctgcgcagacatgtgcacgccgacagcacggacttcctg
gctgtgaagaggctggtacagcgcgtgttcccagcctgcacctgcacctgcaccaggccg
ccctcggagcaggaaggggccgtgggtggggagaggcctgtgcccaagtacccccctcaa
gaggctgagcagcttagccaccaagcagccccaggacccagaagggtctgcatgggccat
gagcgggcactcccaatacagcttaccgtacaggctttggacatgccggaggaggccatc
gagactttgctgtgctacctggagctgcacccacaccactggctggagctgctggcgacc
acctatacccattgccgtctgaactgccctgggggccctgcccagctccaggccctggcc
cacaggtgtccccctttggctgtgtgcttggcccagcagctgcctgaggacccagggcaa
ggcagcagctccgtggagtttgacatggtcaagctggtggactccatgggctgggagctg
gcctctgtgcggcgggctctctgccagctgcagtgggaccacgagcccaggacaggtgtg
cggcgtgggacaggggtgcttgtggagttcagtgagctggccttccaccttcgcagcccg
ggggacttgaccgctgaggagaaggaccagatatgtgacttcctctatggccgtgtgcag
gcccgggagcgccaggccctggcccgtctgcgcagaaccttccaggcctttcacagcgta
gccttccccagctgcgggccctgcctggagcagcaggatgaggagcgcagcaccaggctc
aaggacctgctcggccgctactttgaggaagaggaagggcaggagccgggaggcatggag
gacgcacagggccccgagccagggcaggccagactccaggattgggaggaccaggtccgc
tgcgacatccgccagttcctgtccctgaggccagaggagaagttctccagcagggctgtg
gcccgcatcttccacggcatcggaagcccctgctacccggcccaggtgtacgggcaggac
cgacgcttctggagaaaatacctgcacctgagcttccatgccctggtgggcctggccacg
gaagagctcctgcaggtggcccgctga

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