KEGG   Homo sapiens (human): 2074Help
Entry
2074              CDS       T01001                                 

Gene name
ERCC6, ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
Definition
(RefSeq) ERCC excision repair 6, chromatin remodeling factor
  KO
K10841  DNA excision repair protein ERCC-6
Organism
hsa  Homo sapiens (human)
Pathway
hsa03420  Nucleotide excision repair
Disease
H00076  Cockayne syndrome
H00403  Disorders of nucleotide excision repair
H00821  Age-related macular degeneration
H02131  UV-sensitive syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03420 Nucleotide excision repair
    2074 (ERCC6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    2074 (ERCC6)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    2074 (ERCC6)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Chromatin remodeling factors
   B-WICH complex
    2074 (ERCC6)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic Type
  SSBR (single strand breaks repair)
   NER (nucleotide excision repair)
    TCR (transcription coupled repair) factors
     Other TCR factor
      2074 (ERCC6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SNF2_N Helicase_C Spt5-NGN
Motif
Other DBs
NCBI-GeneID: 2074
NCBI-ProteinID: NP_000115
OMIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830
Vega: OTTHUMG00000018195
Pharos: Q03468(Tbio)
UniProt: Q03468 Q59FF6
Structure
PDB: 

Position
10q11.23
AA seq 1493 aa AA seqDB search
MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRL
KLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTI
QIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHET
GSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTL
ACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNAS
PVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTDEQHKVYQNFV
DSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGK
MIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITR
YNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVY
RLLTAGTIEEKIYHRQIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSA
IFAGTGSDVQTPKCHLKRRIQPAFGADHDVPKRKKFPASNISVNDATSSEEKSEAKGAEV
NAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISGNGECSNSSGTGKTSM
PSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHL
RPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSV
GVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGI
SGAPAGKKSRFGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSS
SGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAH
TDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC
NT seq 4482 nt NT seq  +upstreamnt  +downstreamnt
atgccaaatgagggaatcccccactcaagtcaaactcaggagcaagactgtttacagagt
caacctgtcagtaataatgaagaaatggcaatcaagcaagaaagtggtggtgatggggag
gtggaggagtacctctcctttcgttctgtgggtgacgggctgtccacctctgctgtgggg
tgcgcatcagcagctccgaggagagggccagccctgctgcacatcgaccgacatcagatc
caggcagtagagcctagcgcccaggcccttgagctgcagggtttgggtgtggacgtctat
gaccaggacgtgctggaacagggagtgcttcagcaggtggacaatgccatccatgaggcc
agccgtgcctcccagctcgttgacgtggagaaggagtatcggtcggtcctggatgacctc
acgtcatgtacgacatccctaaggcaaatcaataaaattattgaacagcttagccctcaa
gctgccaccagcagagacatcaacaggaaactagattctgtaaaacgacagaagtataat
aaggaacaacagctaaaaaagatcactgcaaaacaaaagcatctccaggccatccttgga
ggagcagaggtgaaaattgaactagatcacgccagtctggaggaggatgcagagccgggg
ccatccagtcttggcagcatgctcatgcctgtccaggagactgcctgggaagagctcatc
cgcactggccagatgacaccttttggtacccagatccctcagaaacaggagaaaaagccc
agaaaaatcatgcttaatgaagcatcaggcttcgaaaagtatttggcagatcaagcaaaa
ctgtcttttgaaaggaagaagcaaggttgtaataaaagagcagctagaaaagctccagcc
ccagtcacgcctccagccccagtgcaaaataaaaacaaaccaaacaagaaagccagagtt
ctgtccaaaaaagaggagcgtttgaaaaagcacatcaagaaactccagaagagggctttg
cagttccaggggaaagtgggattgccaaaggcaaggagaccttgggagtcagacatgagg
ccagaggcagagggagactctgagggtgaagagtctgagtatttccccacagaggaggag
gaagaggaggaagatgacgaggtggagggggcagaggcggacctgtctggagatggtact
gactatgagctgaagcctctgcccaagggcgggaaacggcagaagaaagtgccagtgcag
gagattgatgatgactttttcccaagttctggggaagaagctgaagctgcttctgtagga
gaaggaggaggaggaggtcggaaagtgggaagataccgagatgatggagatgaagattat
tataagcagcggttaaggagatggaataaactgagactgcaggacaaagagaaacgtctg
aagctggaggacgattctgaggaaagtgatgctgaatttgacgaaggttttaaagtgcca
ggttttctgttcaaaaagctttttaagtaccagcagacaggtgttaggtggctgtgggaa
ttgcactgccagcaggcaggaggaattctgggagatgaaatgggattgggcaagaccatc
cagataattgccttcttggcaggtctgagctacagcaagatcaggactcgtggttcaaat
tacaggtttgaggggttgggtccaactgtaattgtctgtccaacaacagtgatgcatcag
tgggtgaaggaatttcacacgtggtggcctccgttcagagtggcaattctacatgaaacc
ggttcctatacccacaaaaaggagaaactaattcgagatgttgctcattgtcatggaatt
ttgatcacatcttactcctacattcgattgatgcaggatgacattagcaggtatgactgg
cactatgtgatcttggacgaaggacacaaaattcgaaatccaaatgctgctgtcaccctt
gcttgcaaacagtttcgcacccctcatcggatcattctgtctggctcaccgatgcaaaat
aacctccgagagctgtggtcgctctttgacttcatcttcccgggaaagttaggcacgttg
cctgtgtttatggagcagttctccgtccccatcaccatggggggatattcaaatgcttcc
ccagtacaggtcaaaactgcttacaagtgtgcatgtgtcttacgagataccataaatcca
tacctactgcggagaatgaagtcagatgtcaagatgagcctttctttgccagataaaaat
gaacaggtcttattttgccgtcttacagatgagcagcataaagtctaccaaaatttcgtt
gattccaaagaagtttacaggattctcaatggagagatgcagattttctccggacttata
gccctaagaaaaatttgcaaccaccctgatctcttttctggaggtcccaagaatctcaaa
ggtcttcctgatgatgaactagaagaagatcagtttgggtactggaaacgttctgggaaa
atgattgttgttgagtctttgttgaaaatatggcacaagcagggtcagcgagtattgctg
ttttctcagtcaaggcagatgctggacatacttgaagtattccttagagcccaaaagtat
acctatctcaagatggatggtaccactacaatagcttcaagacagccactgattacgaga
tacaatgaggacacatccatatttgtgtttcttctgaccacgcgggtgggcggcttaggt
gtcaacctgacgggggcaaacagagttgtcatctatgacccagactggaacccaagcacg
gacacgcaggcccgggagcgagcatggagaataggccagaagaagcaagtgactgtgtac
aggctcctgactgcgggcaccattgaagaaaagatctaccaccgacaaatcttcaagcag
tttttgacaaatagagtgctaaaagacccaaaacaaaggcggtttttcaaatccaatgat
ctctatgagctatttactctgactagtcctgatgcatcccagagcactgaaacaagtgca
atttttgcaggaactggatcagatgttcagacacccaaatgccatctaaaaagaaggatt
caaccagcctttggagcagaccatgatgttccaaaacgcaagaagttccctgcttctaac
atatctgtaaatgatgccacatcatctgaagagaaatctgaggctaaaggagctgaagta
aatgcagtaacttctaatcgaagtgatcctttgaaagatgaccctcacatgagtagtaat
gtaactagcaatgataggcttggagaagagacaaatgcagtatctggaccagaagagttg
tcagtgattagtggaaatggggaatgttcaaattcttcaggaacaggcaaaacttctatg
ccatctggtgatgaaagcattgatgaaaagttaggtctttcttacaaaagagaaagaccc
agccaggctcaaacagaagctttttgggagaataaacaaatggaaaataatttttataag
cacaagtcaaaaacaaaacatcatagtgtggcagaagaagagaccctggagaaacatctg
agaccaaagcaaaagcctaagaactctaagcattgcagagacgccaagtttgaaggaact
cgaattccacacctggtgaagaaaaggcgttaccagaagcaagacagtgaaaacaagagt
gaggccaaggaacagagcaatgacgattatgttttggaaaagcttttcaaaaaatcagtt
ggcgtgcacagtgtcatgaagcacgatgccatcatggatggagccagcccagattatgta
ctggtggaggcagaagccaaccgagtggcccaggatgccctgaaagcactgaggctctct
cgtcagcggtgtctgggagcagtgtctggtgttcccacctggactggccacagggggatt
tctggtgcaccagcaggaaaaaagagtagatttggtaagaaaaggaattctaacttctct
gtgcagcatccttcatcaacatctccaacagagaagtgccaggatggcatcatgaaaaag
gagggaaaagataatgtccctgagcattttagtggaagagcagaagatgcagactcttca
tccgggcccctcgcttcctcctcactcttggctaaaatgagagctagaaaccacctgatt
ctgccagagcgtttagaaagtgaaagcgggcacctgcaggaagcttctgccctgctgccc
accacagaacacgatgaccttctggtggagatgagaaacttcatcgctttccaggcccac
actgatggccaggccagcaccagggagatactgcaggagtttgaatccaagttatctgca
tcacagtcttgtgtcttccgagaactattgagaaatctgtgcactttccatagaacttct
ggtggtgaaggaatttggaaactcaagccagaatactgctaa

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