KEGG   Homo sapiens (human): 2074
Entry
2074              CDS       T01001                                 
Symbol
ERCC6, ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
Name
(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
Network
nt06502  Nucleotide excision repair
  Element
N01430  Transcription-coupled NER
Disease
H00076  Cockayne syndrome
H00403  Disorders of nucleotide excision repair
H00627  Premature ovarian failure
H00821  Age-related macular degeneration
H02131  UV-sensitive syndrome
H02570  Cerebro-oculo-facio-skeletal 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)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C ResIII DEAD HDA2-3 Spt5-NGN
Other DBs
NCBI-GeneID: 2074
NCBI-ProteinID: NP_000115
OMIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830
UniProt: Q03468 Q59FF6
Structure
Position
10:complement(49434881..49539538)
AA seq 1493 aa
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   +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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (14)   
   KEGG DISEASE (6)   
   OMIM (8)   
Genome (1)   
   KEGG GENOME (1)   
Gene (29)   
   KEGG ORTHOLOGY (1)   
   RefGene (23)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (24)   
   RefSeq(nuc) (4)   
   GenBank (10)   
   EMBL (10)   
3D Structure (9)   
   PDB (9)   
Protein domain (6)   
   Pfam (6)   
All databases (96)   

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