KEGG   Homo sapiens (human): 2068
Entry
2068              CDS       T01001                                 
Symbol
ERCC2, COFS2, EM9, TFIIH, TTD, TTD1, XPD
Name
(RefSeq) ERCC excision repair 2, TFIIH core complex helicase subunit
  KO
K10844  DNA excision repair protein ERCC-2 [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03022  Basal transcription factors
hsa03420  Nucleotide excision repair
Network
nt06502  Nucleotide excision repair
  Element
N01425  Global genome NER
N01430  Transcription-coupled NER
N01431  Core NER reaction
Disease
H00403  Disorders of nucleotide excision repair
H00866  Trichothiodystrophy
H01428  Xeroderma pigmentosum
H02570  Cerebro-oculo-facio-skeletal syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03022 Basal transcription factors
    2068 (ERCC2)
  09124 Replication and repair
   03420 Nucleotide excision repair
    2068 (ERCC2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    2068 (ERCC2)
   03036 Chromosome and associated proteins [BR:hsa03036]
    2068 (ERCC2)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    2068 (ERCC2)
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
     2068 (ERCC2)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Basal transcription factors
    TFIIH
     2068 (ERCC2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Spindle formation proteins
    2068 (ERCC2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   NER (nucleotide excision repair)
    TFIIH complex
     2068 (ERCC2)
SSDB
Motif
Pfam: HBB DEAD_2 Helicase_C_2 ResIII DEAD AAA_22 SesA SNF2-rel_dom nSTAND3
Other DBs
NCBI-GeneID: 2068
NCBI-ProteinID: NP_000391
OMIM: 126340
HGNC: 3434
Ensembl: ENSG00000104884
UniProt: P18074
Structure
Position
19:complement(45349837..45370573)
AA seq 760 aa
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ
RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE
VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL
KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG
LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT
SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA
AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL
NT seq 2283 nt   +upstreamnt  +downstreamnt
atgaagctcaacgtggacgggctcctggtctacttcccgtacgactacatctaccccgag
cagttctcctacatgcgggagctcaaacgcacgctggacgccaagggtcatggagtcctg
gagatgccctcaggcaccgggaagacagtatccctgttggccctgatcatggcataccag
agagcatatccgctggaggtgaccaaactcatctactgctcaagaactgtgccagagatt
gagaaggtgattgaagagcttcgaaagttgctcaacttctatgagaagcaggagggcgag
aagctgccgtttctgggactggctctgagctcccgcaaaaacttgtgtattcaccctgag
gtgacacccctgcgctttgggaaggacgtcgatgggaaatgccacagcctcacagcctcc
tatgtgcgggcgcagtaccagcatgacaccagcctgccccactgccgattctatgaggaa
tttgatgcccatgggcgtgaggtgcccctccccgctggcatctacaacctggatgacctg
aaggccctggggcggcgccagggctggtgcccatacttccttgctcgatactcaatcctg
catgccaatgtggtggtttatagctaccactacctcctggaccccaagattgcagacctg
gtgtccaaggaactggcccgcaaggccgtcgtggtcttcgacgaggcccacaacattgac
aacgtctgcatcgactccatgagcgtcaacctcacccgccggacccttgaccggtgccag
ggcaacctggagaccctgcagaagacggtgctcaggatcaaagagacagacgagcagcgc
ctgcgggacgagtaccggcgtctggtggaggggctgcgggaggccagcgccgcccgggag
acggacgcccacctggccaaccccgtgctgcccgacgaagtgctgcaggaggcagtgcct
ggctccatccgcacggccgagcatttcctgggcttcctgaggcggctgctggagtacgtg
aagtggcggctgcgtgtgcagcatgtggtgcaggagagcccgcccgccttcctgagcggc
ctggcccagcgcgtgtgcatccagcgcaagcccctcagattctgtgctgaacgcctccgg
tccctgctgcatactctggagatcaccgaccttgctgacttctccccgctcaccctcctt
gctaactttgccacccttgtcagcacctacgccaaaggcttcaccatcatcatcgagccc
tttgacgacagaaccccgaccattgccaaccccatcctgcacttcagctgcatggacgcc
tcgctggccatcaaacccgtatttgagcgtttccagtctgtcatcatcacatctgggaca
ctgtccccgctggacatctaccccaagatcctggacttccaccccgtcaccatggcaacc
ttcaccatgacgctggcacgggtctgcctctgccctatgatcatcggccgtggcaatgac
caggtggccatcagctccaaatttgagacccgggaggatattgctgtgatccggaactat
gggaacctcctgctggagatgtccgctgtggtccctgatggcatcgtggccttcttcacc
agctaccagtacatggagagcaccgtggcctcctggtatgagcaggggatccttgagaac
atccagaggaacaagctgctctttattgagacccaggatggtgccgaaaccagtgtcgcc
ctggagaagtaccaggaggcctgcgagaatggccgcggggccatcctgctgtcagtggcc
cggggcaaagtgtccgagggaatcgactttgtgcaccactacgggcgggccgtcatcatg
tttggcgtcccctacgtctacacacagagccgcattctcaaggcgcggctggaatacctg
cgggaccagttccagattcgtgagaatgactttcttaccttcgatgccatgcgccacgcg
gcccagtgtgtgggtcgggccatcaggggcaagacggactacggcctcatggtctttgcc
gacaagcggtttgcccgtggggacaagcgggggaagctgccccgctggatccaggagcac
ctcacagatgccaacctcaacctgaccgtggacgagggtgtccaggtggccaagtacttc
ctgcggcagatggcacagcccttccaccgggaggatcagctgggcctgtccctgctcagc
ctggagcagctagaatcagaggagacgctgaagaggatagagcagattgctcagcagctc
tga

  All links  
Disease (4)   
   OMIM (4)   
Gene (15)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (48)   
   RefSeq(nuc) (14)   
   GenBank (17)   
   EMBL (17)   
3D Structure (42)   
   PDB (42)   
Protein domain (9)   
   Pfam (9)   
All databases (129)   

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