KEGG   Homo sapiens (human): 2068Help
Entry
2068              CDS       T01001                                 

Gene name
ERCC2, COFS2, EM9, TFIIH, TTD, TTD1, XPD
Definition
(RefSeq) ERCC excision repair 2, TFIIH core complex helicase subunit
  KO
K10844  DNA excision repair protein ERCC-2 [EC:3.6.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03022  Basal transcription factors
hsa03420  Nucleotide excision repair
Module
hsa_M00290  Holo-TFIIH complex
Disease
H00403  Disorders of nucleotide excision repair
H00866  Trichothiodystrophy
H01428  Xeroderma pigmentosum (XP)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Transcription
   03022 Basal transcription factors
    2068 (ERCC2)
  Replication and repair
   03420 Nucleotide excision repair
    2068 (ERCC2)
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
     2068 (ERCC2)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Basal transcription factors
    TFIIH
     2068 (ERCC2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic Type
  SSBR (single strand breaks repair)
   NER (nucleotide excision repair)
    TFIIH complex
     2068 (ERCC2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DEAD_2 Helicase_C_2 HBB ResIII AAA_22 SesA PhoH TIR_2
Motif
Other DBs
NCBI-GeneID: 2068
NCBI-ProteinID: NP_000391
OMIM: 126340
HGNC: 3434
Ensembl: ENSG00000104884
Vega: OTTHUMG00000048190
Pharos: P18074(Tbio)
UniProt: P18074
Structure
PDB: 

Position
19q13.32
AA seq 760 aa AA seqDB search
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ
RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE
VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL
KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG
LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT
SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA
AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL
NT seq 2283 nt NT seq  +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

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