Homo sapiens (human): 2068
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Entry
2068 CDS
T01001
Symbol
ERCC2, COFS2, CXPD, EM9, TFIIH, TTD, TTD1, XPD
Name
(RefSeq) general transcription and DNA repair factor IIH helicase subunit XPD isoform 1
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
HBB
DEAD_2
Helicase_C_2
ResIII
DEAD
AAA_22
SesA
SNF2-rel_dom
Hjc
nSTAND3
Motif
Other DBs
NCBI-GeneID:
2068
NCBI-ProteinID:
NP_000391
OMIM:
126340
HGNC:
3434
Ensembl:
ENSP00000375809.4
UniProt:
P18074
Structure
PDB
PDBj
LinkDB
All DBs
Position
19:complement(45349837..45370573)
Genome browser
AA seq
760 aa
AA seq
DB search
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ
RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE
VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL
KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG
LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT
SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA
AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL
NT seq
2283 nt
NT seq
+upstream
nt +downstream
nt
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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