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Protein

General transcription and DNA repair factor IIH helicase subunit XPD

Gene

ERCC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.4 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi116Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi134Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi155Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi190Iron-sulfur (4Fe-4S)Curated1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi42 – 49ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  • 5'-3' DNA helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • ATP-dependent DNA helicase activity Source: InterPro
  • DNA binding Source: UniProtKB-KW
  • DNA-dependent ATPase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processChromosome partition, DNA damage, DNA repair, Host-virus interaction, Transcription, Transcription regulation
Ligand4Fe-4S, ATP-binding, Iron, Iron-sulfur, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161 HIV Transcription Initiation
R-HSA-167162 RNA Polymerase II HIV Promoter Escape
R-HSA-167172 Transcription of the HIV genome
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE
SIGNORiP18074

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription and DNA repair factor IIH helicase subunit XPD (EC:3.6.4.12)
Short name:
TFIIH subunit XPD
Alternative name(s):
Basic transcription factor 2 80 kDa subunit
Short name:
BTF2 p80
CXPD
DNA excision repair protein ERCC-2
DNA repair protein complementing XP-D cells
TFIIH basal transcription factor complex 80 kDa subunit
Short name:
TFIIH 80 kDa subunit
Short name:
TFIIH p80
Xeroderma pigmentosum group D-complementing protein
Gene namesi
Name:ERCC2
Synonyms:XPD, XPDC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000104884.14
HGNCiHGNC:3434 ERCC2
MIMi126340 gene
neXtProtiNX_P18074

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Xeroderma pigmentosum complementation group D (XP-D)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
See also OMIM:278730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00818747G → R in XP-D. 1
Natural variantiVAR_01728276T → A in XP-D. 1
Natural variantiVAR_008188234D → N in XP-D. 1
Natural variantiVAR_017283485L → P in XP-D; the corresponding mutation in fission yeast causes complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121913025EnsemblClinVar.1
Natural variantiVAR_017285511R → Q in XP-D. Corresponds to variant dbSNP:rs772572683Ensembl.1
Natural variantiVAR_003625541S → R in XP-D; mild. 1 PublicationCorresponds to variant dbSNP:rs121913019EnsemblClinVar.1
Natural variantiVAR_008191542Y → C in XP-D. 1
Natural variantiVAR_017286582 – 583EK → VSE in XP-D. 1 Publication2
Natural variantiVAR_008192601R → L in XP-D. Corresponds to variant dbSNP:rs140522180Ensembl.1
Natural variantiVAR_017289601R → W in XP-D. Corresponds to variant dbSNP:rs753641926Ensembl.1
Natural variantiVAR_003627602G → D in XP-D; combined with features of Cockayne syndrome. Corresponds to variant dbSNP:rs771824813Ensembl.1
Natural variantiVAR_017292666R → W in XP-D. Corresponds to variant dbSNP:rs752510317Ensembl.1
Natural variantiVAR_008197683R → Q in XP-D. Corresponds to variant dbSNP:rs758439420EnsemblClinVar.1
Natural variantiVAR_008198683R → W in XP-D; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitment to CYP24A1 promoter. 1 PublicationCorresponds to variant dbSNP:rs41556519EnsemblClinVar.1
Trichothiodystrophy 1, photosensitive (TTD1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity.
See also OMIM:601675
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008189259C → Y in TTD1. 1 PublicationCorresponds to variant dbSNP:rs370454709EnsemblClinVar.1
Natural variantiVAR_008190482Missing in TTD1. 1 Publication1
Natural variantiVAR_017284487R → G in TTD1. 1
Natural variantiVAR_003624488 – 493Missing in TTD1; mild. 1 Publication6
Natural variantiVAR_017287592R → P in TTD1. 1
Natural variantiVAR_017288594A → P in TTD1. 1
Natural variantiVAR_008194658R → C in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913021EnsemblClinVar.1
Natural variantiVAR_017290658R → G in TTD1. 1
Natural variantiVAR_008195658R → H in TTD1. Corresponds to variant dbSNP:rs762141272Ensembl.1
Natural variantiVAR_017291663C → R in TTD1. Corresponds to variant dbSNP:rs770367713Ensembl.1
Natural variantiVAR_008196673D → G in TTD1. 1 Publication1
Natural variantiVAR_008199713G → R in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913022EnsemblClinVar.1
Natural variantiVAR_003630722R → W in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913026EnsemblClinVar.1
Natural variantiVAR_003631725A → P in TTD1. 1 PublicationCorresponds to variant dbSNP:rs121913018EnsemblClinVar.1
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
See also OMIM:610756

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi48K → R: Decreased transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi190C → S: Reduced iron-sulfur-binding. Iron-sulfur-binding is further decreased in absence of MMS19. 1 Publication1

Keywords - Diseasei

Cataract, Cockayne syndrome, Deafness, Disease mutation, Dwarfism, Ichthyosis, Xeroderma pigmentosum

Organism-specific databases

DisGeNETi2068
GeneReviewsiERCC2
MalaCardsiERCC2
MIMi278730 phenotype
601675 phenotype
610756 phenotype
OpenTargetsiENSG00000104884
Orphaneti1466 COFS syndrome
33364 Trichothiodystrophy
276258 Xeroderma pigmentosum complementation group D
PharmGKBiPA27848

Polymorphism and mutation databases

BioMutaiERCC2
DMDMi119540

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001019801 – 760General transcription and DNA repair factor IIH helicase subunit XPDAdd BLAST760

Post-translational modificationi

ISGylated.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

EPDiP18074
MaxQBiP18074
PaxDbiP18074
PeptideAtlasiP18074
PRIDEiP18074

PTM databases

iPTMnetiP18074
PhosphoSitePlusiP18074

Expressioni

Gene expression databases

BgeeiENSG00000104884
CleanExiHS_ERCC2
ExpressionAtlasiP18074 baseline and differential
GenevisibleiP18074 HS

Organism-specific databases

HPAiCAB005375
HPA038057
HPA069266

Interactioni

Subunit structurei

Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription. The interaction with GTF2H2 results in the stimulation of the 5'-->3' helicase activity. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM196B; the interaction is direct. Interacts with ATF7IP.4 Publications
(Microbial infection) Interacts with Epstein-Barr virus EBNA2.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108380, 37 interactors
CORUMiP18074
DIPiDIP-644N
IntActiP18074, 45 interactors
STRINGi9606.ENSP00000375809

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IVWelectron microscopy10.00W1-760[»]
5IY6electron microscopy7.20W1-760[»]
5IY7electron microscopy8.60W1-760[»]
5IY8electron microscopy7.90W1-760[»]
5IY9electron microscopy6.30W1-760[»]
5OF4electron microscopy4.40B1-760[»]
ProteinModelPortaliP18074
SMRiP18074
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 283Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST277

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni438 – 637Mediates interaction with MMS19Add BLAST200

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi234 – 237DEAH box4
Motifi682 – 695Nuclear localization signalSequence analysisAdd BLAST14

Sequence similaritiesi

Belongs to the helicase family. RAD3/XPD subfamily.Curated

Phylogenomic databases

eggNOGiKOG1131 Eukaryota
COG1199 LUCA
GeneTreeiENSGT00550000075092
HOGENOMiHOG000205390
HOVERGENiHBG051498
InParanoidiP18074
KOiK10844
OMAiPSVVRNY
OrthoDBiEOG091G0262
PhylomeDBiP18074
TreeFamiTF101232

Family and domain databases

InterProiView protein in InterPro
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR010643 HBB
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like
IPR001945 RAD3/XPD
PANTHERiPTHR11472:SF1 PTHR11472:SF1, 1 hit
PfamiView protein in Pfam
PF06733 DEAD_2, 1 hit
PF06777 HBB, 1 hit
PF13307 Helicase_C_2, 1 hit
PRINTSiPR00852 XRODRMPGMNTD
SMARTiView protein in SMART
SM00488 DEXDc2, 1 hit
SM00491 HELICc2, 1 hit
SUPFAMiSSF52540 SSF52540, 4 hits
TIGRFAMsiTIGR00604 rad3, 1 hit
PROSITEiView protein in PROSITE
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51193 HELICASE_ATP_BIND_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P18074-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKLNVDGLLV YFPYDYIYPE QFSYMRELKR TLDAKGHGVL EMPSGTGKTV
60 70 80 90 100
SLLALIMAYQ RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LNFYEKQEGE
110 120 130 140 150
KLPFLGLALS SRKNLCIHPE VTPLRFGKDV DGKCHSLTAS YVRAQYQHDT
160 170 180 190 200
SLPHCRFYEE FDAHGREVPL PAGIYNLDDL KALGRRQGWC PYFLARYSIL
210 220 230 240 250
HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID NVCIDSMSVN
260 270 280 290 300
LTRRTLDRCQ GNLETLQKTV LRIKETDEQR LRDEYRRLVE GLREASAARE
310 320 330 340 350
TDAHLANPVL PDEVLQEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV
360 370 380 390 400
QESPPAFLSG LAQRVCIQRK PLRFCAERLR SLLHTLEITD LADFSPLTLL
410 420 430 440 450
ANFATLVSTY AKGFTIIIEP FDDRTPTIAN PILHFSCMDA SLAIKPVFER
460 470 480 490 500
FQSVIITSGT LSPLDIYPKI LDFHPVTMAT FTMTLARVCL CPMIIGRGND
510 520 530 540 550
QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT SYQYMESTVA
560 570 580 590 600
SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA
610 620 630 640 650
RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND
660 670 680 690 700
FLTFDAMRHA AQCVGRAIRG KTDYGLMVFA DKRFARGDKR GKLPRWIQEH
710 720 730 740 750
LTDANLNLTV DEGVQVAKYF LRQMAQPFHR EDQLGLSLLS LEQLESEETL
760
KRIEQIAQQL
Length:760
Mass (Da):86,909
Last modified:November 1, 1990 - v1
Checksum:i746C0888CDF2E331
GO
Isoform 2 (identifier: P18074-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     414-429: FTIIIEPFDDRTPTIA → QAQHCGSSRNQKRSHP
     430-760: Missing.

Note: No experimental confirmation available.
Show »
Length:405
Mass (Da):46,274
Checksum:iD56A486AC3C9D222
GO

Sequence cautioni

The sequence AAM45142 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00818747G → R in XP-D. 1
Natural variantiVAR_01728276T → A in XP-D. 1
Natural variantiVAR_003622112R → H in TTD1 and XP-D. 3 PublicationsCorresponds to variant dbSNP:rs121913020EnsemblClinVar.1
Natural variantiVAR_011412199I → M. Corresponds to variant dbSNP:rs1799791Ensembl.1
Natural variantiVAR_011413201H → Y. Corresponds to variant dbSNP:rs1799792Ensembl.1
Natural variantiVAR_008188234D → N in XP-D. 1
Natural variantiVAR_008189259C → Y in TTD1. 1 PublicationCorresponds to variant dbSNP:rs370454709EnsemblClinVar.1
Natural variantiVAR_011414312D → N4 PublicationsCorresponds to variant dbSNP:rs1799793EnsemblClinVar.1
Natural variantiVAR_003623461L → V in XP-D and TTD1. 3 PublicationsCorresponds to variant dbSNP:rs121913016EnsemblClinVar.1
Natural variantiVAR_008190482Missing in TTD1. 1 Publication1
Natural variantiVAR_017283485L → P in XP-D; the corresponding mutation in fission yeast causes complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121913025EnsemblClinVar.1
Natural variantiVAR_017284487R → G in TTD1. 1
Natural variantiVAR_003624488 – 493Missing in TTD1; mild. 1 Publication6
Natural variantiVAR_017285511R → Q in XP-D. Corresponds to variant dbSNP:rs772572683Ensembl.1
Natural variantiVAR_003625541S → R in XP-D; mild. 1 PublicationCorresponds to variant dbSNP:rs121913019EnsemblClinVar.1
Natural variantiVAR_008191542Y → C in XP-D. 1
Natural variantiVAR_017286582 – 583EK → VSE in XP-D. 1 Publication2
Natural variantiVAR_017287592R → P in TTD1. 1
Natural variantiVAR_017288594A → P in TTD1. 1
Natural variantiVAR_008192601R → L in XP-D. Corresponds to variant dbSNP:rs140522180Ensembl.1
Natural variantiVAR_017289601R → W in XP-D. Corresponds to variant dbSNP:rs753641926Ensembl.1
Natural variantiVAR_003627602G → D in XP-D; combined with features of Cockayne syndrome. Corresponds to variant dbSNP:rs771824813Ensembl.1
Natural variantiVAR_011415616R → C1 Publication1
Natural variantiVAR_003626616R → P in XP-D and TTD1. 1 PublicationCorresponds to variant dbSNP:rs376556895EnsemblClinVar.1
Natural variantiVAR_008193616R → W in XP-D and COFS2. 1 PublicationCorresponds to variant dbSNP:rs121913024EnsemblClinVar.1
Natural variantiVAR_008194658R → C in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913021EnsemblClinVar.1
Natural variantiVAR_017290658R → G in TTD1. 1
Natural variantiVAR_008195658R → H in TTD1. Corresponds to variant dbSNP:rs762141272Ensembl.1
Natural variantiVAR_017291663C → R in TTD1. Corresponds to variant dbSNP:rs770367713Ensembl.1
Natural variantiVAR_017292666R → W in XP-D. Corresponds to variant dbSNP:rs752510317Ensembl.1
Natural variantiVAR_008196673D → G in TTD1. 1 Publication1
Natural variantiVAR_003628675G → R in XP-D/CS; severe form. 1 Publication1
Natural variantiVAR_017293681D → N in XP-D and COFS2. 1 PublicationCorresponds to variant dbSNP:rs121913023EnsemblClinVar.1
Natural variantiVAR_008197683R → Q in XP-D. Corresponds to variant dbSNP:rs758439420EnsemblClinVar.1
Natural variantiVAR_008198683R → W in XP-D; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitment to CYP24A1 promoter. 1 PublicationCorresponds to variant dbSNP:rs41556519EnsemblClinVar.1
Natural variantiVAR_008199713G → R in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913022EnsemblClinVar.1
Natural variantiVAR_003629716 – 730Missing in XP-D and TTD1. 1 PublicationAdd BLAST15
Natural variantiVAR_003630722R → W in TTD1. 2 PublicationsCorresponds to variant dbSNP:rs121913026EnsemblClinVar.1
Natural variantiVAR_003631725A → P in TTD1. 1 PublicationCorresponds to variant dbSNP:rs121913018EnsemblClinVar.1
Natural variantiVAR_011416751K → Q Polymorphism; may be associated with increased susceptibility to DNA damage. 6 PublicationsCorresponds to variant dbSNP:rs13181EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0431321 – 24Missing in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_043133414 – 429FTIII…TPTIA → QAQHCGSSRNQKRSHP in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_043134430 – 760Missing in isoform 2. 1 PublicationAdd BLAST331

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52221 mRNA Translation: CAA36463.1
X52222 mRNA Translation: CAA36464.1
L47234 Genomic DNA Translation: AAL48323.1
AY092780 Genomic DNA Translation: AAM45142.1 Sequence problems.
BT006883 mRNA Translation: AAP35529.1
CH471126 Genomic DNA Translation: EAW57341.1
BC108255 mRNA Translation: AAI08256.1
BC110523 mRNA Translation: AAI10524.1
CCDSiCCDS33049.1 [P18074-1]
CCDS46112.1 [P18074-2]
PIRiS10888
RefSeqiNP_000391.1, NM_000400.3 [P18074-1]
NP_001124339.1, NM_001130867.1 [P18074-2]
UniGeneiHs.487294

Genome annotation databases

EnsembliENST00000391945; ENSP00000375809; ENSG00000104884 [P18074-1]
ENST00000485403; ENSP00000431229; ENSG00000104884 [P18074-2]
GeneIDi2068
KEGGihsa:2068
UCSCiuc002pbj.3 human [P18074-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiERCC2_HUMAN
AccessioniPrimary (citable) accession number: P18074
Secondary accession number(s): Q2TB78
, Q2YDY2, Q7KZU6, Q8N721
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: November 1, 1990
Last modified: May 23, 2018
This is version 217 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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