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P18074

- ERCC2_HUMAN

UniProt

P18074 - ERCC2_HUMAN

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Protein

TFIIH basal transcription factor complex helicase XPD subunit

Gene

ERCC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi116 – 1161Iron-sulfur (4Fe-4S)By similarity
Metal bindingi134 – 1341Iron-sulfur (4Fe-4S)By similarity
Metal bindingi155 – 1551Iron-sulfur (4Fe-4S)By similarity
Metal bindingi190 – 1901Iron-sulfur (4Fe-4S)Curated

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi42 – 498ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  2. 5'-3' DNA helicase activity Source: UniProtKB
  3. ATP binding Source: UniProtKB-KW
  4. ATP-dependent DNA helicase activity Source: InterPro
  5. DNA binding Source: UniProtKB-KW
  6. DNA-dependent ATPase activity Source: UniProtKB
  7. metal ion binding Source: UniProtKB-KW
  8. protein C-terminus binding Source: UniProtKB
  9. protein N-terminus binding Source: UniProtKB

GO - Biological processi

  1. 7-methylguanosine mRNA capping Source: Reactome
  2. aging Source: Ensembl
  3. apoptotic process Source: UniProtKB
  4. ATP catabolic process Source: GOC
  5. bone mineralization Source: Ensembl
  6. cell proliferation Source: Ensembl
  7. central nervous system myelin formation Source: Ensembl
  8. chromosome segregation Source: UniProtKB
  9. DNA duplex unwinding Source: GOC
  10. DNA repair Source: Reactome
  11. embryonic cleavage Source: Ensembl
  12. erythrocyte maturation Source: Ensembl
  13. extracellular matrix organization Source: Ensembl
  14. gene expression Source: Reactome
  15. hair cell differentiation Source: UniProtKB
  16. hair follicle maturation Source: Ensembl
  17. hematopoietic stem cell differentiation Source: Ensembl
  18. in utero embryonic development Source: Ensembl
  19. multicellular organism growth Source: Ensembl
  20. nucleotide-excision repair Source: UniProtKB
  21. nucleotide-excision repair, DNA damage removal Source: Reactome
  22. nucleotide-excision repair, DNA incision Source: UniProtKB
  23. positive regulation of DNA binding Source: Ensembl
  24. positive regulation of transcription, DNA-templated Source: UniProtKB
  25. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  26. positive regulation of viral transcription Source: Reactome
  27. post-embryonic development Source: Ensembl
  28. protein phosphorylation Source: GOC
  29. regulation of mitotic cell cycle phase transition Source: UniProtKB
  30. response to hypoxia Source: Ensembl
  31. response to oxidative stress Source: UniProtKB
  32. small molecule metabolic process Source: Reactome
  33. spinal cord development Source: Ensembl
  34. termination of RNA polymerase I transcription Source: Reactome
  35. transcription-coupled nucleotide-excision repair Source: UniProtKB
  36. transcription elongation from RNA polymerase II promoter Source: Reactome
  37. transcription elongation from RNA polymerase I promoter Source: Reactome
  38. transcription from RNA polymerase II promoter Source: UniProtKB
  39. transcription from RNA polymerase I promoter Source: Reactome
  40. transcription initiation from RNA polymerase II promoter Source: Reactome
  41. transcription initiation from RNA polymerase I promoter Source: Reactome
  42. UV protection Source: MGI
  43. viral process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

Chromosome partition, DNA damage, DNA repair, Host-virus interaction, Transcription, Transcription regulation

Keywords - Ligandi

4Fe-4S, ATP-binding, DNA-binding, Iron, Iron-sulfur, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_1074. RNA Polymerase I Transcription Termination.
REACT_1470. mRNA Capping.
REACT_160176. Cytosolic iron-sulfur cluster assembly.
REACT_1655. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
REACT_1851. RNA Polymerase II Transcription Initiation.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2089. RNA Polymerase II Promoter Escape.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22107. RNA Polymerase II Pre-transcription Events.
REACT_22201. Formation of HIV elongation complex in the absence of HIV Tat.
REACT_2222. Dual incision reaction in TC-NER.
REACT_257. Formation of incision complex in GG-NER.
REACT_311. Dual incision reaction in GG-NER.
REACT_6162. Tat-mediated elongation of the HIV-1 transcript.
REACT_6233. Transcription of the HIV genome.
REACT_6237. RNA Pol II CTD phosphorylation and interaction with CE.
REACT_6253. RNA Polymerase II HIV Promoter Escape.
REACT_6319. Formation of the HIV-1 Early Elongation Complex.
REACT_6332. HIV Transcription Initiation.
REACT_6346. Formation of HIV-1 elongation complex containing HIV-1 Tat.
REACT_833. RNA Polymerase II Transcription Elongation.
REACT_834. RNA Polymerase II Transcription Initiation And Promoter Clearance.
REACT_846. Formation of the Early Elongation Complex.
REACT_953. RNA Polymerase I Transcription Initiation.
REACT_975. RNA Pol II CTD phosphorylation and interaction with CE.

Names & Taxonomyi

Protein namesi
Recommended name:
TFIIH basal transcription factor complex helicase XPD subunit (EC:3.6.4.12)
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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:3434. ERCC2.

Subcellular locationi

Nucleus 1 Publication. Cytoplasmcytoskeletonspindle 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. holo TFIIH complex Source: UniProtKB
  3. MMXD complex Source: UniProtKB
  4. nucleoplasm Source: Reactome
  5. nucleus Source: UniProtKB
  6. spindle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]: An 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471G → R in XP-D.
VAR_008187
Natural varianti76 – 761T → A in XP-D.
VAR_017282
Natural varianti112 – 1121R → H in TTDP and XP-D. 3 Publications
VAR_003622
Natural varianti234 – 2341D → N in XP-D.
VAR_008188
Natural varianti461 – 4611L → V in XP-D and TTDP. 3 Publications
VAR_003623
Natural varianti485 – 4851L → P in XP-D; the corresponding mutation in fission yeast causes complete loss of activity. 1 Publication
VAR_017283
Natural varianti511 – 5111R → Q in XP-D.
VAR_017285
Natural varianti541 – 5411S → R in XP-D; mild. 1 Publication
Corresponds to variant rs121913019 [ dbSNP | Ensembl ].
VAR_003625
Natural varianti542 – 5421Y → C in XP-D.
VAR_008191
Natural varianti582 – 5832EK → VSE in XP-D. 1 Publication
VAR_017286
Natural varianti601 – 6011R → L in XP-D.
VAR_008192
Natural varianti601 – 6011R → W in XP-D.
VAR_017289
Natural varianti602 – 6021G → D in XP-D; combined with features of Cockayne syndrome.
VAR_003627
Natural varianti616 – 6161R → P in XP-D and TTDP. 1 Publication
VAR_003626
Natural varianti616 – 6161R → W in XP-D and COFS2. 1 Publication
VAR_008193
Natural varianti666 – 6661R → W in XP-D.
VAR_017292
Natural varianti675 – 6751G → R in XP-D/CS; severe form. 1 Publication
VAR_003628
Natural varianti681 – 6811D → N in XP-D and COFS2. 1 Publication
VAR_017293
Natural varianti683 – 6831R → Q in XP-D; CNS.
VAR_008197
Natural varianti683 – 6831R → W in XP-D; CNS; 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.
Corresponds to variant rs41556519 [ dbSNP | Ensembl ].
VAR_008198
Natural varianti716 – 73015Missing in XP-D and TTDP. 1 Publication
VAR_003629Add
BLAST
Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121R → H in TTDP and XP-D. 3 Publications
VAR_003622
Natural varianti259 – 2591C → Y in TTDP. 1 Publication
VAR_008189
Natural varianti461 – 4611L → V in XP-D and TTDP. 3 Publications
VAR_003623
Natural varianti482 – 4821Missing in TTDP. 1 Publication
VAR_008190
Natural varianti487 – 4871R → G in TTDP.
VAR_017284
Natural varianti488 – 4936Missing in TTDP; mild. 1 Publication
VAR_003624
Natural varianti592 – 5921R → P in TTDP.
VAR_017287
Natural varianti594 – 5941A → P in TTDP.
VAR_017288
Natural varianti616 – 6161R → P in XP-D and TTDP. 1 Publication
VAR_003626
Natural varianti658 – 6581R → C in TTDP. 2 Publications
VAR_008194
Natural varianti658 – 6581R → G in TTDP.
VAR_017290
Natural varianti658 – 6581R → H in TTDP.
VAR_008195
Natural varianti663 – 6631C → R in TTDP.
VAR_017291
Natural varianti673 – 6731D → G in TTDP. 1 Publication
VAR_008196
Natural varianti713 – 7131G → R in TTDP. 2 Publications
VAR_008199
Natural varianti716 – 73015Missing in XP-D and TTDP. 1 Publication
VAR_003629Add
BLAST
Natural varianti722 – 7221R → W in TTDP. 2 Publications
VAR_003630
Natural varianti725 – 7251A → P in TTDP. 1 Publication
VAR_003631
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti616 – 6161R → W in XP-D and COFS2. 1 Publication
VAR_008193
Natural varianti681 – 6811D → N in XP-D and COFS2. 1 Publication
VAR_017293

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi48 – 481K → R: Decreased transcriptional activity of the reconstituted TFIIH complex. 1 Publication
Mutagenesisi190 – 1901C → S: Reduced iron-sulfur-binding. Iron-sulfur-binding is further decreased in absence of MMS19. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

MIMi278730. phenotype.
601675. phenotype.
610756. phenotype.
Orphaneti1466. COFS syndrome.
33364. Trichothiodystrophy.
276258. Xeroderma pigmentosum complementation group D.
PharmGKBiPA27848.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 760760TFIIH basal transcription factor complex helicase XPD subunitPRO_0000101980Add
BLAST

Post-translational modificationi

ISGylated.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiP18074.
PaxDbiP18074.
PRIDEiP18074.

PTM databases

PhosphoSiteiP18074.

Expressioni

Gene expression databases

BgeeiP18074.
CleanExiHS_ERCC2.
ExpressionAtlasiP18074. baseline and differential.
GenevestigatoriP18074.

Organism-specific databases

HPAiCAB005375.
HPA038057.

Interactioni

Subunit structurei

One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. 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. Interacts with Epstein-Barr virus EBNA2.5 Publications

Protein-protein interaction databases

BioGridi108380. 26 interactions.
DIPiDIP-644N.
IntActiP18074. 9 interactions.
MINTiMINT-3008891.
STRINGi9606.ENSP00000375809.

Structurei

3D structure databases

ProteinModelPortaliP18074.
SMRiP18074. Positions 35-258.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 283277Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni438 – 637200Mediates interaction with MMS19Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi234 – 2374DEAH box
Motifi682 – 69514Nuclear localization signalSequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the helicase family. RAD3/XPD subfamily.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG1199.
GeneTreeiENSGT00550000075092.
HOGENOMiHOG000205390.
HOVERGENiHBG051498.
InParanoidiP18074.
KOiK10844.
OMAiDEVWKYK.
OrthoDBiEOG70W3CM.
PhylomeDBiP18074.
TreeFamiTF101232.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR006555. ATP-dep_Helicase_C.
IPR010614. DEAD_2.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR010643. DUF1227.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR027417. P-loop_NTPase.
IPR001945. XPGD_DNA_repair.
[Graphical view]
PfamiPF06733. DEAD_2. 1 hit.
PF06777. DUF1227. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view]
PRINTSiPR00852. XRODRMPGMNTD.
SMARTiSM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 4 hits.
TIGRFAMsiTIGR00604. rad3. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 AAM45142.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471G → R in XP-D.
VAR_008187
Natural varianti76 – 761T → A in XP-D.
VAR_017282
Natural varianti112 – 1121R → H in TTDP and XP-D. 3 Publications
VAR_003622
Natural varianti199 – 1991I → M.
Corresponds to variant rs1799791 [ dbSNP | Ensembl ].
VAR_011412
Natural varianti201 – 2011H → Y.
Corresponds to variant rs1799792 [ dbSNP | Ensembl ].
VAR_011413
Natural varianti234 – 2341D → N in XP-D.
VAR_008188
Natural varianti259 – 2591C → Y in TTDP. 1 Publication
VAR_008189
Natural varianti312 – 3121D → N.4 Publications
Corresponds to variant rs1799793 [ dbSNP | Ensembl ].
VAR_011414
Natural varianti461 – 4611L → V in XP-D and TTDP. 3 Publications
VAR_003623
Natural varianti482 – 4821Missing in TTDP. 1 Publication
VAR_008190
Natural varianti485 – 4851L → P in XP-D; the corresponding mutation in fission yeast causes complete loss of activity. 1 Publication
VAR_017283
Natural varianti487 – 4871R → G in TTDP.
VAR_017284
Natural varianti488 – 4936Missing in TTDP; mild. 1 Publication
VAR_003624
Natural varianti511 – 5111R → Q in XP-D.
VAR_017285
Natural varianti541 – 5411S → R in XP-D; mild. 1 Publication
Corresponds to variant rs121913019 [ dbSNP | Ensembl ].
VAR_003625
Natural varianti542 – 5421Y → C in XP-D.
VAR_008191
Natural varianti582 – 5832EK → VSE in XP-D. 1 Publication
VAR_017286
Natural varianti592 – 5921R → P in TTDP.
VAR_017287
Natural varianti594 – 5941A → P in TTDP.
VAR_017288
Natural varianti601 – 6011R → L in XP-D.
VAR_008192
Natural varianti601 – 6011R → W in XP-D.
VAR_017289
Natural varianti602 – 6021G → D in XP-D; combined with features of Cockayne syndrome.
VAR_003627
Natural varianti616 – 6161R → C.1 Publication
VAR_011415
Natural varianti616 – 6161R → P in XP-D and TTDP. 1 Publication
VAR_003626
Natural varianti616 – 6161R → W in XP-D and COFS2. 1 Publication
VAR_008193
Natural varianti658 – 6581R → C in TTDP. 2 Publications
VAR_008194
Natural varianti658 – 6581R → G in TTDP.
VAR_017290
Natural varianti658 – 6581R → H in TTDP.
VAR_008195
Natural varianti663 – 6631C → R in TTDP.
VAR_017291
Natural varianti666 – 6661R → W in XP-D.
VAR_017292
Natural varianti673 – 6731D → G in TTDP. 1 Publication
VAR_008196
Natural varianti675 – 6751G → R in XP-D/CS; severe form. 1 Publication
VAR_003628
Natural varianti681 – 6811D → N in XP-D and COFS2. 1 Publication
VAR_017293
Natural varianti683 – 6831R → Q in XP-D; CNS.
VAR_008197
Natural varianti683 – 6831R → W in XP-D; CNS; 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.
Corresponds to variant rs41556519 [ dbSNP | Ensembl ].
VAR_008198
Natural varianti713 – 7131G → R in TTDP. 2 Publications
VAR_008199
Natural varianti716 – 73015Missing in XP-D and TTDP. 1 Publication
VAR_003629Add
BLAST
Natural varianti722 – 7221R → W in TTDP. 2 Publications
VAR_003630
Natural varianti725 – 7251A → P in TTDP. 1 Publication
VAR_003631
Natural varianti751 – 7511K → Q May be linked to a reduced activity. 6 Publications
Corresponds to variant rs13181 [ dbSNP | Ensembl ].
VAR_011416

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2. 1 PublicationVSP_043132Add
BLAST
Alternative sequencei414 – 42916FTIII…TPTIA → QAQHCGSSRNQKRSHP in isoform 2. 1 PublicationVSP_043133Add
BLAST
Alternative sequencei430 – 760331Missing in isoform 2. 1 PublicationVSP_043134Add
BLAST

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]
XP_005258696.1. XM_005258639.1.
UniGeneiHs.487294.

Genome annotation databases

EnsembliENST00000391945; ENSP00000375809; ENSG00000104884. [P18074-1]
ENST00000485403; ENSP00000431229; ENSG00000104884. [P18074-2]
GeneIDi2068.
KEGGihsa:2068.
UCSCiuc002pbj.2. human. [P18074-1]
uc002pbl.4. human. [P18074-2]

Polymorphism databases

DMDMi119540.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Allelic variations of the XP genes
Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

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 .
CCDSi CCDS33049.1. [P18074-1 ]
CCDS46112.1. [P18074-2 ]
PIRi S10888.
RefSeqi NP_000391.1. NM_000400.3. [P18074-1 ]
NP_001124339.1. NM_001130867.1. [P18074-2 ]
XP_005258696.1. XM_005258639.1.
UniGenei Hs.487294.

3D structure databases

ProteinModelPortali P18074.
SMRi P18074. Positions 35-258.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108380. 26 interactions.
DIPi DIP-644N.
IntActi P18074. 9 interactions.
MINTi MINT-3008891.
STRINGi 9606.ENSP00000375809.

PTM databases

PhosphoSitei P18074.

Polymorphism databases

DMDMi 119540.

Proteomic databases

MaxQBi P18074.
PaxDbi P18074.
PRIDEi P18074.

Protocols and materials databases

DNASUi 2068.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000391945 ; ENSP00000375809 ; ENSG00000104884 . [P18074-1 ]
ENST00000485403 ; ENSP00000431229 ; ENSG00000104884 . [P18074-2 ]
GeneIDi 2068.
KEGGi hsa:2068.
UCSCi uc002pbj.2. human. [P18074-1 ]
uc002pbl.4. human. [P18074-2 ]

Organism-specific databases

CTDi 2068.
GeneCardsi GC19M045854.
GeneReviewsi ERCC2.
HGNCi HGNC:3434. ERCC2.
HPAi CAB005375.
HPA038057.
MIMi 126340. gene.
278730. phenotype.
601675. phenotype.
610756. phenotype.
neXtProti NX_P18074.
Orphaneti 1466. COFS syndrome.
33364. Trichothiodystrophy.
276258. Xeroderma pigmentosum complementation group D.
PharmGKBi PA27848.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1199.
GeneTreei ENSGT00550000075092.
HOGENOMi HOG000205390.
HOVERGENi HBG051498.
InParanoidi P18074.
KOi K10844.
OMAi DEVWKYK.
OrthoDBi EOG70W3CM.
PhylomeDBi P18074.
TreeFami TF101232.

Enzyme and pathway databases

Reactomei REACT_1074. RNA Polymerase I Transcription Termination.
REACT_1470. mRNA Capping.
REACT_160176. Cytosolic iron-sulfur cluster assembly.
REACT_1655. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
REACT_1851. RNA Polymerase II Transcription Initiation.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2089. RNA Polymerase II Promoter Escape.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22107. RNA Polymerase II Pre-transcription Events.
REACT_22201. Formation of HIV elongation complex in the absence of HIV Tat.
REACT_2222. Dual incision reaction in TC-NER.
REACT_257. Formation of incision complex in GG-NER.
REACT_311. Dual incision reaction in GG-NER.
REACT_6162. Tat-mediated elongation of the HIV-1 transcript.
REACT_6233. Transcription of the HIV genome.
REACT_6237. RNA Pol II CTD phosphorylation and interaction with CE.
REACT_6253. RNA Polymerase II HIV Promoter Escape.
REACT_6319. Formation of the HIV-1 Early Elongation Complex.
REACT_6332. HIV Transcription Initiation.
REACT_6346. Formation of HIV-1 elongation complex containing HIV-1 Tat.
REACT_833. RNA Polymerase II Transcription Elongation.
REACT_834. RNA Polymerase II Transcription Initiation And Promoter Clearance.
REACT_846. Formation of the Early Elongation Complex.
REACT_953. RNA Polymerase I Transcription Initiation.
REACT_975. RNA Pol II CTD phosphorylation and interaction with CE.

Miscellaneous databases

ChiTaRSi ERCC2. human.
GeneWikii ERCC2.
GenomeRNAii 2068.
NextBioi 8409.
PROi P18074.
SOURCEi Search...

Gene expression databases

Bgeei P18074.
CleanExi HS_ERCC2.
ExpressionAtlasi P18074. baseline and differential.
Genevestigatori P18074.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR006555. ATP-dep_Helicase_C.
IPR010614. DEAD_2.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR010643. DUF1227.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR027417. P-loop_NTPase.
IPR001945. XPGD_DNA_repair.
[Graphical view ]
Pfami PF06733. DEAD_2. 1 hit.
PF06777. DUF1227. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view ]
PRINTSi PR00852. XRODRMPGMNTD.
SMARTi SM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 4 hits.
TIGRFAMsi TIGR00604. rad3. 1 hit.
PROSITEi PS00690. DEAH_ATP_HELICASE. 1 hit.
PS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3."
    Weber C.A., Salazar E.P., Stewart S.A., Thompson L.H.
    EMBO J. 9:1437-1447(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fibroblast.
  2. "Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes."
    Lamerdin J.E., Stilwagen S.A., Ramirez M.H., Stubbs L., Carrano A.V.
    Genomics 34:399-409(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Fibroblast.
  3. NIEHS SNPs program
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASN-312 AND GLN-751.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-751.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-751.
    Tissue: Testis.
  7. "Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene."
    Fletjer W.L., McDaniel L.D., Johns D., Friedberg E.C., Schultz R.A.
    Proc. Natl. Acad. Sci. U.S.A. 89:261-265(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  8. "Human Xeroderma pigmentosum group D gene encodes a DNA helicase."
    Sung P., Bailly V., Weber C.A., Thompson L.H., Prakash L., Prakash S.
    Nature 365:852-855(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  9. "The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2."
    Tong X., Drapkin R., Reinberg D., Kieff E.
    Proc. Natl. Acad. Sci. U.S.A. 92:3259-3263(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EBV EBNA2.
  10. "Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes."
    Kershnar E., Wu S.-Y., Chiang C.-M.
    J. Biol. Chem. 273:34444-34453(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TFIIH BASAL TRANSCRIPTION FACTOR.
  11. "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH."
    Coin F., Marinoni J.-C., Rodolfo C., Fribourg S., Pedrini A.M., Egly J.-M.
    Nat. Genet. 20:184-188(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GTF2H2.
  12. "Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7."
    Tirode F., Busso D., Coin F., Egly J.-M.
    Mol. Cell 3:87-95(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF LYS-48, FUNCTION.
  13. "Selective regulation of vitamin D receptor-responsive genes by TFIIH."
    Drane P., Compe E., Catez P., Chymkowitch P., Egly J.-M.
    Mol. Cell 16:187-197(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, POSSIBLE PATHOLOGICAL MECHANISM OF VARIANT XP-D TRP-683.
  14. "Identification and Herc5-mediated ISGylation of novel target proteins."
    Takeuchi T., Inoue S., Yokosawa H.
    Biochem. Biophys. Res. Commun. 348:473-477(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: ISGYLATION.
  15. "MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity."
    Liu L., Ishihara K., Ichimura T., Fujita N., Hino S., Tomita S., Watanabe S., Saitoh N., Ito T., Nakao M.
    J. Biol. Chem. 284:5165-5174(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ATF7IP.
  16. "MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation."
    Ito S., Tan L.J., Andoh D., Narita T., Seki M., Hirano Y., Narita K., Kuraoka I., Hiraoka Y., Tanaka K.
    Mol. Cell 39:632-640(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN MMXD COMPLEX, INTERACTION WITH FAM196B, SUBCELLULAR LOCATION.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism."
    Gari K., Leon Ortiz A.M., Borel V., Flynn H., Skehel J.M., Boulton S.J.
    Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IRON-SULFUR-BINDING, COFACTOR, MUTAGENESIS OF CYS-190.
  19. "Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene."
    Frederick G.D., Amirkhan R.H., Schultz R.A., Friedberg E.C.
    Hum. Mol. Genet. 3:1783-1788(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XP-D VAL-461.
  20. "Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy."
    Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R.
    Nat. Genet. 7:189-194(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP HIS-112; PRO-616; TRP-722 AND 488-VAL--MET-493 DEL.
  21. "Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome."
    Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
    Am. J. Hum. Genet. 56:167-174(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XP-D ARG-675.
  22. "Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D."
    Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H., Weber C.A.
    Cancer Res. 55:5656-5663(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS XP-D.
  23. "Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy."
    Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A., Thompson L.H., Weber C.A.
    Am. J. Hum. Genet. 58:263-270(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP CYS-658 AND ARG-713.
  24. "Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms."
    Kobayashi T., Kuraoka I., Saijo M., Nakatsu Y., Tanaka A., Someda Y., Fukuro S., Tanaka K.
    Hum. Mutat. 9:322-331(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XP-D ARG-541.
  25. "DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient."
    Takayama K., Danks D.M., Salazar E.P., Cleaver J.E., Weber C.A.
    Hum. Mutat. 9:519-525(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP VAL-461; 716-VAL--ARG-730 DEL AND PRO-725.
  26. "Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene."
    Taylor E.M., Broughton B.C., Botta E., Stefanini M., Sarasin A., Jaspers N.G.J., Fawcett H., Harcourt S.A., Arlett C.F., Lehmann A.R.
    Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP/XP.
  27. "Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity."
    Botta E., Nardo T., Broughton B.C., Marinoni S., Lehmann A.R., Stefanini M.
    Am. J. Hum. Genet. 63:1036-1048(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP HIS-112; TYR-259; VAL-461; THR-482 DEL; GLY-673 AND TRP-722.
  28. "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
    Cleaver J.E., Thompson L.H., Richardson A.S., States J.C.
    Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS XP-D.
  29. "Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy."
    Graham J.M. Jr., Anyane-Yeboa K., Raams A., Appeldoorn E., Kleijer W.J., Garritsen V.H., Busch D., Edersheim T.G., Jaspers N.G.J.
    Am. J. Hum. Genet. 69:291-300(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS COFS2 TRP-616 AND ASN-681.
  30. "Associations between ercc2 polymorphisms and gliomas."
    Caggana M., Kilgallen J., Conroy J.M., Wiencke J.K., Kelsey K.T., Miike R., Chen P., Wrensch M.R.
    Cancer Epidemiol. Biomarkers Prev. 10:355-360(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-616.
  31. "Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients."
    Spitz M.R., Wu X., Wang Y., Wang L.E., Shete S., Amos C.I., Guo Z., Lei L., Mohrenweiser H., Wei Q.
    Cancer Res. 61:1354-1357(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASN-312 AND GLN-751.
  32. "XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ."
    Hemminki K., Xu G., Angelini S., Snellman E., Jansen C.T., Lambert B., Hou S.M.
    Carcinogenesis 22:1185-1188(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASN-312 AND GLN-751.
  33. "The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases."
    Lehmann A.R.
    Genes Dev. 15:15-23(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  34. "Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene."
    Broughton B.C., Berneburg M., Fawcett H., Taylor E.M., Arlett C.F., Nardo T., Stefanini M., Menefee E., Price V.H., Queille S., Sarasin A., Bohnert E., Krutmann J., Davidson R., Kraemer K.H., Lehmann A.R.
    Hum. Mol. Genet. 10:2539-2547(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS XP-D HIS-112; PRO-485 AND 582-GLU-LYS-583 DELINS VAL-SER-GLU, VARIANTS ASN-312 AND GLN-751.
  35. "A temperature-sensitive disorder in basal transcription and DNA repair in humans."
    Vermeulen W., Rademakers S., Jaspers N.G.J., Appeldoorn E., Raams A., Klein B., Kleijer W.J., Hansen L.K., Hoeijmakers J.H.J.
    Nat. Genet. 27:299-303(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TTDP CYS-658 AND ARG-713.

Entry informationi

Entry nameiERCC2_HUMAN
AccessioniPrimary (citable) accession number: P18074
Secondary accession number(s): Q2TB78
, Q2YDY2, Q7KZU6, Q8N721
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: November 1, 1990
Last modified: November 26, 2014
This is version 181 of the entry and version 1 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

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