Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q96FC9

- DDX11_HUMAN

UniProt

Q96FC9 - DDX11_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Probable ATP-dependent RNA helicase DDX11

Gene

DDX11

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

Functioni

DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities. This helicase translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC (replication factor C) complex activities. Stimulates the flap endonuclease activity of FEN1. Required for normal sister chromatid cohesion. Required for recruitment of bovine papillomavirus type 1 regulatory protein E2 to mitotic chrmosomes and for viral genome maintenance. Required for maintaining the chromosome segregation and is essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M phase of the cell cycle. Binds to both single- and double-stranded DNA.5 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.1 Publication

Cofactori

[4Fe-4S] clusterBy similarityNote: Binds 1 [4Fe-4S] cluster.By similarity

Enzyme regulationi

Helicase shows maximal activity with magnesium ions at low concentrations (0.5-1mM) whereas is markedly inhibited at higher levels (5 mM and above). Stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate. The ATPase activity is stimulated by high salt levels (up to a 0.1 M) and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi267 – 2671Iron-sulfur (4Fe-4S)By similarity
Metal bindingi285 – 2851Iron-sulfur (4Fe-4S)By similarity
Metal bindingi315 – 3151Iron-sulfur (4Fe-4S)By similarity
Metal bindingi350 – 3501Iron-sulfur (4Fe-4S)By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi44 – 518ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  2. ATP binding Source: UniProtKB-KW
  3. ATP-dependent DNA helicase activity Source: InterPro
  4. DNA-dependent ATPase activity Source: UniProtKB
  5. double-stranded DNA binding Source: UniProtKB
  6. helicase activity Source: UniProtKB
  7. metal ion binding Source: UniProtKB-KW
  8. RNA binding Source: UniProtKB-KW
  9. single-stranded DNA binding Source: UniProtKB

GO - Biological processi

  1. activation of signaling protein activity involved in unfolded protein response Source: Reactome
  2. ATP catabolic process Source: GOC
  3. cellular protein metabolic process Source: Reactome
  4. endoplasmic reticulum unfolded protein response Source: Reactome
  5. sister chromatid cohesion Source: UniProtKB
  6. viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

Cell cycle, Host-virus interaction

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_18273. XBP1(S) activates chaperone genes.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX11 (EC:3.6.4.13)
Alternative name(s):
CHL1-related protein 1
Short name:
hCHLR1
DEAD/H box protein 11
Keratinocyte growth factor-regulated gene 2 protein
Short name:
KRG-2
Gene namesi
Name:DDX11
Synonyms:CHL1, CHLR1, KRG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:2736. DDX11.

Subcellular locationi

Nucleus 1 Publication. Nucleusnucleolus 1 Publication
Note: During the early stages of mitosis, localizes to condensed chromatin and is released from the chromatin with progression to metaphase. Also localizes to the spindle poles throughout mitosis and at the midbody at later stages of mitosis (metaphase to telophase). Co-localizes with bovine papillomavirus type 1 regulatory protein E2 at early stages of mitosis.

GO - Cellular componenti

  1. midbody Source: UniProtKB
  2. nuclear chromatin Source: UniProtKB
  3. nucleolus Source: UniProtKB
  4. nucleoplasm Source: Reactome
  5. nucleus Source: HPA
  6. spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Warsaw breakage syndrome (WBRS) [MIM:613398]: A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti263 – 2631R → Q in WBRS; impairs the enzyme helicase activity by perturbing its DNA binding and DNA-dependent ATP hydrolysis. 1 Publication
VAR_069099

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi50 – 501K → R: Loss of both helicase and ATPase activity. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613398. phenotype.
Orphaneti280558. Warsaw breakage syndrome.
PharmGKBiPA27201.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 970970Probable ATP-dependent RNA helicase DDX11PRO_0000055136Add
BLAST

Proteomic databases

MaxQBiQ96FC9.
PaxDbiQ96FC9.
PRIDEiQ96FC9.

PTM databases

PhosphoSiteiQ96FC9.

Expressioni

Tissue specificityi

Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine, and pancreas. Very low expression seen in the brain. Expressed in dividing cells and/or cells undergoing high levels of recombination. No expression is seen in cells signaled to terminally differentiate. Expressed in keratinocyte growth factor-stimulated cells but not in serum, EGF and IL1-beta-treated keratinocytes.2 Publications

Gene expression databases

BgeeiQ96FC9.
CleanExiHS_CHL1.
HS_DDX11.
ExpressionAtlasiQ96FC9. baseline and differential.
GenevestigatoriQ96FC9.

Organism-specific databases

HPAiHPA047228.
HPA049167.

Interactioni

Subunit structurei

Interacts with the CTF18-RFC complex, PCNA and FEN1. Forms a complex with RAD21, SMC1 and SMC3. Interacts with bovine papillomavirus type 1 regulatory protein E2.2 Publications

Protein-protein interaction databases

BioGridi108028. 11 interactions.
IntActiQ96FC9. 2 interactions.
MINTiMINT-1371028.
STRINGi9606.ENSP00000384703.

Structurei

3D structure databases

ProteinModelPortaliQ96FC9.
SMRiQ96FC9. Positions 224-801.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 445437Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi393 – 3964DEAH

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi163 – 22462Glu-richAdd
BLAST

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG1199.
GeneTreeiENSGT00530000063199.
HOVERGENiHBG058884.
InParanoidiQ96FC9.
KOiK11273.
OMAiELYENMC.
OrthoDBiEOG7ZD1TW.
PhylomeDBiQ96FC9.
TreeFamiTF300435.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR006555. ATP-dep_Helicase_C.
IPR028331. DDX11/DDX12.
IPR010614. DEAD_2.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11472:SF35. PTHR11472:SF35. 1 hit.
PfamiPF06733. DEAD_2. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view]
SMARTiSM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
TIGRFAMsiTIGR00604. rad3. 1 hit.
PROSITEiPS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96FC9-1) [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
MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK
60 70 80 90 100
SLSLICGALS WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG
110 120 130 140 150
AAGTPRPAGE PAWVTQFVQK KEERDLVDRL KAEQARRKQR EERLQQLQHR
160 170 180 190 200
VQLKYAAKRL RQEEEERENL LRLSREMLET GPEAERLEQL ESGEEELVLA
210 220 230 240 250
EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA QFVHEVKKSP
260 270 280 290 300
FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
310 320 330 340 350
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC
360 370 380 390 400
PYYGSRLAIP AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID
410 420 430 440 450
TITGMHSVEV SGSQLCQAHS QLLQYVERYG KRLKAKNLMY LKQILYLLEK
460 470 480 490 500
FVAVLGGNIK QNPNTQSLSQ TGTELKTIND FLFQSQIDNI NLFKVQRYCE
510 520 530 540 550
KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR TTEALAAPAD
560 570 580 590 600
ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
610 620 630 640 650
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG
660 670 680 690 700
HVIPPDNILP LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP
710 720 730 740 750
GGVVCFFPSY EYLRQVHAHW EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL
760 770 780 790 800
AYSRCIQACG QERGQVTGAL LLSVVGGKMS EGINFSDNLG RCVVMVGMPF
810 820 830 840 850
PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ PVHRQGHQAP
860 870 880 890 900
EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
910 920 930 940 950
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE
960 970
CCQDPGTGVS SRRRKWGNPE
Length:970
Mass (Da):108,313
Last modified:December 1, 2001 - v1
Checksum:i5BF49FE74E912B48
GO
Isoform 2 (identifier: Q96FC9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     820-906: SPRPGTPREG...SPGEVGLFLM → PRAPGQAPPG...KFHREKSASS
     907-970: Missing.

Show »
Length:906
Mass (Da):101,685
Checksum:iBC51D55CB3186C91
GO
Isoform 3 (identifier: Q96FC9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
     820-906: SPRPGTPREG...SPGEVGLFLM → PRAPGQAPPG...KFHREKSASS
     907-970: Missing.

Show »
Length:880
Mass (Da):98,687
Checksum:iE0D7B88158ABA02A
GO
Isoform 4 (identifier: Q96FC9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     685-734: Missing.
     820-906: SPRPGTPREG...SPGEVGLFLM → PRAPGQAPPG...KFHREKSASS
     907-970: Missing.

Show »
Length:856
Mass (Da):96,128
Checksum:i30C866F69D6ABD34
GO
Isoform 5 (identifier: Q96FC9-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-288: VDEDEDDLEE...QLINDRCVDM → APSDATSSRH...RMRMTWRKNT
     289-970: Missing.

Show »
Length:288
Mass (Da):32,951
Checksum:i78E0917712BBC6B0
GO

Sequence cautioni

The sequence CAA67895.1 differs from that shown. Reason: Frameshift at positions 644 and 648. Curated
The sequence CAA67895.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391I → S.1 Publication
Corresponds to variant rs1046454 [ dbSNP | Ensembl ].
VAR_024808
Natural varianti263 – 2631R → Q in WBRS; impairs the enzyme helicase activity by perturbing its DNA binding and DNA-dependent ATP hydrolysis. 1 Publication
VAR_069099
Natural varianti567 – 5671Q → E.2 Publications
Corresponds to variant rs2075322 [ dbSNP | Ensembl ].
VAR_024809
Natural varianti575 – 5751T → M.1 Publication
Corresponds to variant rs17857386 [ dbSNP | Ensembl ].
VAR_024810
Natural varianti856 – 8561R → H.
Corresponds to variant rs1046457 [ dbSNP | Ensembl ].
VAR_052175
Natural varianti864 – 8641C → R.
Corresponds to variant rs3893679 [ dbSNP | Ensembl ].
VAR_052176
Natural varianti951 – 9511C → R.
Corresponds to variant rs1046458 [ dbSNP | Ensembl ].
VAR_052177
Natural varianti966 – 9661W → C.
Corresponds to variant rs14330 [ dbSNP | Ensembl ].
VAR_052178

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2626Missing in isoform 3. 1 PublicationVSP_016860Add
BLAST
Alternative sequencei214 – 28875VDEDE…RCVDM → APSDATSSRHPPDASFPAAL NFLQRTRPSSVLSEDLLMQR AVAKHPALLPWQMSSSPLRP GSEWMRMRMTWRKNT in isoform 5. 1 PublicationVSP_016861Add
BLAST
Alternative sequencei289 – 970682Missing in isoform 5. 1 PublicationVSP_016862Add
BLAST
Alternative sequencei685 – 73450Missing in isoform 4. 1 PublicationVSP_016863Add
BLAST
Alternative sequencei820 – 90687SPRPG…GLFLM → PRAPGQAPPGKALVENLCMK AVNQSIGRAIRHQKDFASVV LLDQRYARPPVLAKLPAWIR ARVEVKATFGPAIAAVQKFH REKSASS in isoform 2, isoform 3 and isoform 4. 4 PublicationsVSP_016864Add
BLAST
Alternative sequencei907 – 97064Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsVSP_016865Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99583 mRNA. Translation: CAA67895.1. Sequence problems.
U33833 mRNA. Translation: AAB06962.1.
U75967 mRNA. Translation: AAB18749.1.
U75968 mRNA. Translation: AAB18750.1.
BC050069 mRNA. Translation: AAH50069.1.
BC050522 mRNA. Translation: AAH50522.1.
CCDSiCCDS41767.1. [Q96FC9-2]
CCDS44856.1. [Q96FC9-1]
CCDS58224.1. [Q96FC9-3]
CCDS8721.1. [Q96FC9-4]
PIRiG02071.
RefSeqiNP_001244073.1. NM_001257144.1. [Q96FC9-1]
NP_001244074.1. NM_001257145.1. [Q96FC9-3]
NP_004390.3. NM_004399.2. [Q96FC9-4]
NP_689651.1. NM_152438.1. [Q96FC9-1]
UniGeneiHs.443960.

Genome annotation databases

EnsembliENST00000228264; ENSP00000228264; ENSG00000013573. [Q96FC9-3]
ENST00000350437; ENSP00000309965; ENSG00000013573. [Q96FC9-4]
ENST00000435753; ENSP00000406799; ENSG00000013573. [Q96FC9-5]
ENST00000542838; ENSP00000443426; ENSG00000013573. [Q96FC9-2]
ENST00000545668; ENSP00000440402; ENSG00000013573. [Q96FC9-1]
GeneIDi1663.
KEGGihsa:1663.
UCSCiuc001rjr.1. human. [Q96FC9-2]
uc001rjs.1. human. [Q96FC9-4]
uc001rjt.1. human. [Q96FC9-1]
uc001rju.1. human. [Q96FC9-3]

Polymorphism databases

DMDMi74731686.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 (DDX11)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99583 mRNA. Translation: CAA67895.1 . Sequence problems.
U33833 mRNA. Translation: AAB06962.1 .
U75967 mRNA. Translation: AAB18749.1 .
U75968 mRNA. Translation: AAB18750.1 .
BC050069 mRNA. Translation: AAH50069.1 .
BC050522 mRNA. Translation: AAH50522.1 .
CCDSi CCDS41767.1. [Q96FC9-2 ]
CCDS44856.1. [Q96FC9-1 ]
CCDS58224.1. [Q96FC9-3 ]
CCDS8721.1. [Q96FC9-4 ]
PIRi G02071.
RefSeqi NP_001244073.1. NM_001257144.1. [Q96FC9-1 ]
NP_001244074.1. NM_001257145.1. [Q96FC9-3 ]
NP_004390.3. NM_004399.2. [Q96FC9-4 ]
NP_689651.1. NM_152438.1. [Q96FC9-1 ]
UniGenei Hs.443960.

3D structure databases

ProteinModelPortali Q96FC9.
SMRi Q96FC9. Positions 224-801.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108028. 11 interactions.
IntActi Q96FC9. 2 interactions.
MINTi MINT-1371028.
STRINGi 9606.ENSP00000384703.

PTM databases

PhosphoSitei Q96FC9.

Polymorphism databases

DMDMi 74731686.

Proteomic databases

MaxQBi Q96FC9.
PaxDbi Q96FC9.
PRIDEi Q96FC9.

Protocols and materials databases

DNASUi 1663.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000228264 ; ENSP00000228264 ; ENSG00000013573 . [Q96FC9-3 ]
ENST00000350437 ; ENSP00000309965 ; ENSG00000013573 . [Q96FC9-4 ]
ENST00000435753 ; ENSP00000406799 ; ENSG00000013573 . [Q96FC9-5 ]
ENST00000542838 ; ENSP00000443426 ; ENSG00000013573 . [Q96FC9-2 ]
ENST00000545668 ; ENSP00000440402 ; ENSG00000013573 . [Q96FC9-1 ]
GeneIDi 1663.
KEGGi hsa:1663.
UCSCi uc001rjr.1. human. [Q96FC9-2 ]
uc001rjs.1. human. [Q96FC9-4 ]
uc001rjt.1. human. [Q96FC9-1 ]
uc001rju.1. human. [Q96FC9-3 ]

Organism-specific databases

CTDi 1663.
GeneCardsi GC12P031226.
HGNCi HGNC:2736. DDX11.
HPAi HPA047228.
HPA049167.
MIMi 601150. gene.
613398. phenotype.
neXtProti NX_Q96FC9.
Orphaneti 280558. Warsaw breakage syndrome.
PharmGKBi PA27201.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1199.
GeneTreei ENSGT00530000063199.
HOVERGENi HBG058884.
InParanoidi Q96FC9.
KOi K11273.
OMAi ELYENMC.
OrthoDBi EOG7ZD1TW.
PhylomeDBi Q96FC9.
TreeFami TF300435.

Enzyme and pathway databases

Reactomei REACT_18273. XBP1(S) activates chaperone genes.

Miscellaneous databases

GeneWikii DDX11.
GenomeRNAii 1663.
NextBioi 6842.
PROi Q96FC9.
SOURCEi Search...

Gene expression databases

Bgeei Q96FC9.
CleanExi HS_CHL1.
HS_DDX11.
ExpressionAtlasi Q96FC9. baseline and differential.
Genevestigatori Q96FC9.

Family and domain databases

Gene3Di 3.40.50.300. 4 hits.
InterProi IPR006555. ATP-dep_Helicase_C.
IPR028331. DDX11/DDX12.
IPR010614. DEAD_2.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR11472:SF35. PTHR11472:SF35. 1 hit.
Pfami PF06733. DEAD_2. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view ]
SMARTi SM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 3 hits.
TIGRFAMsi TIGR00604. rad3. 1 hit.
PROSITEi PS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor regulated gene."
    Frank S., Werner S.
    J. Biol. Chem. 271:24337-24340(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, INDUCTION, VARIANT SER-39.
    Tissue: Keratinocyte.
  2. "Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1."
    Amann J., Kidd V.J., Lahti J.M.
    J. Biol. Chem. 272:3823-3832(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, VARIANT GLU-567.
  3. "Isolation and characterization of the human homologue of the yeast CHL1 gene."
    Ouellette M.M., Wright W.E., Shay J.W.
    Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5), VARIANTS GLU-567 AND MET-575.
  4. "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] (ISOFORMS 1 AND 3).
    Tissue: Testis and Uterus.
  5. "Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase."
    Hirota Y., Lahti J.M.
    Nucleic Acids Res. 28:917-924(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ENZYME ACTIVITY, FUNCTION.
  6. "The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells."
    Parish J.L., Rosa J., Wang X., Lahti J.M., Doxsey S.J., Androphy E.J.
    J. Cell Sci. 119:4857-4865(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, COMPLEX FORMATION WITH RAD21; SMC1 AND SMC3.
  7. "ChlR1 is required for loading papillomavirus E2 onto mitotic chromosomes and viral genome maintenance."
    Parish J.L., Bean A.M., Park R.B., Androphy E.J.
    Mol. Cell 24:867-876(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH BOVINE PAPILLOMAVIRUS TYPE 1 REGULATORY PROTEIN E2.
  8. "Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1."
    Farina A., Shin J.H., Kim D.H., Bermudez V.P., Kelman Z., Seo Y.S., Hurwitz J.
    J. Biol. Chem. 283:20925-20936(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ENZYME REGULATION, INTERACTION WITH FEN1, PCNA AND CTF18-RFC COMPLEX, MUTAGENESIS OF LYS-50.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1."
    van der Lelij P., Chrzanowska K.H., Godthelp B.C., Rooimans M.A., Oostra A.B., Stumm M., Zdzienicka M.Z., Joenje H., de Winter J.P.
    Am. J. Hum. Genet. 86:262-266(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN WBRS.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome."
    Capo-Chichi J.M., Bharti S.K., Sommers J.A., Yammine T., Chouery E., Patry L., Rouleau G.A., Samuels M.E., Hamdan F.F., Michaud J.L., Brosh R.M. Jr., Megarbane A., Kibar Z.
    Hum. Mutat. 34:103-107(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WBRS GLN-263, CHARACTERIZATION OF VARIANT WBRS GLN-263.

Entry informationi

Entry nameiDDX11_HUMAN
AccessioniPrimary (citable) accession number: Q96FC9
Secondary accession number(s): Q13333
, Q86VQ4, Q86W62, Q92498, Q92770, Q92998, Q92999
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: December 1, 2001
Last modified: November 26, 2014
This is version 116 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 12
    Human chromosome 12: 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

Dasty 3