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Q96FC9

- DDX11_HUMAN

UniProt

Q96FC9 - DDX11_HUMAN

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
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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 binding Source: UniProtKB-KW
    5. DNA-dependent ATPase activity Source: UniProtKB
    6. DNA helicase activity Source: ProtInc
    7. helicase activity Source: UniProtKB
    8. metal ion binding Source: UniProtKB-KW
    9. protein binding Source: UniProtKB
    10. RNA binding Source: UniProtKB-KW

    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. DNA duplex unwinding Source: GOC
    5. endoplasmic reticulum unfolded protein response Source: Reactome
    6. G2/M transition of mitotic cell cycle Source: ProtInc
    7. mitotic sister chromatid segregation Source: ProtInc
    8. mitotic S phase Source: ProtInc
    9. positive regulation of cell proliferation Source: ProtInc
    10. sister chromatid cohesion Source: UniProtKB
    11. viral process Source: UniProtKB-KW

    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: ProtInc
    4. nucleoplasm Source: Reactome
    5. nucleus Source: HPA
    6. spindle pole Source: UniProtKB

    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

    ArrayExpressiQ96FC9.
    BgeeiQ96FC9.
    CleanExiHS_CHL1.
    HS_DDX11.
    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. 9 interactions.
    IntActiQ96FC9. 2 interactions.
    MINTiMINT-1371028.
    STRINGi9606.ENSP00000384703.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96FC9.
    SMRiQ96FC9. Positions 15-58, 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.
    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

    MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK    50
    SLSLICGALS WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG 100
    AAGTPRPAGE PAWVTQFVQK KEERDLVDRL KAEQARRKQR EERLQQLQHR 150
    VQLKYAAKRL RQEEEERENL LRLSREMLET GPEAERLEQL ESGEEELVLA 200
    EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA QFVHEVKKSP 250
    FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE 300
    EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC 350
    PYYGSRLAIP AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID 400
    TITGMHSVEV SGSQLCQAHS QLLQYVERYG KRLKAKNLMY LKQILYLLEK 450
    FVAVLGGNIK QNPNTQSLSQ TGTELKTIND FLFQSQIDNI NLFKVQRYCE 500
    KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR TTEALAAPAD 550
    ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL 600
    NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG 650
    HVIPPDNILP LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP 700
    GGVVCFFPSY EYLRQVHAHW EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL 750
    AYSRCIQACG QERGQVTGAL LLSVVGGKMS EGINFSDNLG RCVVMVGMPF 800
    PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ PVHRQGHQAP 850
    EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE 900
    VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE 950
    CCQDPGTGVS SRRRKWGNPE 970
    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.
    The sequence CAA67895.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 15-58, 224-801.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108028. 9 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.
    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

    ArrayExpressi Q96FC9.
    Bgeei Q96FC9.
    CleanExi HS_CHL1.
    HS_DDX11.
    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

    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: October 1, 2014
    This is version 114 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