• Gene id: 1663

Gene Summary

• Gene Symbol: DDX11   Gene   UCSC   Ensembl
• Aliases: CHL1, CHLR1, KRG2, WABS
• Gene name: DEAD/H-box helicase 11
• Alternate names: ATP-dependent DNA helicase DDX11, CHL1-like helicase homolog, CHL1-related helicase gene-1, CHL1-related protein 1, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae), DEAD/H,
• Gene location: 12p11.21 (31073859: 31104798)     Exons: 33     NC_000012.12
• Gene summary(Entrez): DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and m
• OMIM: 615276

Protein Summary

• Protein general information: Q96FC9  
  • Name: ATP dependent DNA helicase DDX11 (EC 3.6.4.12) (CHL1 related protein 1) (hCHLR1) (DEAD/H box protein 11) (Keratinocyte growth factor regulated gene 2 protein) (KRG 2)
  • Length: 970  
  • Mass: 108313
  • Tissue specificity: Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed
• Sequence:

  MANETQKVGAIHFPFPFTPYSIQEDFMAELYRVLEAGKIGIFESPTGTGKSLSLICGALSWLRDFEQKKREEEAR
  LLETGTGPLHDEKDESLCLSSSCEGAAGTPRPAGEPAWVTQFVQKKEERDLVDRLKAEQARRKQREERLQQLQHR
  VQLKYAAKRLRQEEEERENLLRLSREMLETGPEAERLEQLESGEEELVLAEYESDEEKKVASRVDEDEDDLEEEH
  ITKIYYCSRTHSQLAQFVHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLINDRCVDMQRSRHEKKKGAE
  EEKPKRRRQEKQAACPFYNHEQMGLLRDEALAEVKDMEQLLALGKEARACPYYGSRLAIPAAQLVVLPYQMLLHA
  ATRQAAGIRLQDQVVIIDEAHNLIDTITGMHSVEVSGSQLCQAHSQLLQYVERYGKRLKAKNLMYLKQILYLLEK
  FVAVLGGNIKQNPNTQSLSQTGTELKTINDFLFQSQIDNINLFKVQRYCEKSMISRKLFGFTERYGAVFSSREQP
  KLAGFQQFLQSLQPRTTEALAAPADESQASTLRPASPLMHIQGFLAALTTANQDGRVILSRQGSLSQSTLKFLLL
  NPAVHFAQVVKECRAVVIAGGTMQPVSDFRQQLLACAGVEAERVVEFSCGHVIPPDNILPLVICSGISNQPLEFT
  FQKRELPQMMDEVGRILCNLCGVVPGGVVCFFPSYEYLRQVHAHWEKGGLLGRLAARKKIFQEPKSAHQVEQVLL
  AYSRCIQACGQERGQVTGALLLSVVGGKMSEGINFSDNLGRCVVMVGMPFPNIRSAELQEKMAYLDQTLSPRPGT
  PREGSGGEPVHEGRQPVHRQGHQAPEGFCQRSAPGPAICPAPCPGQAAGLDPSPCGGQSYLWPRHCCCAEVSPGE
  VGLFLMGNHTTAWRRALPLSCPLETVFVVGVVCGDPVTKVKPRRRVWSPECCQDPGTGVSSRRRKWGNPE

• Structural information:
  • Protein Domains: (9..44-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541"-)
  • Interpro: IPR006555  IPR028331  IPR010614  IPR014013  IPR006554   IPR027417  IPR013020  
  • Prosite: PS51193
  • STRING: ENSP00000440402
• Other Databases: GeneCards:  DDX11  Malacards:  DDX11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034085	establishment of sister chromatid cohesion	IBA	biological process
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0045142	triplex DNA binding	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0004386	helicase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0030892	mitotic cohesin complex	IDA	NOT|colocalizes with
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0007062	sister chromatid cohesion	IDA	biological process
GO:0004386	helicase activity	IDA	molecular function
GO:0044806	G-quadruplex DNA unwinding	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0051880	G-quadruplex DNA binding	IDA	molecular function
GO:0035563	positive regulation of chromatin binding	IDA	biological process
GO:0031390	Ctf18 RFC-like complex	IDA	colocalizes with
GO:0032079	positive regulation of endodeoxyribonuclease activity	IDA	biological process
GO:0008186	RNA-dependent ATPase activity	IDA	molecular function
GO:0003727	single-stranded RNA binding	IDA	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0005634	nucleus	IDA	colocalizes with
GO:0000922	spindle pole	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0031297	replication fork processing	IMP	biological process
GO:0003682	chromatin binding	IMP	molecular function
GO:1990700	nucleolar chromatin organization	IMP	biological process
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0008094	DNA-dependent ATPase activity	IMP	molecular function
GO:0045876	positive regulation of sister chromatid cohesion	IMP	biological process
GO:0003682	chromatin binding	IMP	molecular function
GO:0045876	positive regulation of sister chromatid cohesion	IMP	biological process
GO:1904976	cellular response to bleomycin	IMP	biological process
GO:0072719	cellular response to cisplatin	IMP	biological process
GO:0003688	DNA replication origin binding	IMP	molecular function
GO:0003682	chromatin binding	IMP	molecular function
GO:0045876	positive regulation of sister chromatid cohesion	IMP	biological process
GO:0072711	cellular response to hydroxyurea	IMP	biological process
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072711	cellular response to hydroxyurea	IMP	biological process
GO:2000781	positive regulation of double-strand break repair	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004386	helicase activity	TAS	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Warsaw breakage syndrome	KEGG:H00914
Warsaw breakage syndrome	KEGG:H00914
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq