DDX11 - DEAD/H-box helicase 11 Gene

Also Known as CHL1; KRG2; WABS; CHLR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1663

About DDX11

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:31,073,860-31,104,799 (from NCBI)

This gene has 30 transcripts (splice variants), 195 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.8), lymph node (RPKM 4.6) and 25 other tissues.

Summary

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 mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

DDX11 Products (19)

mRNA	Protein	Name
NM_001257144.2	NP_001244073.1	ATP-dependent DNA helicase DDX11 isoform 3
NM_001257145.2	NP_001244074.1	ATP-dependent DNA helicase DDX11 isoform 4
NM_001413692.1	NP_001400621.1	ATP-dependent DNA helicase DDX11 isoform 1
NM_001413693.1	NP_001400622.1	ATP-dependent DNA helicase DDX11 isoform 1
NM_001413694.1	NP_001400623.1	ATP-dependent DNA helicase DDX11 isoform 1
NM_001413695.1	NP_001400624.1	ATP-dependent DNA helicase DDX11 isoform 3
NM_001413696.1	NP_001400625.1	ATP-dependent DNA helicase DDX11 isoform 3
NM_001413697.1	NP_001400626.1	ATP-dependent DNA helicase DDX11 isoform 4
NM_001413698.1	NP_001400627.1	ATP-dependent DNA helicase DDX11 isoform 4
NM_001413699.1	NP_001400628.1	ATP-dependent DNA helicase DDX11 isoform 5
NM_001413700.1	NP_001400629.1	ATP-dependent DNA helicase DDX11 isoform 6
NM_001413702.1	NP_001400631.1	ATP-dependent DNA helicase DDX11 isoform 7
NM_001413703.1	NP_001400632.1	ATP-dependent DNA helicase DDX11 isoform 7
NM_001413704.1	NP_001400633.1	ATP-dependent DNA helicase DDX11 isoform 8
NM_001413705.1	NP_001400634.1	ATP-dependent DNA helicase DDX11 isoform 9
NM_001413706.1	NP_001400635.1	ATP-dependent DNA helicase DDX11 isoform 10
NM_004399.3	NP_004390.3	ATP-dependent DNA helicase DDX11 isoform 2
NM_030653.4	NP_085911.2	ATP-dependent DNA helicase DDX11 isoform 1
NM_152438.2	NP_689651.1	ATP-dependent DNA helicase DDX11 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' DNA helicase activity	IDA IDA: Inferred from direct assay	18499658	GOA
enables ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	10648783	GOA
enables ATP-dependent activity, acting on DNA	IMP IMP: Inferred from mutant phenotype	26089203	GOA
enables ATP-dependent activity, acting on RNA	IDA IDA: Inferred from direct assay	27477908	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	26503245	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	26503245	GOA
enables DNA replication origin binding	IMP IMP: Inferred from mutant phenotype	27477908	GOA
enables G-quadruplex DNA binding	IDA IDA: Inferred from direct assay	26503245	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	26503245	GOA
enables chromatin binding	IMP IMP: Inferred from mutant phenotype	20124417	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	9013641	GOA
enables helicase activity	IDA IDA: Inferred from direct assay	10648783	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17105772	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	9013641	GOA
enables single-stranded RNA binding	IDA IDA: Inferred from direct assay	27477908	GOA
enables triplex DNA binding	IDA IDA: Inferred from direct assay	26503245	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	23797032	GOA
involved in DNA duplex unwinding	IDA IDA: Inferred from direct assay	10648783	GOA
involved in G-quadruplex DNA unwinding	IDA IDA: Inferred from direct assay	26503245	GOA
involved in cellular response to bleomycin	IMP IMP: Inferred from mutant phenotype	23797032	GOA
involved in cellular response to cisplatin	IMP IMP: Inferred from mutant phenotype	23797032	GOA
involved in cellular response to hydroxyurea	IMP IMP: Inferred from mutant phenotype	23797032	GOA
involved in negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	26089203	GOA
involved in nucleolar chromatin organization	IMP IMP: Inferred from mutant phenotype	26089203	GOA
involved in positive regulation of chromatin binding	IDA IDA: Inferred from direct assay	26089203	GOA
involved in positive regulation of double-strand break repair	IMP IMP: Inferred from mutant phenotype	23797032	GOA
involved in positive regulation of endodeoxyribonuclease activity	IDA IDA: Inferred from direct assay	18499658	GOA
involved in positive regulation of sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	18499658	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	26089203	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	26503245	GOA
involved in sister chromatid cohesion	IDA IDA: Inferred from direct assay	17105772	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Ctf18 RFC-like complex	IDA IDA: Inferred from direct assay	18499658	GOA
located in centrosome	IDA IDA: Inferred from direct assay	17105772	GOA
located in chromatin	IDA IDA: Inferred from direct assay	17105772	GOA
located in midbody	IDA IDA: Inferred from direct assay	17105772	GOA
NOT part of mitotic cohesin complex	IDA IDA: Inferred from direct assay	17105772	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9013641	GOA
colocalizes with nucleus	IDA IDA: Inferred from direct assay	17189189	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	17105772	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDX11 Protein Structure

DEAD_2

Helicase_C_2

0
200
400
600
800
970 a.a.

Protein Preferred Names	Protein Names
ATP-dependent DNA helicase DDX11	CHL1-like helicase homolog

Related Diseases

Diseases	Alias
Warsaw Breakage Syndrome	WABS WBRS
Chronic Atrial And Intestinal Dysrhythmia	CAID Caid Syndrome Cohesinopathy Affecting Heart And Gut Rhythm Chronic Atrial Intestinal Dysrhythmia Syndrome Chronic Atrial And Intestinal Dysrhythmia Syndrome Chronic Atrial Dysrhythmia-Intestinal Motility Disorder Dysrhythmia, Atrial And Intestinal, Chronic
Dyskeratosis Congenita, Autosomal Recessive 5	Dyskeratosis Congenita, Autosomal Dominant, 4 DKCB5 Autosomal Dominant Dyskeratosis Congenita 4 DKCA4 Autosomal Recessive Dyskeratosis Congenita 5 Dyskeratosis Congenita, Autosomal Recessive, 5 Dyskeratosis Congenita, Autosomal Dominant 4 Dyskeratosis Congenita, Autosomal Recessive, Type 5
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
Roberts-Sc Phocomelia Syndrome	Roberts Syndrome Sc Phocomelia Syndrome RBS Long Bone Deficiencies Associated With Cleft Lip-Palate Sc Pseudothalidomide Syndrome Appelt-Gerken-Lenz Syndrome Pseudothalidomide Syndrome Tetraphocomelia-Cleft Palate Syndrome Hypomelia Hypotrichosis Facial Hemangioma Syndrome Roberts Syndrome/Sc Phocomelia Roberts Tetraphocomelia Syndrome Sc Syndrome Sc Phocomelia Sc Disease Sc Hemoglobin Sc Disease
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum, Group D Xpdc Xeroderma Pigmentosum Iv XPD Xeroderma Pigmentosum Group D Xeroderma Pigmentosum Viii Xp Group D Xp Group H Xp4 Xp8 Xph Xp, Group D Xp4 Xeroderma Pigmentosum Viii, Formerly Xp8, Formerly Xp, Group H, Formerly Xph, Formerly Xeroderma Pigmentosum Complementation Group D XP-D Xp-D/Cs
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03631	DDX11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21547	Ddx11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28065	Ddx11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DDX11	MGD	MGI:2443590
Rattus norvegicus	DDX11	RGD	RGD:1306675
Others	DDX11	NCBI