2. Gene
  3. DDX11 - DEAD/H-box helicase 11 Gene

DDX11 - DEAD/H-box helicase 11 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：DEAD/H-box 解旋酶 11

种属: Homo sapiens

同用名: CHL1; KRG2; WABS; CHLR1

基因 ID: 1663 | 基因类型: protein coding

关于 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.

功能概要

以保守基序 Asp-Glu-Ala-Asp (DEAD) 为特征的 DEAD 盒蛋白是推定的 RNA 解旋酶。它们涉及许多涉及 RNA 二级结构改变的细胞过程，例如翻译起始、核和线粒体剪接以及核糖体和剪接体组装。根据它们的分布模式，该家族的一些成员被认为参与了胚胎发生、精子发生以及细胞生长和分裂。该基因编码 DEAD box 蛋白，这是一种同时具有 ATP 酶和 DNA 解旋酶活性的酶。该基因是酵母 CHL1 基因的同系物，可能起到维持染色体传递保真度和基因组稳定性的作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5'-3' DNA helicase activity IDA
IDA: 通过直接分析推断
18499658 GOA
enables ATP-dependent activity, acting on DNA IDA
IDA: 通过直接分析推断
10648783 GOA
enables ATP-dependent activity, acting on DNA IMP
IMP: 通过突变表型推断
26089203 GOA
enables ATP-dependent activity, acting on RNA IDA
IDA: 通过直接分析推断
27477908 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
26503245 GOA
enables DNA helicase activity IDA
IDA: 通过直接分析推断
26503245 GOA
enables DNA replication origin binding IMP
IMP: 通过突变表型推断
27477908 GOA
enables G-quadruplex DNA binding IDA
IDA: 通过直接分析推断
26503245 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
26503245 GOA
enables chromatin binding IMP
IMP: 通过突变表型推断
20124417 GOA
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
9013641 GOA
enables helicase activity IDA
IDA: 通过直接分析推断
10648783 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17105772 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
9013641 GOA
enables single-stranded RNA binding IDA
IDA: 通过直接分析推断
27477908 GOA
enables triplex DNA binding IDA
IDA: 通过直接分析推断
26503245 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
23797032 GOA
involved in DNA duplex unwinding IDA
IDA: 通过直接分析推断
10648783 GOA
involved in G-quadruplex DNA unwinding IDA
IDA: 通过直接分析推断
26503245 GOA
involved in cellular response to bleomycin IMP
IMP: 通过突变表型推断
23797032 GOA
involved in cellular response to cisplatin IMP
IMP: 通过突变表型推断
23797032 GOA
involved in cellular response to hydroxyurea IMP
IMP: 通过突变表型推断
23797032 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
26089203 GOA
involved in nucleolar chromatin organization IMP
IMP: 通过突变表型推断
26089203 GOA
involved in positive regulation of chromatin binding IDA
IDA: 通过直接分析推断
26089203 GOA
involved in positive regulation of double-strand break repair IMP
IMP: 通过突变表型推断
23797032 GOA
involved in positive regulation of endodeoxyribonuclease activity IDA
IDA: 通过直接分析推断
18499658 GOA
involved in positive regulation of sister chromatid cohesion IMP
IMP: 通过突变表型推断
18499658 GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
IMP: 通过突变表型推断
26089203 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
26503245 GOA
involved in sister chromatid cohesion IDA
IDA: 通过直接分析推断
17105772 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Ctf18 RFC-like complex IDA
IDA: 通过直接分析推断
18499658 GOA
located in centrosome IDA
IDA: 通过直接分析推断
17105772 GOA
located in chromatin IDA
IDA: 通过直接分析推断
17105772 GOA
located in midbody IDA
IDA: 通过直接分析推断
17105772 GOA
NOT part of mitotic cohesin complex IDA
IDA: 通过直接分析推断
17105772 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
9013641 GOA
colocalizes with nucleus IDA
IDA: 通过直接分析推断
17189189 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
17105772 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DDX11 蛋白结构

DEAD_2

DEAD_2: DEAD_2 (231 - 415)

Helicase_C_2

Helicase_C_2: Helicase C-terminal domain (692 - 818)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 970 a.a.
蛋白主名 其他名称

ATP-dependent DNA helicase DDX11

CHL1-like helicase homolog

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03631 DDX11 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21547 Ddx11 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28065 Ddx11 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DDX11 MGD MGI:2443590
Rattus norvegicus DDX11 RGD RGD:1306675
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