1. Gene
  2. DDX3X - DEAD-box helicase 3 X-linked Gene

DDX3X - DEAD-box helicase 3 X-linked Gene

中文名称:死盒解旋酶 3 X 连锁

种属: Homo sapiens

同用名: DBX; DDX3; HLP2; DDX14; CAP-Rf; MRX102; MRXSSB

基因 ID: 1654 | 基因类型: protein coding

关于 DDX3X

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,333,308-41,364,472 (from NCBI)

This gene has 69 transcripts (splice variants), 283 orthologues, 38 paralogues and is associated with 84 phenotypes. Ubiquitous expression in bone marrow (RPKM 90.6), gall bladder (RPKM 60.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是大型 DEAD-box 蛋白质家族的成员,该家族由保守的 Asp-Glu-Ala-Asp (DEAD) 基序的存在定义,并具有 ATP 依赖性 RNA 解旋酶活性。据报道,这种蛋白质显示出高水平的不依赖于 RNA 的 ATPase 活性,并且与大多数 DEAD-box 解旋酶不同,ATPase 活性被认为受到 RNA 和 DNA 的刺激。该蛋白质具有多个保守结构域,被认为在细胞核和细胞质中均发挥作用。核作用包括转录调控、mRNP 组装、pre-mRNA 剪接和 mRNA 输出。在细胞质中,这种蛋白质被认为参与翻译、细胞信号传导和病毒复制。该基因的失调与肿瘤发生有关。该基因在 Y 染色体的非重组区有一个旁系同源物。在 4 号染色体和 X 染色体上发现了与该基因和 DDX3Y 旁系同源物具有相似性的假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 10 月]

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DDX3X 基因产物(4)

mRNA Protein Name
NM_001193416.3 NP_001180345.1 ATP-dependent RNA helicase DDX3X isoform 2
NM_001193417.3 NP_001180346.1 ATP-dependent RNA helicase DDX3X isoform 3
NM_001356.5 NP_001347.3 ATP-dependent RNA helicase DDX3X isoform 1
NM_001363819.1 NP_001350748.1 ATP-dependent RNA helicase DDX3X isoform 4
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 ATP hydrolysis activity IDA
IDA: 通过直接分析推断
10074132 GOA
enables CTPase activity IDA
IDA: 通过直接分析推断
10074132 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
21589879 GOA
enables DNA helicase activity IDA
IDA: 通过直接分析推断
21589879 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
10074132 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
21589879 GOA
enables RNA helicase activity IDA
IDA: 通过直接分析推断
21589879 GOA
enables RNA stem-loop binding IDA
IDA: 通过直接分析推断
22872150 GOA
enables RNA strand annealing activity IDA
IDA: 通过直接分析推断
27546789 GOA
enables eukaryotic initiation factor 4E binding IDA
IDA: 通过直接分析推断
17667941 GOA
enables gamma-tubulin binding IDA
IDA: 通过直接分析推断
28842590 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
22872150 GOA
enables mRNA binding IDA
IDA: 通过直接分析推断
29062139 GOA
enables poly(A) binding IDA
IDA: 通过直接分析推断
18596238 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10074132 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: 通过直接分析推断
23413191 GOA
enables ribonucleoside triphosphate phosphatase activity IDA
IDA: 通过直接分析推断
10074132 GOA
enables ribosomal small subunit binding IDA
IDA: 通过直接分析推断
22323517 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
23478265 GOA
enables transcription factor binding IDA
IDA: 通过直接分析推断
16818630 GOA
enables translation initiation factor binding IDA
IDA: 通过直接分析推断
22323517 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA secondary structure unwinding IDA
IDA: 通过直接分析推断
22872150 GOA
involved in Wnt signaling pathway IMP
IMP: 通过突变表型推断
26235985 GOA
involved in cellular response to arsenic-containing substance IDA
IDA: 通过直接分析推断
21883093 GOA
involved in cellular response to osmotic stress IDA
IDA: 通过直接分析推断
21883093 GOA
involved in cellular response to virus IDA
IDA: 通过直接分析推断
31575075 GOA
involved in chromosome segregation IMP
IMP: 通过突变表型推断
21730191 GOA
involved in cytosolic ribosome assembly IMP
IMP: 通过突变表型推断
22323517 GOA
involved in extrinsic apoptotic signaling pathway via death domain receptors IMP
IMP: 通过突变表型推断
18846110 GOA
involved in innate immune response IMP
IMP: 通过突变表型推断
18583960 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
18636090 GOA
involved in intrinsic apoptotic signaling pathway IMP
IMP: 通过突变表型推断
16301996 GOA
involved in lipid homeostasis IMP
IMP: 通过突变表型推断
28128295 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
18846110 GOA
involved in negative regulation of cell growth IDA
IDA: 通过直接分析推断
16818630 GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
18846110 GOA
involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
IMP: 通过突变表型推断
18846110 GOA
involved in negative regulation of intrinsic apoptotic signaling pathway IMP
IMP: 通过突变表型推断
21883093 GOA
involved in negative regulation of non-canonical NF-kappaB signal transduction IMP
IMP: 通过突变表型推断
27736973 GOA
involved in negative regulation of protein-containing complex assembly IDA
IDA: 通过直接分析推断
17667941 GOA
involved in negative regulation of translation IMP
IMP: 通过突变表型推断
17667941 GOA
involved in positive regulation of G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
20837705 GOA
involved in positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
16301996 GOA
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
23413191 GOA
involved in positive regulation of cell growth IMP
IMP: 通过突变表型推断
18628297 GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
16301996 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
10074132 GOA
involved in positive regulation of interferon-alpha production IDA
IDA: 通过直接分析推断
30341167 GOA
involved in positive regulation of interferon-beta production IDA
IDA: 通过直接分析推断
27980081 GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction IMP
IMP: 通过突变表型推断
30341167 GOA
involved in positive regulation of protein K63-linked ubiquitination IDA
IDA: 通过直接分析推断
27980081 GOA
involved in positive regulation of protein acetylation IMP
IMP: 通过突变表型推断
28128295 GOA
involved in positive regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
30341167 GOA
involved in positive regulation of protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
23413191 GOA
involved in positive regulation of toll-like receptor 7 signaling pathway IDA
IDA: 通过直接分析推断
30341167 GOA
involved in positive regulation of toll-like receptor 8 signaling pathway IDA
IDA: 通过直接分析推断
30341167 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16818630 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
18583960 GOA
involved in positive regulation of translation IDA
IDA: 通过直接分析推断
18596238 GOA
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
28842590 GOA
involved in positive regulation of translation in response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
29062139 GOA
involved in positive regulation of translational initiation IMP
IMP: 通过突变表型推断
20837705 GOA
involved in positive regulation of type I interferon production IDA
IDA: 通过直接分析推断
23478265 GOA
involved in positive regulation of viral genome replication IMP
IMP: 通过突变表型推断
20862261 GOA
involved in protein localization to cytoplasmic stress granule IMP
IMP: 通过突变表型推断
24965446 GOA
involved in response to virus IDA
IDA: 通过直接分析推断
18636090 GOA
involved in stress granule assembly IDA
IDA: 通过直接分析推断
21883093 GOA
involved in translational initiation IMP
IMP: 通过突变表型推断
26100019 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell leading edge IDA
IDA: 通过直接分析推断
28733330 GOA
located in centrosome IDA
IDA: 通过直接分析推断
28842590 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
18636090 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10329544 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
10074132 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
18596238 GOA
part of cytosolic small ribosomal subunit IDA
IDA: 通过直接分析推断
18596238 GOA
part of eukaryotic translation initiation factor 3 complex IDA
IDA: 通过直接分析推断
18628297 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10074132 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
29899501 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

DDX3X 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (204 - 391)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (460 - 536)

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

ATP-dependent RNA helicase DDX3X

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type

MRXSSB

Mental Retardation, X-Linked 102, Formerly

Mrx102, Formerly

Intellectual Developmental Disorder, X-Linked Syndromic, Snijders Blok Type

X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome

Mrx102

Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence

Toriello-Carey Syndrome

Corpus Callosum Agenesis-Blepharophimosis-Robin Sequence Syndrome

Agenesis Of Corpus Callosum With Facial Anomalies And Robin Sequence

Corpus Callosum Agenesis Facial Anomalies Robin Sequence

Rare Genetic Intellectual Disability
Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Venezuelan Equine Encephalitis

Venezuelan Equine Fever

Venezuelan Equine Encephalomyelitis

Encephalitis Venezuelan Equine

Encephalomyelitis, Venezuelan Equine

Venezuelan Encephalitis

Disorder Due To Venezuelan Equine Encephalitis Virus

Venezuelan Equine Encephalitis Virus Infection

Venezuelan Equine Encephalomyelitis Virus Disease

Encephalitis

Mumps Encephalitis

Mumps Meningoencephalitis

Herpes Simplex Neuroinvasion

Herpetic Encephalitis

Herpetic Encephalopathy

Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis

Encephalitis Due To Herpesviridae

Encephalitis Due To Herpesvirus

Herpes Encephalitis

Herpesviral Encephalitis

Herpes Simplex Encephalitis

Hsv - [Herpes Simplex Virus] Encephalitis

Herpes Virus Encephalitis

Simian B Disease

Simian B Disorder

Encephalitis Nec

Idiopathic Encephalitis

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Hepatitis B

Chronic Hepatitis B

Hepatitis B Infection

Serum Hepatitis

HBV

Hepatitis B Chronic

Hbv, Susceptibility To

Hepatitis B, Chronic

Chronic Hepatitis B Without Delta Agent

Chronic Hbv - [Hepatitis B Virus] Infection

Hepatitis B Nos

Chronic Type B Viral Hepatitis

Hep B Nos

Immunodeficiency 27a

IMD27A

Autosomal Recessive Ifngr1 Deficiency

Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive

Ifngr1 Deficiency, Autosomal Recessive

Immunodeficiency 27a, Mycobacteriosis, Ar

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency

Familial Disseminated Atypical Mycobacterial Infection

Interferon Gamma, Receptor 1, Deficiency

Immunodeficiency, Type 27a, Mycobacteriosis, Ar

Mycobacterial Disease, Mendelian Susceptibility To

Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood

Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood

Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood

Systemic Ebv-Positive T-Cell Lymphoma Of Childhood

Systemic Ebv+ T-Cell Lymphoma Of Childhood

Endocervical Adenocarcinoma

Endocervical Carcinoma

Lymphocytic Choriomeningitis

Lcm

Lymphocytic Meningitis

Lymphocytic Choriomeningitis Virus Encephalomyelitis

Lymphocytic Meningoencephalitis

Non-Arthropod Borne Lymphocytic Choriomeningitis

Lcm - [Lymphocytic Choriomeningitis]

Benign Lymphocytic Meningitis

Meningitis Due To Lymphocytic Choriomeningitis Virus

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Aggressive Nk-Cell Leukemia

Aggressive Nk-Cell Leukaemia

Large Granular Lymphocyte Leukemia, Nk-Cell Type

Natural Killer Cell Leukaemia

Natural Killer Cell Leukemia

Aggressive Nk Cell Leukemia

Ankl

Aggressive Natural Killer Cell Leukemia

Ankcl

Aggressive Nk-Cell Lymphoma

Nk-Cell Lgl Leukemia

Nk-Cell Large Granular Lymphocyte Leukemia

Abnormality Of The Ankles

Aggressive Natural Killer-Cell Leukemia

Leukemia, Large Granular Lymphocytic

Leukemia, Natural Killer Cell Large Granular Lymphocytic

Adult Medulloblastoma

Adult Brain Medulloblastoma

Medulloblastoma, Adult

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation

Severe Neonatal-Onset Encephalopathy With Microcephaly

Encephalopathy, Neonatal Severe

Neonatal Severe Encephalopathy Due To Mecp2 Mutations

Mecp2-Related Severe Neonatal Encephalopathy

Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy

Severe Neonatal Encephalopathy Due To Mecp2 Mutations

ENS-MECP2

Encephalopathy, Neonatal, Severe

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Childhood Medulloblastoma

Medulloblastoma, Childhood

Pediatric Medulloblastoma

Medulloblastoma Childhood

High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit

Hgbl-Dh/Th

High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements

High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Infratentorial Cancer

Infratentorial Neoplasms

Brain Neoplasm, Infratentorial

Malignant Infratentorial Tumors

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DDX3X RGD RGD:1564771
Canis familiaris DDX3X VGNC VGNC:54664
Mus musculus DDX3X MGD MGI:103064
Bos taurus DDX3X VGNC VGNC:56526