DDX3X - DEAD-box helicase 3 X-linked Gene
Also Known as DBX; DDX3; HLP2; DDX14; CAP-Rf; MRX102; MRXSSB
Species: Homo sapiens
About DDX3X
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.
Summary
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 Products (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 |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cell leading edge |
IDA
IDA: Inferred from direct assay
|
28733330 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
28842590 | GOA |
| is active in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18636090 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10329544 | GOA |
| located in cytoplasm |
IMP
IMP: Inferred from mutant phenotype
|
10074132 | GOA |
| located in cytoplasmic stress granule |
IDA
IDA: Inferred from direct assay
|
18596238 | GOA |
| part of cytosolic small ribosomal subunit |
IDA
IDA: Inferred from direct assay
|
18596238 | GOA |
| part of eukaryotic translation initiation factor 3 complex |
IDA
IDA: Inferred from direct assay
|
18628297 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10074132 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
29899501 | GOA |
DDX3X Protein Structure
DEAD: DEAD/DEAH box helicase (204 - 391)
Helicase_C: Helicase conserved C-terminal domain (460 - 536)
- 0
- 200
- 400
- 600
- 662 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ATP-dependent RNA helicase DDX3X |
|
DDX3X Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
DDX3X | O00571 | NCAPH | Homo sapiens | Q15003 | 21730191 | |
|
Intra
|
DDX3X | O00571 | EIF2S1 | Homo sapiens | P05198 | 18596238 | |
|
Intra
|
DDX3X | O00571 | EIF2S1 | Homo sapiens | P05198 | 22323517 | |
|
Intra
|
DDX3X | O00571 | EIF2S1 | Homo sapiens | P05198 | 18596238 | |
|
Intra
|
DDX3X | O00571 | IKBKE | Homo sapiens | Q14164 | 18636090 | |
|
Intra
|
DDX3X | O00571 | IKBKE | Homo sapiens | Q14164 | 18636090 | |
|
Intra
|
DDX3X | O00571 | EIF3C | Homo sapiens | Q99613 | 22323517 | |
|
Intra
|
DDX3X | O00571 | EIF3C | Homo sapiens | Q99613 | 22323517 | |
|
Intra
|
DDX3X | O00571 | EIF3C | Homo sapiens | Q99613 | 18628297 | |
|
Intra
|
DDX3X | O00571 | EIF3B | Homo sapiens | P55884 | 18628297 | |
|
Intra
|
DDX3X | O00571 | EIF3B | Homo sapiens | P55884 | 18628297 | |
|
Intra
|
DDX3X | O00571 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DDX3X | O00571 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DDX3X | O00571 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
DDX3X | O00571 | NXF1 | Homo sapiens | Q9UBU9 | 18596238 | |
|
Intra
|
DDX3X | O00571 | TFF2 | Homo sapiens | Q03403 | 32814053 | |
|
Intra
|
DDX3X | O00571 | TFF2 | Homo sapiens | Q03403 | 32814053 | |
|
Intra
|
DDX3X | O00571 | TFF2 | Homo sapiens | Q03403 | 32814053 | |
|
Intra
|
DDX3X | O00571 | EIF4G1 | Homo sapiens | Q04637 | 22872150 | |
|
Intra
|
DDX3X | O00571 | EIF4G1 | Homo sapiens | Q04637 | 22872150 | |
|
Intra
|
DDX3X | O00571 | EIF4G1 | Homo sapiens | Q04637 | 22872150 | |
|
Cross
|
DDX3X | O00571 | Trpm7 | Mus musculus | Q923J1 | 24855944 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 18596238 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 21883093 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 21883093 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 21883093 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 22872150 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 21883093 | |
|
Intra
|
DDX3X | O00571 | PABPC1 | Homo sapiens | P11940 | 18596238 | |
|
Intra
|
DDX3X | O00571 | RIGI | Homo sapiens | O95786 | 20127681 | |
|
Intra
|
DDX3X | O00571 | MAVS | Homo sapiens | Q7Z434 | 20127681 | |
|
Intra
|
DDX3X | O00571 | MAVS | Homo sapiens | Q7Z434 | 20127681 | |
|
Cross
|
DDX3X | O00571 | L | Lymphocytic choriomeningitis virus | P14240 | 29261807 | |
|
Cross
|
DDX3X | O00571 | tat | Human immunodeficiency virus | P04608 | 23840900 | |
|
Cross
|
DDX3X | O00571 | tat | Human immunodeficiency virus | P04608 | 23840900 | |
|
Cross
|
DDX3X | O00571 | P27958-PRO_0000037566 | Hepatitis C virus | P27958-PRO_0000037566 | 10074132 | |
|
Cross
|
DDX3X | O00571 | P27958-PRO_0000037566 | Hepatitis C virus | P27958-PRO_0000037566 | 10074132 | |
|
Cross
|
DDX3X | O00571 | P27958-PRO_0000037566 | Hepatitis C virus | P27958-PRO_0000037566 | 20862261 | |
|
Cross
|
DDX3X | O00571 | P27958-PRO_0000037566 | Hepatitis C virus | P27958-PRO_0000037566 | 10074132 | |
|
Cross
|
DDX3X | O00571 | polg_hcvjf | Hepatitis C virus | Q99IB8 | 22616990 | |
|
Cross
|
DDX3X | O00571 | polg_hcvjf | Hepatitis C virus | Q99IB8 | 22616990 | |
|
Cross
|
DDX3X | O00571 | OPG044 | Vaccinia virus | P68467 | 18636090 | |
|
Cross
|
DDX3X | O00571 | OPG044 | Vaccinia virus | P68467 | 18636090 | |
|
Cross
|
DDX3X | O00571 | PB2 | Influenza A virus | P03427 | 23816991 | |
|
Cross
|
DDX3X | O00571 | P26664-PRO_0000037517 | Hepatitis C virus | P26664-PRO_0000037517 | 10336476 |
DDX3X Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80642 | DDX3 Antibody (YA784) | WB, ICC/IF, IP, ChIP | Human, Rat, Mouse, Monkey |
| HY-P80642A | DDX3 Antibody (YA784)(PBS only) | WB, ICC/IF, IP, ChIP | Human, Rat, Mouse, Monkey |
| HY-P83795 | DDX3 Antibody (YA3492) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Monkey, Rabbit |
| HY-P83795A | DDX3 Antibody (YA3492)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Monkey, Rabbit |
| HY-P85604 | DDX3 Antibody (YA5296) | WB, IP, ICC/IF | Human, Rat, Mouse, Monkey |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
|
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
|
| Rare Genetic Intellectual Disability |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Microcephaly |
|
|
| Venezuelan Equine Encephalitis |
|
|
| Encephalitis |
|
|
| Hepatitis C |
|
|
| Hepatitis |
|
|
| Hepatitis C Virus |
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Hepatitis B |
|
|
| Immunodeficiency 27a |
|
|
| Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood |
|
|
| Endocervical Adenocarcinoma |
|
|
| Lymphocytic Choriomeningitis |
|
|
| Cervical Squamous Cell Carcinoma |
|
|
| Aggressive Nk-Cell Leukemia |
|
|
| Adult Medulloblastoma |
|
|
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
|
| Medulloblastoma |
|
|
| Childhood Medulloblastoma |
|
|
| High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Infratentorial Cancer |
|
|
Orthologs Information
| Species | Symbol | Source | 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 |
| Others | DDX3X | NCBI |