1. Gene
  2. DDX20 - DEAD-box helicase 20 Gene

DDX20 - DEAD-box helicase 20 Gene

Homo sapiens

Also known as DP103; GEMIN3

Gene ID: 11218 | Gene type: protein coding

About DDX20

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,755,901-111,768,000 (from NCBI)

This gene has 21 transcripts (splice variants), 200 orthologues and 38 paralogues. Broad expression in testis (RPKM 58.2), bone marrow (RPKM 6.4) and 17 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 has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

DDX20 Products(1)

mRNA Protein Name
NM_007204.5 NP_009135.4 probable ATP-dependent RNA helicase DDX20
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
12007404 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11714716 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12007404 GOA
acts upstream of or within positive regulation of apoptotic process IGI
IGI: Inferred from genetic interaction
16153597 GOA
involved in spliceosomal snRNP assembly EXP
EXP: Inferred from Experiment
12067652 GOA
involved in spliceosomal snRNP assembly IDA
IDA: Inferred from direct assay
18984161 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SMN complex IDA
IDA: Inferred from direct assay
17178713 GOA
part of SMN complex IPI
IPI: Inferred from physical interaction
17178713 GOA
part of SMN-Sm protein complex IDA
IDA: Inferred from direct assay
18984161 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18984161 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

DDX20 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (87 - 248)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (329 - 404)

  • 0
  • 200
  • 400
  • 600
  • 824 a.a.
Protein Preferred Names Protein Names

probable ATP-dependent RNA helicase DDX20

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

DDX20 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Validated Y2H
32814053
Intra DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Y2H Array
32814053
Intra DDX20 Q9UHI6 DNM2 Homo sapiens P50570-2
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Validated Y2H
32814053
Intra DDX20 Q9UHI6 GDAP1 Homo sapiens Q8TB36
Y2H Array
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Y2H Array
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 MECP2 Homo sapiens P51608
Validated Y2H
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Validated Y2H
32814053
Intra DDX20 Q9UHI6 TOR1A Homo sapiens O14656-2
Y2H Array
32814053
Intra DDX20 Q9UHI6 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Tag CoIP
28514442
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Bait CoIP
11714716
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Filter Binding
10725331
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Bait CoIP
23752268
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Pull Down
10725331
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
Anti Tag CoIP
33961781
Intra DDX20 Q9UHI6 GEMIN4 Homo sapiens P57678
CoIP
10725331
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Anti Bait CoIP
23752268
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Validated Y2H
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Y2H Array
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Y2H Pooling
32814053
Intra DDX20 Q9UHI6 SMN1 Homo sapiens Q16637
Anti Bait CoIP
11714716
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Validated Y2H
32814053
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Y2H Array
32814053
Intra DDX20 Q9UHI6 A2M Homo sapiens P01023
Y2H Pooling
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DDX20 RGD RGD:621744
Macaca mulatta DDX20 VGNC VGNC:99881
Bos taurus DDX20 VGNC VGNC:27958
Canis familiaris DDX20 VGNC VGNC:39848
Felis catus DDX20 VGNC VGNC:61400
Mus musculus DDX20 MGD MGI:1858415