DEDD - death effector domain containing Gene

Also Known as DEFT; KE05; DEDD1; FLDED1; CASP8IP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9191

About DEDD

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,120,974-161,132,667 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 12.8), placenta (RPKM 9.3) and 25 other tissues.

Summary

This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak Apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

DEDD Products (4)

mRNA Protein Name
NM_001039711.2 NP_001034800.1 death effector domain-containing protein isoform b
NM_001039712.2 NP_001034801.1 death effector domain-containing protein isoform b
NM_001330765.2 NP_001317694.1 death effector domain-containing protein isoform a
NM_032998.3 NP_127491.1 death effector domain-containing protein isoform b
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15688372 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

DEDD Protein Structure

DED

DED: Death effector domain (26 - 109)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
Protein Preferred Names Protein Names

death effector domain-containing protein

  • DEDPro1

DEDD Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DEDD O75618 APLP2 Homo sapiens Q06481 20195357
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Arthrogryposis, Distal, Type 10
  • DA10

  • Distal Arthrogryposis Type 10

  • Short Achilles Tendon

  • Plantar Flexion Contracture

  • Short Tendo Calcaneus

  • Congenital Plantar Contractures

  • Tendo Calcaneus, Short

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

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
Macaca mulatta DEDD VGNC VGNC:71768
Mus musculus DEDD MGD MGI:1333874
Rattus norvegicus DEDD RGD RGD:620050
Bos taurus DEDD VGNC VGNC:27984
Canis familiaris DEDD VGNC VGNC:39872
Others DEDD NCBI