DTHD1 - death domain containing 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 401124

About DTHD1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:36,281,616-36,347,511 (from NCBI)

This gene has 6 transcripts (splice variants), 166 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in lung (RPKM 2.2), lymph node (RPKM 1.8) and 11 other tissues.

Summary

This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the Apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

DTHD1 Products (3)

mRNA Protein Name
NM_001136536.5 NP_001130008.2 death domain-containing protein 1 isoform 2
NM_001170700.3 NP_001164171.2 death domain-containing protein 1 isoform 1
NM_001378435.1 NP_001365364.1 death domain-containing protein 1 isoform 3

DTHD1 Protein Structure

Death

Death: Death domain (680 - 761)

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

death domain-containing protein 1

Related Diseases

Diseases Alias
Occult Macular Dystrophy
  • OCMD

  • Omd

  • Dystrophy, Macular, Occult

Ocular Hyperemia
  • Hyperemia Eye

  • Hyperemia Of Conjunctiva

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

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 DTHD1 RGD RGD:2323176
Canis familiaris DTHD1 VGNC VGNC:40112
Felis catus DTHD1 VGNC VGNC:78483
Bos taurus DTHD1 VGNC VGNC:28229
Macaca mulatta DTHD1 VGNC VGNC:100220
Mus musculus DTHD1 MGD MGI:4937018
Others DTHD1 NCBI