DTHD1 - death domain containing 1 Gene

Homo sapiens

Gene ID: 401124 | Gene type: protein coding

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04033	DTHD1 Human Pre-designed siRNA Set A		/	Unkown

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

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