Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DTHD1 Gene

Aliases for DTHD1 Gene

  • Death Domain Containing 1 2 3 5
  • Death Domain-Containing Protein 1 3

External Ids for DTHD1 Gene

Previous GeneCards Identifiers for DTHD1 Gene

  • GC04P035961
  • GC04P035609

Summaries for DTHD1 Gene

Entrez Gene Summary for DTHD1 Gene

  • 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]

GeneCards Summary for DTHD1 Gene

DTHD1 (Death Domain Containing 1) is a Protein Coding gene. Diseases associated with DTHD1 include Primary Congenital Glaucoma and Leber Congenital Amaurosis.

Additional gene information for DTHD1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DTHD1 Gene

Genomics for DTHD1 Gene

GeneHancer (GH) Regulatory Elements for DTHD1 Gene

Promoters and enhancers for DTHD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J036280 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 685.7 +2.4 2377 6.8 PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 ATF7 FOS ETV6 BCLAF1 DTHD1 LOC439933 ARAP2 LOC105374399
GH04J036267 Enhancer 1 FANTOM5 ENCODE dbSUPER 42 -12.8 -12759 2.6 GATA3 SCRT2 CREB1 CEBPB PRDM10 ATF7 ATF2 DTHD1 LOC439933 ARAP2
GH04J036254 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12 -25.8 -25790 2.7 BMI1 BATF IRF4 YY1 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CREM ARAP2 LOC439933 DTHD1
GH04J036325 Enhancer 1.2 FANTOM5 Ensembl ENCODE 15.9 +44.4 44426 1.8 PKNOX1 CBFB EBF1 DPF2 ATF2 RELA TARDBP SCRT2 IKZF1 NBN ARAP2 DTHD1 LOC439933 LOC105374399 ENSG00000251438
GH04J036310 Enhancer 0.8 Ensembl ENCODE 11.5 +29.4 29355 1.3 MAX REST GABPA POLR2A EED ETV6 RUNX3 MYC ARAP2 LOC439933 DTHD1 LOC105374399 ENSG00000251438
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DTHD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DTHD1 Gene

Genomic Locations for DTHD1 Gene
64,146 bases
Plus strand
64,135 bases
Plus strand

Genomic View for DTHD1 Gene

Genes around DTHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTHD1 Gene

Proteins for DTHD1 Gene

  • Protein details for DTHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Death domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RXK4
    • B4E2N7

    Protein attributes for DTHD1 Gene

    781 amino acids
    Molecular mass:
    88329 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DTHD1 Gene


neXtProt entry for DTHD1 Gene

Post-translational modifications for DTHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DTHD1 Gene

Domains & Families for DTHD1 Gene

Gene Families for DTHD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DTHD1 Gene

Suggested Antigen Peptide Sequences for DTHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DTHD1: view

No data available for UniProtKB/Swiss-Prot for DTHD1 Gene

Function for DTHD1 Gene

genes like me logo Genes that share phenotypes with DTHD1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DTHD1 Gene

Localization for DTHD1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DTHD1 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for DTHD1 Gene

Pathways & Interactions for DTHD1 Gene

SuperPathways for DTHD1 Gene

No Data Available

Interacting Proteins for DTHD1 Gene

Gene Ontology (GO) - Biological Process for DTHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with DTHD1: view

No data available for Pathways by source and SIGNOR curated interactions for DTHD1 Gene

Drugs & Compounds for DTHD1 Gene

No Compound Related Data Available

Transcripts for DTHD1 Gene

mRNA/cDNA for DTHD1 Gene

(10) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DTHD1 Gene

Death domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DTHD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: -

Relevant External Links for DTHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DTHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DTHD1 Gene

mRNA differential expression in normal tissues according to GTEx for DTHD1 Gene

This gene is overexpressed in Fallopian Tube (x5.4), Whole Blood (x4.8), Brain - Caudate (basal ganglia) (x4.8), Brain - Hypothalamus (x4.5), Cervix - Endocervix (x4.4), and Lung (x4.3).

Protein differential expression in normal tissues from HIPED for DTHD1 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DTHD1 Gene

Protein tissue co-expression partners for DTHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DTHD1 Gene:


SOURCE GeneReport for Unigene cluster for DTHD1 Gene:


Evidence on tissue expression from TISSUES for DTHD1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with DTHD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DTHD1 Gene

Orthologs for DTHD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DTHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DTHD1 34 33
  • 99.06 (n)
(Bos Taurus)
Mammalia DTHD1 34 33
  • 87.02 (n)
(Canis familiaris)
Mammalia DTHD1 34 33
  • 85.65 (n)
(Mus musculus)
Mammalia Gm17384 34 33
  • 81.12 (n)
Dthd1 16
(Monodelphis domestica)
Mammalia DTHD1 34
  • 52 (a)
(Gallus gallus)
Aves DTHD1 34 33
  • 63.78 (n)
(Anolis carolinensis)
Reptilia DTHD1 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734689 33
  • 61.11 (n)
(Danio rerio)
Actinopterygii LOC100536769 33
  • 49.38 (n)
CU672227.1 34
  • 39 (a)
Species where no ortholog for DTHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DTHD1 Gene

Gene Tree for DTHD1 (if available)
Gene Tree for DTHD1 (if available)
Evolutionary constrained regions (ECRs) for DTHD1: view image

Paralogs for DTHD1 Gene

No data available for Paralogs for DTHD1 Gene

Variants for DTHD1 Gene

Sequence variations from dbSNP and Humsavar for DTHD1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs886037840 uncertain-significance, Leber congenital amaurosis, Muscular dystrophy 36,282,014(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs1000013407 -- 36,308,029(+) T/C intron_variant
rs1000026541 -- 36,306,692(+) G/A intron_variant
rs10000657 -- 36,345,569(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000071937 -- 36,347,711(+) C/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DTHD1 Gene

Variant ID Type Subtype PubMed ID
nsv829907 CNV gain 17160897
nsv4301 CNV insertion 18451855
esv3600223 CNV loss 21293372
esv3600217 CNV loss 21293372
esv3569373 CNV loss 25503493
esv3407491 CNV insertion 20981092
esv3304087 CNV mobile element insertion 20981092
esv1393189 CNV insertion 17803354

Variation tolerance for DTHD1 Gene

Gene Damage Index Score: 10.73; 91.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DTHD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTHD1 Gene

Disorders for DTHD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DTHD1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary congenital glaucoma
leber congenital amaurosis
  • lca
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search DTHD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DTHD1

genes like me logo Genes that share disorders with DTHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DTHD1 Gene

Publications for DTHD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. An indel polymorphism within pre-miR3131 confers risk for hepatocellular carcinoma. (PMID: 28034876) Wang C … Gao Y (Carcinogenesis 2017) 3 58
  3. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. (PMID: 23105016) Abu-Safieh L … Alkuraya FS (Genome research 2013) 3 58
  4. Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. (PMID: 20802204) Baranzini SE … Pelletier D (Brain : a journal of neurology 2010) 44 58
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q … O'Donnell CJ (BMC medical genetics 2007) 44 58

Products for DTHD1 Gene

Sources for DTHD1 Gene

Loading form....