Aliases for DTHD1 Gene
External Ids for DTHD1 Gene
- HGNC: 37261
- Entrez Gene: 401124
- Ensembl: ENSG00000197057
- OMIM: 616979
- UniProtKB: Q6ZMT9
Previous GeneCards Identifiers for DTHD1 Gene
- GC04P035961
- GC04P035609
Summaries 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.
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 Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I036280 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 585.7 | +2.4 | 2377 | 6.8 | PKNOX1 SMAD1 BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 | DTHD1 LOC439933 ARAP2 LOC105374399 | |
| GH04I036267 | Enhancer | 1.1 | FANTOM5 ENCODE dbSUPER | 42 | -12.8 | -12759 | 2.6 | ZNF449 CEBPB ATF2 GATA3 SCRT2 CREB1 ATF7 PRDM10 | DTHD1 LOC439933 ARAP2 | |
| GH04I036325 | 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 | |
| GH04I036254 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 12 | -25.8 | -25790 | 2.7 | BMI1 BATF IRF4 YY1 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 SMARCA5 | LOC439933 DTHD1 ARAP2 | |
| GH04I036319 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 7.5 | +38.8 | 38794 | 2.1 | SRF ZBED1 JUNB ELF1 DPF2 BATF ATF2 RELA IKZF1 NFATC1 | DTHD1 ARAP2 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
Regulatory Element Products
Genomic Locations for DTHD1 Gene
Genomic Locations for DTHD1 Gene
- chr4:36,281,611-36,345,756
- (GRCh38/hg38)
- Size:
- 64,146 bases
- Orientation:
- Plus strand
- chr4:36,283,244-36,347,378
- (GRCh37/hg19)
Genomic View for DTHD1 Gene
Genes around DTHD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p14 by Ensembl
- 4p14 by Entrez Gene
- 4p14 by HGNC
DTHD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DTHD1 Gene
Proteins for DTHD1 Gene
-
Protein details for DTHD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZMT9-DTHD1_HUMAN
- Recommended name:
- Death domain-containing protein 1
- Protein Accession:
- Q6ZMT9
- B2RXK4
- B4E2N7
Protein attributes for DTHD1 Gene
- Size:
- 781 amino acids
- Molecular mass:
- 88329 Da
- Quaternary structure:
- No Data Available
Protein Expression for DTHD1 Gene
Post-translational modifications for DTHD1 Gene
No Post-translational modifications
Other Protein References for DTHD1 Gene
Antibody Products
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Protein Products
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Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DTHD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for DTHD1 Gene
Function for DTHD1 Gene
Phenotypes for DTHD1 Gene
Animal Model Products
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CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
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Santa Cruz Biotechnology (SCBT) CRISPR for DTHD1
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miRNA for DTHD1 Gene
- miRTarBase miRNAs that target DTHD1
-
- hsa-mir-7106-5p (MIRT452709)
- hsa-mir-6716-5p (MIRT452710)
- hsa-mir-766-5p (MIRT452711)
- hsa-mir-6124 (MIRT452712)
- hsa-mir-3663-3p (MIRT452713)
- hsa-mir-4790-3p (MIRT452714)
- hsa-mir-6754-5p (MIRT452715)
- hsa-mir-4441 (MIRT452716)
- hsa-mir-4270 (MIRT452717)
- hsa-mir-4756-5p (MIRT452718)
- hsa-mir-6783-5p (MIRT452719)
- hsa-mir-4739 (MIRT452720)
- hsa-mir-1321 (MIRT452721)
- hsa-mir-7850-5p (MIRT661735)
- hsa-mir-6505-5p (MIRT661736)
- hsa-mir-4753-3p (MIRT661737)
- hsa-mir-7111-3p (MIRT661738)
- hsa-mir-7848-3p (MIRT661739)
- hsa-mir-130b-5p (MIRT661740)
- hsa-mir-6769b-3p (MIRT661741)
- hsa-mir-4723-3p (MIRT661742)
- hsa-mir-3183 (MIRT661743)
- hsa-mir-4667-3p (MIRT661744)
- hsa-mir-369-3p (MIRT661745)
miRNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DTHD1
-
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Cell Line Products
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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
| 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
No Data Available
Interacting Proteins for DTHD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for DTHD1 Gene
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:
CRISPR Products
-
OriGene CRISPR knockouts for DTHD1
- genomics-online: gRNA clones - Search results for 27 available DTHD1 gene related products
- Overview of 27 available DTHD1 gene related products
- Applied Biological Materials CRISPR for DTHD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DTHD1
- GenScript: Design CRISPR guide RNA sequences for DTHD1
miRNA Products
- Search ViGene Biosciences for DTHD1
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for DTHD1
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- genomics-online: shRNA clones - Search results for 27 available DTHD1 gene related products
- Overview of 27 available DTHD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DTHD1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DTHD1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DTHD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: |
Expression 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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DTHD1 Gene:
DTHD1SOURCE GeneReport for Unigene cluster for DTHD1 Gene:
Hs.363407Evidence on tissue expression from TISSUES for DTHD1 Gene
- Nervous system(4.1)
Primer Products
-
OriGene qPCR primer pairs for DTHD1
- genomics-online: primer clones - Search results for 27 available DTHD1 gene related products
- Overview of 27 available DTHD1 gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DTHD1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | DTHD1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | DTHD1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gm17384 33 34 |
|
||
| Dthd1 16 |
|
|
|||
| oppossum (Monodelphis domestica) |
Mammalia | DTHD1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DTHD1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | DTHD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101734689 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100536769 33 |
|
||
| CU672227.1 34 |
|
OneToOne |
- 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)
Paralogs for DTHD1 Gene
No data available for Paralogs for DTHD1 Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1393189 | CNV | insertion | 17803354 |
| esv3304087 | CNV | mobile element insertion | 20981092 |
| esv3407491 | CNV | insertion | 20981092 |
| esv3569373 | CNV | loss | 25503493 |
| esv3600217 | CNV | loss | 21293372 |
| esv3600223 | CNV | loss | 21293372 |
| nsv4301 | CNV | insertion | 18451855 |
| nsv829907 | CNV | gain | 17160897 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTHD1 Gene
Disorders for DTHD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| primary congenital glaucoma |
|
|
Search DTHD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DTHD1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DTHD1 Gene
Publications for DTHD1 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- An indel polymorphism within pre-miR3131 confers risk for hepatocellular carcinoma. (PMID: 28034876) Wang C … Gao Y (Carcinogenesis 2017) 3 58
- 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
- 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
- The death domain superfamily in intracellular signaling of apoptosis and inflammation. (PMID: 17201679) Park HH … Wu H (Annual review of immunology 2007) 3 58
Products for DTHD1 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available DTHD1 related products ranked by validation data
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- ViGene Biosciences adenoviral particle packaged cDNA for DTHD1 gene
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Sources for DTHD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
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- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
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- (90) BioGPS
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- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
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