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DTHD1 Gene

protein-coding GIFtS: 43
GCID: GC04P036283

Death Domain Containing 1

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Death Domain Containing 1¹ ²
Death Domain-Containing Protein 1²

External Ids:	HGNC: 37261¹	Entrez Gene: 401124²	Ensembl: ENSG00000197057⁷	UniProtKB: Q6ZMT9³

Export aliases for DTHD1 gene to outside databases

Previous GC identifers: GC04P035961 GC04P035609

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fundus dystrophy, and multiple sclerosis.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000004.12 NT_006238.12 NC_018915.2

Regulatory elements:

Search for regulatory transcription factor binding sites for DTHD1
Other transcription factors

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Search Chromatin IP Primers for DTHD1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DTHD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14 Ensembl cytogenetic band: 4p14 HGNC cytogenetic band: 4p14

DTHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTHD1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P036283: view genomic region (about GC identifiers)

Start:	36,283,244 bp from pter	End:	36,347,378 bp from pter
Size:	64,135 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: DTHD1_HUMAN, Q6ZMT9 (See protein sequence)

Recommended Name: Death domain-containing protein 1

Size: 781 amino acids; 88329 Da

Secondary accessions: B2RXK4 B4E2N7

Alternative splicing: 2 isoforms: Q6ZMT9-1 Q6ZMT9-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DTHD1: NX_Q6ZMT9

Explore proteomics data for DTHD1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See DTHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001130008.2 NP_001164171.1

ENSEMBL proteins:

ENSP00000350103 ENSP00000424426 ENSP00000401597

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR011029 DEATH-like_dom

IPR000488 Death_domain

Graphical View of Domain Structure for InterPro Entry Q6ZMT9

ProtoNet protein and cluster: Q6ZMT9

1 Blocks protein domain: IPB000488 Death domain

UniProtKB/Swiss-Prot: DTHD1_HUMAN, Q6ZMT9

Similarity: Contains 1 death domain

DTHD1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

DTHD1 for ontologies About GeneDecksing

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	2
nucleus	2

About this image

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for DTHD1
Interactions:

Search GeneGlobe Interaction Network for DTHD1

Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	IEA	--

DTHD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DTHD1 gene (2 alternative transcripts):

NM_001136536.4 NM_001170700.2

Unigene Cluster for DTHD1:

Death domain containing 1

Hs.363407 [show with all ESTs]

Unigene Representative Sequence: NM_001170700

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000357504 ENST00000507598 ENST00000506008 ENST00000503528(uc003gsv.3)

ENST00000456874(uc011bxy.2 uc021xne.1)

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Additional mRNA sequence:

AK094684.1 AK131492.1 AK304357.1 AK316523.1 BC157885.1 NR_073198.1

2 DOTS entries:

DT.102821129 DT.99933060

8 AceView cDNA sequences:

AK131492 BM978838 AI125835 AA954477 AK094684 BU607760 BX102378 CD694599

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for DTHD1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b
SP1:			-														-		-
SP2:																					-
SP3:

ECgene alternative splicing isoforms for DTHD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DTHD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTCAGCACCA

About this image

DTHD1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DTHD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.363407

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for DTHD1 gene from Selected species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gm17384^{1 , 5}	predicted gene, 17384^{1, 5}	81.12(n)¹ 74.77(a)¹		5 (32.04 cM)⁵ 100322896¹ NM_001170705.1¹ NP_001164176.1¹ 62813823⁵
chicken (Gallus gallus)	Aves	DTHD1¹	death domain containing 1	63.78(n) 53.51(a)		100858463 XM_003641216.2 XP_003641264.1
lizard (Anolis carolinensis)	Reptilia	DTHD1⁶	death domain containing 1	52(a)	1 ↔ 1	GL343598.1(129711-156475)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC101734689¹	death domain-containing protein 1-like	61.11(n) 51.41(a)		101734689 XM_004919452.1 XP_004919509.1
zebrafish (Danio rerio)	Actinopterygii	LOC100536769¹	death domain-containing protein 1-like	49.38(n) 41.65(a)		100536769 XM_003198997.2 XP_003199045.2

ENSEMBL Gene Tree for DTHD1 (if available)
TreeFam Gene Tree for DTHD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10718142^1,2	C	--	35629723(+)	`CTCCCT/-TTTTT`	2	--	int¹ trp³		2		NA CSA	4
rs200351550^1,2	C	--	35629723(+)	`CTCCCC/TTTTTT`	2	--	int¹		0	--	--	--	--
rs72596074^1,2	C	--	35631523(+)	`AGTTC-/ACGTAG`	2	--	int¹		0	--	--	--	--
rs145284723^1,2		--	36172423(+)	`TCTTAC/TATCTC`	1	--	us2k¹		0	--	--	--	--
rs138469561^1,2		--	36172445(+)	`ACATCC/TGCATC`	1	--	us2k¹		0	--	--	--	--
rs189039940^1,2		--	36172456(+)	`TCTACA/GGCACA`	1	--	us2k¹		0	--	--	--	--
rs181432532^1,2		--	36172478(+)	`ATTGCA/CGTCTG`	1	--	us2k¹		0	--	--	--	--
rs16992023^1,2	C,F,H	--	36172583(+)	`TCTGAC/TTCGTT`	1	--	us2k¹		9		NA NS EA CSA WA	682
rs185523682^1,2		--	36172666(+)	`TGATCA/GTATTA`	1	--	us2k¹		0	--	--	--	--
rs142023260^1,2		--	36172680(+)	`CCTATA/GCTGGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DTHD1 (36283244 - 36347378 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for DTHD1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv4301	CNV	Insertion	18451855
esv1393189	CNV	Insertion	17803354
esv268366	CNV	Insertion	20981092
nsv829907	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): DTHD1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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3 diseases for DTHD1:
About MalaCards

fundus dystrophy multiple sclerosis retinitis

1 disease from the University of Copenhagen DISEASES database for DTHD1:

Fundus dystrophy

DTHD1 for disorders About GeneDecksing

Genetic Association Database (GAD): DTHD1

Export disorders for DTHD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DTHD1 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with DTHD1)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. (PubMed id 23105016)¹ Abu-Safieh L....Alkuraya F.S. (Genome Res. 2013)
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. (PubMed id 20802204)⁴ Baranzini S.E....Pelletier D. (Brain 2010)
The death domain superfamily in intracellular signaling of apoptosis and inflammation. (PubMed id 17201679)¹ Park H.H....Wu H. (Annu. Rev. Immunol. 2007)
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)⁴ Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)⁴ Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)⁴ Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)⁴ Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W.... Wilson R.K. (Nature 2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 401124	HGNC: 37261	AceView: FLJ16686	Ensembl:ENSG00000197057	euGenes: HUgn401124
ECgene: DTHD1	H-InvDB: DTHD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DTHD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DTHD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DTHD1 gene:
Search GeneIP for patents involving DTHD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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Hot genes Disease genes DTHD1 gene at Home site.

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DTHD1 Gene

Death Domain Containing 1

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DTHD1 Gene

Death Domain Containing 1

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