Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	401124
Gene name	Death domain containing 1
Gene symbol	DTHD1
Synonyms (NCBI Gene)	-
Chromosome	4
Chromosome location	4p14
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

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT661745	hsa-miR-369-3p	HITS-CLIP	23824327
MIRT661744	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661743	hsa-miR-3183	HITS-CLIP	23824327
MIRT661742	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT661741	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT661740	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661739	hsa-miR-7848-3p	HITS-CLIP	23824327
MIRT661738	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT661737	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661736	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT661735	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT452721	hsa-miR-1321	PAR-CLIP	23592263
MIRT452720	hsa-miR-4739	PAR-CLIP	23592263
MIRT452718	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT452719	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT452717	hsa-miR-4270	PAR-CLIP	23592263
MIRT452716	hsa-miR-4441	PAR-CLIP	23592263
MIRT452715	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT452714	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT452713	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT452712	hsa-miR-6124	PAR-CLIP	23592263
MIRT452711	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT452710	hsa-miR-6716-5p	PAR-CLIP	23592263
MIRT452709	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT661745	hsa-miR-369-3p	HITS-CLIP	23824327
MIRT661744	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661743	hsa-miR-3183	HITS-CLIP	23824327
MIRT661742	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT661741	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT661740	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661739	hsa-miR-7848-3p	HITS-CLIP	23824327
MIRT661738	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT661737	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661736	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT661735	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT452721	hsa-miR-1321	PAR-CLIP	23592263
MIRT452720	hsa-miR-4739	PAR-CLIP	23592263
MIRT452718	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT452719	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT452717	hsa-miR-4270	PAR-CLIP	23592263
MIRT452716	hsa-miR-4441	PAR-CLIP	23592263
MIRT452715	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT452714	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT452713	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT452712	hsa-miR-6124	PAR-CLIP	23592263
MIRT452711	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT452710	hsa-miR-6716-5p	PAR-CLIP	23592263
MIRT452709	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT946564	hsa-miR-103a	CLIP-seq
MIRT946565	hsa-miR-107	CLIP-seq
MIRT946566	hsa-miR-1271	CLIP-seq
MIRT946567	hsa-miR-146a	CLIP-seq
MIRT946568	hsa-miR-146b-5p	CLIP-seq
MIRT946569	hsa-miR-182	CLIP-seq
MIRT946570	hsa-miR-3130-3p	CLIP-seq
MIRT946571	hsa-miR-3145-3p	CLIP-seq
MIRT946572	hsa-miR-330-3p	CLIP-seq
MIRT946573	hsa-miR-4330	CLIP-seq
MIRT946574	hsa-miR-4495	CLIP-seq
MIRT946575	hsa-miR-4768-5p	CLIP-seq
MIRT946576	hsa-miR-4793-3p	CLIP-seq
MIRT946577	hsa-miR-548ae	CLIP-seq
MIRT946578	hsa-miR-548aj	CLIP-seq
MIRT946579	hsa-miR-548am	CLIP-seq
MIRT946580	hsa-miR-548x	CLIP-seq
MIRT946581	hsa-miR-589	CLIP-seq
MIRT946582	hsa-miR-885-3p	CLIP-seq
MIRT946583	hsa-miR-888	CLIP-seq
MIRT946584	hsa-miR-96	CLIP-seq
MIRT946567	hsa-miR-146a	CLIP-seq
MIRT946568	hsa-miR-146b-5p	CLIP-seq
MIRT946585	hsa-miR-1587	CLIP-seq
MIRT946571	hsa-miR-3145-3p	CLIP-seq
MIRT946573	hsa-miR-4330	CLIP-seq
MIRT946586	hsa-miR-4674	CLIP-seq
MIRT946587	hsa-miR-4705	CLIP-seq
MIRT946581	hsa-miR-589	CLIP-seq
MIRT946564	hsa-miR-103a	CLIP-seq
MIRT946565	hsa-miR-107	CLIP-seq
MIRT1980377	hsa-miR-4307	CLIP-seq
MIRT946574	hsa-miR-4495	CLIP-seq
MIRT1980378	hsa-miR-548c-3p	CLIP-seq
MIRT2215392	hsa-miR-3188	CLIP-seq
MIRT2215393	hsa-miR-3612	CLIP-seq
MIRT2215394	hsa-miR-4254	CLIP-seq
MIRT2215395	hsa-miR-4443	CLIP-seq
MIRT2215396	hsa-miR-4528	CLIP-seq
MIRT2215397	hsa-miR-619	CLIP-seq
MIRT2215398	hsa-miR-650	CLIP-seq
MIRT2448560	hsa-miR-1299	CLIP-seq
MIRT2448561	hsa-miR-4679	CLIP-seq
MIRT2448562	hsa-miR-671-5p	CLIP-seq
MIRT2448563	hsa-miR-875-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0007165	Process	Signal transduction	IEA

MIM	HGNC	e!Ensembl
616979	37261	ENSG00000197057

Q6ZMT9

Protein name

Death domain-containing protein 1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00531	Death	679 → 764	Death domain	Domain

Sequence

MHDECTPQQTMSSIQDTKAADIAARGELNVIETATVSPTNGEESHYTNQVQLEKNKTHMS
SALVEKENNTSLNGRVLGQEESQNKMFPDNAENEDDKQIEHMTVENINGNREETHGIIQT
TETEIQETSESPREEMTTSSIICDISKKYINSTLPNDSENIKHKNNIMEKEYLDVLSDVT
GPQVSCYITAPSYVLQQLECRIINHMSSLIVGDNEELVSNVITIECSDKEKRVPFPIGIA
IPFTARYRGNYRDIMVKVCDINLQSSYLNPNSLEGMKGGYKGTCASVKVYKLGIFSVVSC
LKKESFTVTKKGLALKSSMDSRISLNYPPGVFTSPVLVQLKIQPVDPALVAHLKAQQDTF
YSVQSTSPLIHIQHPSTYPFQKPVTLFLPCSPYLDKNNLGSEIDHKRRASATINRITPSY
FNRTKIASIRKPRKNASECLKLLGFRSQDSGWCGLDDVVKTIQSGLVSVELYEHLERFIV
LHLSSTMDNSHLVTFVKSLEEAMLSTTACIVLSHQKDNPHRIAVLVVPSKDLSQVLKDLH
LEGFGGPPEPSRHFQVREGEQLLLRFTGNIFASSNGKDYGKDYTLIFHLQRKPRLELQIK
EVDEFGNYSCPHYKGTIVVYKVPKGKIVPNLNQSLVINENHSQLPICKLPLKLPKHKKLI
NRPQSTKRVSKDPVEALWDNLLHWLAEELSEENAESLSSTLPLRRSTIQLIKLKNPDDLT
EQIHEFLCFWKKSLPTFTDKLRLLARHLRKIGRSDLAEELKFKWENKVFTEPQQCFDVAP
E

Sequence length

781

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DTHD1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Glioblastoma	Glioblastoma	Pubtator	34180136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28034876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36893588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	23105016		★★★★★ ★☆☆☆☆ Found in Text Mining only

DTHD1 (death domain containing 1)