• Gene id: 401124

Gene Summary

• Gene Symbol: DTHD1   Gene   UCSC   Ensembl
• Gene name: death domain containing 1
• Alternate names: death domain-containing protein 1,
• Gene location: 4p14 (225924339: 225919876)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 616979

Protein Summary

• Protein general information: Q6ZMT9  
  • Name: Death domain containing protein 1
  • Length: 781  
  • Mass: 88329
• Sequence:

  MHDECTPQQTMSSIQDTKAADIAARGELNVIETATVSPTNGEESHYTNQVQLEKNKTHMSSALVEKENNTSLNGR
  VLGQEESQNKMFPDNAENEDDKQIEHMTVENINGNREETHGIIQTTETEIQETSESPREEMTTSSIICDISKKYI
  NSTLPNDSENIKHKNNIMEKEYLDVLSDVTGPQVSCYITAPSYVLQQLECRIINHMSSLIVGDNEELVSNVITIE
  CSDKEKRVPFPIGIAIPFTARYRGNYRDIMVKVCDINLQSSYLNPNSLEGMKGGYKGTCASVKVYKLGIFSVVSC
  LKKESFTVTKKGLALKSSMDSRISLNYPPGVFTSPVLVQLKIQPVDPALVAHLKAQQDTFYSVQSTSPLIHIQHP
  STYPFQKPVTLFLPCSPYLDKNNLGSEIDHKRRASATINRITPSYFNRTKIASIRKPRKNASECLKLLGFRSQDS
  GWCGLDDVVKTIQSGLVSVELYEHLERFIVLHLSSTMDNSHLVTFVKSLEEAMLSTTACIVLSHQKDNPHRIAVL
  VVPSKDLSQVLKDLHLEGFGGPPEPSRHFQVREGEQLLLRFTGNIFASSNGKDYGKDYTLIFHLQRKPRLELQIK
  EVDEFGNYSCPHYKGTIVVYKVPKGKIVPNLNQSLVINENHSQLPICKLPLKLPKHKKLINRPQSTKRVSKDPVE
  ALWDNLLHWLAEELSEENAESLSSTLPLRRSTIQLIKLKNPDDLTEQIHEFLCFWKKSLPTFTDKLRLLARHLRK
  IGRSDLAEELKFKWENKVFTEPQQCFDVAPE

• Structural information:
  • Protein Domains: (167..30-)
    (/note="ZU5-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (302..48-)
    (/note="ZU5-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (679..76-)
    (/note="Death-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00064"-)
  • Interpro: IPR011029  IPR000488  IPR000906  
  • Prosite: PS50017 PS51145
  • STRING: ENSP00000401597
• Other Databases: GeneCards:  DTHD1  Malacards:  DTHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)