• Gene id: 9812

Gene Summary

• Gene Symbol: DELE1   Gene   UCSC   Ensembl
• Aliases: DELE, KIAA0141
• Gene name: DAP3 binding cell death enhancer 1
• Alternate names: death ligand signal enhancer,
• Gene location: 5q31.3 (141923870: 141952030)     Exons: 18     NC_000005.10
• OMIM: 616961

SNPs

rs7969759

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

Protein Summary

• Protein general information: Q14154  
  • Name: DAP3 binding cell death enhancer 1 (Death ligand signal enhancer)
  • Length: 515  
  • Mass: 55920
  • Tissue specificity: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon. {ECO
• Sequence:

  MWRLPGLLGRALPRTLGPSLWRVTPKSTSPDGPQTTSSTLLVPVPNLDRSGPHGPGTSGGPRSHGWKDAFQWMSS
  RVSPNTLWDAISWGTLAVLALQLARQIHFQASLPAGPQRVEHCSWHSPLDRFFSSPLWHPCSSLRQHILPSPDGP
  APRHTGLREPRLGQEEASAQPRNFSHNSLRGARPQDPSEEGPGDFGFLHASSSIESEAKPAQPQPTGEKEQDKSK
  TLSLEEAVTSIQQLFQLSVSIAFNFLGTENMKSGDHTAAFSYFQKAAARGYSKAQYNAGLCHEHGRGTPRDISKA
  VLYYQLAASQGHSLAQYRYARCLLRDPASSWNPERQRAVSLLKQAADSGLREAQAFLGVLFTKEPYLDEQRAVKY
  LWLAANNGDSQSRYHLGICYEKGLGVQRNLGEALRCYQQSAALGNEAAQERLRALFSMGAAAPGPSDLTVTGLKS
  FSSPSLCSLNTLLAGTSRLPHASSTGNLGLLCRSGHLGASLEASSRAIPPHPYPLERSVVRLGFG

• Structural information:
  • Interpro: IPR006597  IPR011990  
  • STRING: ENSP00000396225
• Other Databases: GeneCards:  DELE1  Malacards:  DELE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray