• Gene id: 10085

Gene Summary

• Gene Symbol: EDIL3   Gene   UCSC   Ensembl
• Aliases: DEL1
• Gene name: EGF like repeats and discoidin domains 3
• Alternate names: EGF-like repeat and discoidin I-like domain-containing protein 3, EGF-like repeats and discoidin I-like domains 3, developmental endothelial locus-1, developmentally-regulated endothelial cell locus 1 protein, integrin-binding protein DEL1,
• Gene location: 5q14.3 (84384879: 83940553)     Exons: 11     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
• OMIM: 606018

Protein Summary

• Protein general information: O43854  
  • Name: EGF like repeat and discoidin I like domain containing protein 3 (Developmentally regulated endothelial cell locus 1 protein) (Integrin binding protein DEL1)
  • Length: 480  
  • Mass: 53765
• Sequence:

  MKRSVAVWLLVGLSLGVPQFGKGDICDPNPCENGGICLPGLADGSFSCECPDGFTDPNCSSVVEVASDEEEPTSA
  GPCTPNPCHNGGTCEISEAYRGDTFIGYVCKCPRGFNGIHCQHNINECEVEPCKNGGICTDLVANYSCECPGEFM
  GRNCQYKCSGPLGIEGGIISNQQITASSTHRALFGLQKWYPYYARLNKKGLINAWTAAENDRWPWIQINLQRKMR
  VTGVITQGAKRIGSPEYIKSYKIAYSNDGKTWAMYKVKGTNEDMVFRGNIDNNTPYANSFTPPIKAQYVRLYPQV
  CRRHCTLRMELLGCELSGCSEPLGMKSGHIQDYQITASSIFRTLNMDMFTWEPRKARLDKQGKVNAWTSGHNDQS
  QWLQVDLLVPTKVTGIITQGAKDFGHVQFVGSYKLAYSNDGEHWTVYQDEKQRKDKVFQGNFDNDTHRKNVIDPP
  IYARHIRILPWSWYGRITLRSELLGCTEEE

• Structural information:
  • Protein Domains: (24..6-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (74..11-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (119..15-)
    (/note="EGF-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR029828  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR000421  IPR008979  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS01285 PS01286 PS50022
  • CDD: cd00057
  • PDB: 4D90
  • PDBsum: 4D90
  • STRING: ENSP00000296591
• Other Databases: GeneCards:  EDIL3  Malacards:  EDIL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005178	integrin binding	TAS	molecular function
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R