• Gene id: 90187

Gene Summary

• Gene Symbol: EMILIN3   Gene   UCSC   Ensembl
• Aliases: C20orf130, EMILIN5, dJ620E11.4
• Gene name: elastin microfibril interfacer 3
• Alternate names: EMILIN-3, EMILIN-5, elastin microfibril interface-located protein 3, elastin microfibril interface-located protein 5, elastin microfibril interfacer 5,
• Gene location: 20q12 (41366817: 41359961)     Exons: 4     NC_000020.11
• OMIM: 608929

Protein Summary

• Protein general information: Q9NT22  
  • Name: EMILIN 3 (EMILIN 5) (Elastin microfibril interface located protein 3) (Elastin microfibril interfacer 3) (Elastin microfibril interface located protein 5) (Elastin microfibril interfacer 5)
  • Length: 766  
  • Mass: 82647
• Sequence:

  MGRRRLLVWLCAVAALLSGAQARGTPLLARPAPPGASRYSLYTTGWRPRLRPGPHKALCAYVVHRNVTCILQEGA
  ESYVKAEYRQCRWGPKCPGTVTYRTVLRPKYKVGYKTVTDLAWRCCPGFTGKRCPEHLTDHGAASPQLEPEPQIP
  SGQLDPGPRPPSYSRAAPSPHGRKGPGLFGERLERLEGDVQRLAQTYGTLSGLVASHEDPNRMTGGPRAPAVPVG
  FGVIPEGLVGPGDRARGPLTPPLDEILSKVTEVSNTLQTKVQLLDKVHGLALGHEAHLQRLREAPPSPLTSLALL
  EEYVDRRLHRLWGSLLDGFEQKLQGVQSECDLRVQEVRRQCEEGQAASRRLHQSLDGRELALRQELSQLGSQLQG
  LSVSGRGSCCGQLALINARMDGLERALQAVTETQRGPGAPAGDELTRLSAAMLEGGVDGLLEGLETLNGTEGGAR
  GCCLRLDMGGWGVGGFGTMLEERVQSLEERLATLAGELSHDSASPGRSARPLVQTELAVLEQRLVSLETSCTPST
  TSAILDSLVAEVKAWQSRSEALLRQVASHAALLQQLNGTVAEVQGQLAEGTGSSLQGEITLLKVNLNSVSKSLTG
  LSDSVSQYSDAFLAANTSLDERERKVEAEVQAIQEQVSSQGSRLQAGHRQVLNLRGELEQLKAGVAKVASGLSRC
  QDTAQKLQHTVGHFDQRVAQVEGACRRLGLLAAGLDSLPTEPLRPREGLWSHVDQLNRTLAQHTQDIARLRDDLL
  DCQAQLAEQVRPGQAN

• Structural information:
  • Protein Domains: (55..13-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384"-)
  • Interpro: IPR011489  
  • Prosite: PS51041
  • STRING: ENSP00000332806
• Other Databases: GeneCards:  EMILIN3  Malacards:  EMILIN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	ISS	molecular function
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq