• Gene id: 9427

Gene Summary

• Gene Symbol: ECEL1   Gene   UCSC   Ensembl
• Aliases: DA5D, DINE, ECEX, XCE
• Gene name: endothelin converting enzyme like 1
• Alternate names: endothelin-converting enzyme-like 1, X converting enzyme, damage induced neuronal endopeptidase,
• Gene location: 2q37.1 (232487833: 232479826)     Exons: 18     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated
• OMIM: 610994

Protein Summary

• Protein general information: O95672  
  • Name: Endothelin converting enzyme like 1 (EC 3.4.24. ) (Xce protein)
  • Length: 775  
  • Mass: 87791
  • Tissue specificity: Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala,
• Sequence:

  MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARSATGARSGLPRWNRREVCLLSGLVFAAGLCAI
  LAAMLALKYLGPVAAGGGACPEGCPERKAFARAARFLAANLDASIDPCQDFYSFACGGWLRRHAIPDDKLTYGTI
  AAIGEQNEERLRRLLARPGGGPGGAAQRKVRAFFRSCLDMREIERLGPRPMLEVIEDCGGWDLGGAEERPGVAAR
  WDLNRLLYKAQGVYSAAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLYLAQDEDSEKILAAYRVFMERVLSL
  LGADAVEQKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQKITPHLRWKWLLDQIFQEDFSEEEEVV
  LLATDYMQQVSQLIRSTPHRVLHNYLVWRVVVVLSEHLSPPFREALHELAQEMEGSDKPQELARVCLGQANRHFG
  MALGALFVHEHFSAASKAKVQQLVEDIKYILGQRLEELDWMDAETRAAARAKLQYMMVMVGYPDFLLKPDAVDKE
  YEFEVHEKTYFKNILNSIRFSIQLSVKKIRQEVDKSTWLLPPQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQS
  LNYGGIGTIIGHELTHGYDDWGGQYDRSGNLLHWWTEASYSRFLRKAECIVRLYDNFTVYNQRVNGKHTLGENIA
  DMGGLKLAYHAYQKWVREHGPEHPLPRLKYTHDQLFFIAFAQNWCIKRRSQSIYLQVLTDKHAPEHYRVLGSVSQ
  FEEFGRAFHCPKDSPMNPAHKCSVW

• Structural information:
  • Protein Domains: (98..77-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR029736  IPR024079  IPR000718  IPR018497  IPR042089   IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • STRING: ENSP00000302051
• Other Databases: GeneCards:  ECEL1  Malacards:  ECEL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003016	respiratory system process	ISS	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007218	neuropeptide signaling pathway	TAS	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0003016	respiratory system process	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Distal arthrogryposis	KEGG:H00811
Distal arthrogryposis	KEGG:H00811
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881