• Gene id: 79258

Gene Summary

• Gene Symbol: MMEL1   Gene   UCSC   Ensembl
• Aliases: MMEL2, NEP2, NEPII, NL1, NL2, SEP
• Gene name: membrane metalloendopeptidase like 1
• Alternate names: membrane metallo-endopeptidase-like 1, NEP2(m), membrane metallo-endopeptidase-like 2, neprilysin II, neprilysin-2, soluble secreted endopeptidase, zinc metallopeptidase,
• Gene location: 1p36.32 (2633041: 2590638)     Exons: 26     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. Thi
• OMIM: 618104

Protein Summary

• Protein general information: Q495T6  
  • Name: Membrane metallo endopeptidase like 1 (EC 3.4.24.11) (Membrane metallo endopeptidase like 2) (NEP2(m)) (Neprilysin II) (NEPII) (Neprilysin 2) (NEP2) (NL2) [Cleaved into: Membrane metallo endopeptidase like 1, soluble form (Neprilysin 2 secreted) (NEP2(s))
  • Length: 779  
  • Mass: 89367
  • Tissue specificity: Predominantly expressed in testis. Weakly expressed in brain, kidney and heart. {ECO
• Sequence:

  MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRK
  PRGIPEAQEVSEVCTTPGCVIAAARILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVIL
  KAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWPVAMDRWNETVGLEWELERQLALMNS
  QFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
  VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVY
  GIPYLQNLENIIDTYSARTIQNYLVWRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENA
  VGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEKAMSIREQIGHPDYILEEMNRRLDEE
  YSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
  ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLG
  ENIADNGGVRQAYKAYLKWMAEGGKDQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLG
  SLQNLAAFADTFHCARGTPMHPKERCRVW

• Structural information:
  • Protein Domains: (88..77-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR024079  IPR029735  IPR000718  IPR018497  IPR042089   IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • STRING: ENSP00000367668
• Other Databases: GeneCards:  MMEL1  Malacards:  MMEL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	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:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray