• Gene id: 4311

Gene Summary

• Gene Symbol: MME   Gene   UCSC   Ensembl
• Aliases: CALLA, CD10, CMT2T, NEP, SCA43, SFE
• Gene name: membrane metalloendopeptidase
• Alternate names: neprilysin, atriopeptidase, common acute lymphocytic leukemia antigen, membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10), membrane metallo-endopeptidase variant 1, membrane metallo-endopeptidase variant 2, neprilysin-390, neprily,
• Gene location: 3q25.2 (155024123: 155183728)     Exons: 30     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on
• OMIM: 602682

Protein Summary

• Protein general information: P08473  
  • Name: Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common acute lymphocytic leukemia antigen) (CALLA) (Enkephalinase) (Neutral endopeptidase 24.11) (NEP) (Neutral endopeptidase) (Skin fibroblast elastase) (SFE) (CD antigen CD10)
  • Length: 750  
  • Mass: 85514
• Sequence:

  MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSSDCIKSAARLIQNMDA
  TTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKDVLQEPKTEDIVAVQKAKALYRSCINESAID
  SRGGEPLLKLLPDIYGWPVATENWEQKYGASWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLG
  LPSRDYYECTGIYKEACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLY
  NKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILTKYSARDLQNLMSWRF
  IMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNMENAVGRLYVEAAFAGESKHVVEDLIAQIREV
  FIQTLDDLTWMDAETKKRAEEKALAIKERIGYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKK
  LREKVDKDEWISGAAVVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKD
  GDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYRAYQNYIKKNGEEKLL
  PGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRIIGTLQNSAEFSEAFHCRKNSYMNPEKKCRVW

• Structural information:
  • Protein Domains: (56..75-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR024079  IPR029727  IPR000718  IPR018497  IPR042089   IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • PDB: 1DL9 1DMT 1QVD 1R1H 1R1I 1R1J 1Y8J 2QPJ 2YB9 4CTH 5JMY 6GID 6SH1 6SH2
  • PDBsum: 1DL9 1DMT 1QVD 1R1H 1R1I 1R1J 1Y8J 2QPJ 2YB9 4CTH 5JMY 6GID 6SH1 6SH2
  • STRING: ENSP00000418525
• Other Databases: GeneCards:  MME  Malacards:  MME

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0150094	amyloid-beta clearance by cellular catabolic process	IDA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:1901612	cardiolipin binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0004175	endopeptidase activity	IMP	molecular function
GO:0004175	endopeptidase activity	IMP	molecular function
GO:0004175	endopeptidase activity	IGI	molecular function
GO:0043025	neuronal cell body	IDA	cellular component
GO:0006508	proteolysis	IMP	biological process
GO:0006508	proteolysis	IGI	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0007568	aging	IEP	biological process
GO:0007611	learning or memory	IGI	biological process
GO:0097242	amyloid-beta clearance	IDA	biological process
GO:0097242	amyloid-beta clearance	IDA	biological process
GO:0061837	neuropeptide processing	IGI	biological process
GO:0030424	axon	IGI	cellular component
GO:0150094	amyloid-beta clearance by cellular catabolic process	ISS	biological process
GO:0150094	amyloid-beta clearance by cellular catabolic process	IGI	biological process
GO:0098793	presynapse	IGI	cellular component
GO:0050769	positive regulation of neurogenesis	IGI	biological process
GO:0009986	cell surface	NAS	cellular component
GO:0043025	neuronal cell body	IGI	cellular component
GO:0097242	amyloid-beta clearance	IGI	biological process
GO:0097242	amyloid-beta clearance	ISS	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0004222	metalloendopeptidase 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:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0002003	angiotensin maturation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030324	lung development	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0070012	oligopeptidase activity	IEA	molecular function
GO:0097242	amyloid-beta clearance	IEA	biological process
GO:0150094	amyloid-beta clearance by cellular catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0097242	amyloid-beta clearance	IEA	biological process
GO:1900273	positive regulation of long-term synaptic potentiation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006518	peptide metabolic process	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0050435	amyloid-beta metabolic process	IEA	biological process
GO:0008238	exopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0071493	cellular response to UV-B	IDA	biological process
GO:0071492	cellular response to UV-A	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0071345	cellular response to cytokine stimulus	IDA	biological process
GO:0005903	brush border	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0090399	replicative senescence	IEP	biological process
GO:0050435	amyloid-beta metabolic process	ISS	biological process
GO:0046449	creatinine metabolic process	IMP	biological process
GO:0030424	axon	ISS	cellular component
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0006518	peptide metabolic process	ISS	biological process
GO:0001822	kidney development	IEP	biological process
GO:0045202	synapse	ISS	cellular component
GO:0044306	neuron projection terminus	ISS	cellular component
GO:0019233	sensory perception of pain	ISS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0004222	metalloendopeptidase activity	IMP	molecular function
GO:0004175	endopeptidase activity	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0042277	peptide binding	ISS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04974	Protein digestion and absorption
hsa04640	Hematopoietic cell lineage
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Spinocerebellar ataxia	KEGG:H00063
Charcot-Marie-Tooth disease	KEGG:H00264
Spinocerebellar ataxia	KEGG:H00063
Alzheimer's disease	PMID:19606063
Alzheimer's disease	PMID:25884928
Alzheimer's disease	PMID:15860464
Alzheimer's disease	PMID:22493749
Alzheimer's disease	PMID:17928142
Alzheimer's disease	PMID:28294061
Cerebral amyloid angiopathy	PMID:17021406
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq