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    MME membrane metalloendopeptidase [ Homo sapiens (human) ]

    Gene ID: 4311, updated on 17-Aug-2017
    Official Symbol
    MMEprovided by HGNC
    Official Full Name
    membrane metalloendopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:7154
    See related
    Ensembl:ENSG00000196549 MIM:120520; Vega:OTTHUMG00000158455
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEP; SFE; CD10; CALLA; CMT2T; SCA43
    Summary
    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 leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
    Orthologs
    Location:
    3q25.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (155024124..155183729)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (154797436..154901518)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374170 Neighboring gene uncharacterized LOC105374171 Neighboring gene long intergenic non-protein coding RNA 1487 Neighboring gene DWARF open reading frame

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of membrane metallo-endopeptidase (MME, CD10) expression as compared to untreated control PubMed
    Tat tat HIV-1 Tat, which is found in the brains of patients with HIV-1 infection, inhibits the amyloid beta (Abeta)-degrading enzyme, neprilysin (NEP) PubMed
    tat CD10/Nep inhibits HIV-1 Tat dimerization in Jurkat T-cells PubMed
    Vif vif HIV-1 Vif upregulates the expression of membrane metallo-endopeptidase (MME) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystem (from REACTOME)
      Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystemAngiotensinogen, a prohormone, is synthesized and secreted mainly by the liver but also from other tissues (reviewed in Fyhrquist and Saijonmaa 2008, Cat and Touyz 2011). Renin, an aspartyl protease ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
      Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Renin-angiotensin system, organism-specific biosystem (from KEGG)
      Renin-angiotensin system, organism-specific biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
    • Renin-angiotensin system, conserved biosystem (from KEGG)
      Renin-angiotensin system, conserved biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC126681, MGC126707, DKFZp686O16152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metallopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    peptide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    amyloid-beta metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    angiotensin maturation TAS
    Traceable Author Statement
    more info
     
    cellular response to UV-A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to UV-B IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to cytokine stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    creatinine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kidney development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    peptide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replicative senescence IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuron projection terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    neprilysin
    Names
    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
    neprilysin-411
    neutral endopeptidase 24.11
    skin fibroblast elastase
    NP_000893.2
    NP_009218.2
    NP_009219.2
    NP_009220.2
    XP_006713709.1
    XP_006713710.1
    XP_011511157.1
    XP_011511158.1
    XP_011511159.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051105.1 RefSeqGene

      Range
      60524..164606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000902.3NP_000893.2  neprilysin isoform a

      See identical proteins and their annotated locations for NP_000893.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate 5' UTR exon compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, BM151602, X07166
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000418525.1, OTTHUMP00000212961, ENST00000460393.5, OTTHUMT00000351076
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001354642.1NP_001341571.1  neprilysin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, AK291761
    3. NM_001354643.1NP_001341572.1  neprilysin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, AC117384, Y00811
    4. NM_001354644.1NP_001341573.1  neprilysin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2b. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC117384, BC106070
    5. NM_007287.2NP_009218.2  neprilysin isoform a

      See identical proteins and their annotated locations for NP_009218.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1bis) contains an alternate 5' UTR exon compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, DB142029, X07166
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000478173.1, ENST00000615825.1
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    6. NM_007288.3NP_009219.2  neprilysin isoform a

      See identical proteins and their annotated locations for NP_009219.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2a) contains an alternate 5' UTR exon, compared to variant 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, AC117384
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000419653.1, OTTHUMP00000212963, ENST00000462745.5
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    7. NM_007289.3NP_009220.2  neprilysin isoform a

      See identical proteins and their annotated locations for NP_009220.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2b) is the longest transcript and includes alternate exon 2b. Variants 1, 1bis, 2a, 2b, 3, and 4 all encode the same isoform (a).
      Source sequence(s)
      AC106724, AC117384
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000353679.2, OTTHUMP00000212965, ENST00000360490.6
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      155024124..155183729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512855.2XP_011511157.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_011511157.1

      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000420389.1, OTTHUMP00000212966, ENST00000492661.5, OTTHUMT00000351082
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    2. XM_006713646.3XP_006713709.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_006713709.1

      UniProtKB/Swiss-Prot
      P08473
      Related
      ENSP00000417079.1, OTTHUMP00000212964, ENST00000493237.5, OTTHUMT00000351080
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    3. XM_006713647.3XP_006713710.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_006713710.1

      UniProtKB/Swiss-Prot
      P08473
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    4. XM_011512856.2XP_011511158.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_011511158.1

      UniProtKB/Swiss-Prot
      P08473
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    5. XM_011512857.2XP_011511159.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_011511159.1

      UniProtKB/Swiss-Prot
      P08473
      Conserved Domains (2) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:72750
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      154760481..154864540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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