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    MME membrane metalloendopeptidase [ Homo sapiens (human) ]

    Gene ID: 4311, updated on 3-Dec-2024

    Summary

    Official Symbol
    MMEprovided by HGNC
    Official Full Name
    membrane metalloendopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:7154
    See related
    Ensembl:ENSG00000196549 MIM:120520; AllianceGenome:HGNC:7154
    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]
    Expression
    Biased expression in duodenum (RPKM 88.5), kidney (RPKM 83.7) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MME in Genome Data Viewer
    Location:
    3q25.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (155024202..155183729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (157798155..157957709)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (154741991..154901518)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374170 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:154605732-154606931 Neighboring gene uncharacterized LOC105374171 Neighboring gene NANOG hESC enhancer GRCh37_chr3:154639118-154639653 Neighboring gene Sharpr-MPRA regulatory region 12262 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:154842003-154842759 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:154842760-154843515 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:154896874-154897105 Neighboring gene Sharpr-MPRA regulatory region 4432 Neighboring gene MPRA-validated peak4871 silencer Neighboring gene long intergenic non-protein coding RNA 1487 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:154999620-155000162 Neighboring gene small transmembrane regulator of ion transport 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126681, MGC126707, DKFZp686O16152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables exopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables oligopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta clearance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in amyloid-beta clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amyloid-beta clearance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid-beta clearance by cellular catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amyloid-beta clearance by cellular catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amyloid-beta clearance by cellular catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid-beta metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bradykinin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to UV-A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to UV-B IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cytokine stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in creatinine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hormone catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in kidney development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in learning or memory IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuropeptide processing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in peptide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neurogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in replicative senescence IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in substance P catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynapse IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neprilysin
    Names
    atriopeptidase
    common acute lymphocytic leukemia antigen
    membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)
    neprilysin-390
    neprilysin-411
    neutral endopeptidase 24.11
    skin fibroblast elastase
    NP_000893.2
    NP_001341571.1
    NP_001341572.1
    NP_001341573.1
    NP_009218.2
    NP_009219.2
    NP_009220.2
    XP_006713710.1
    XP_011511158.1
    XP_011511159.1
    XP_047304113.1
    XP_054202544.1
    XP_054202545.1
    XP_054202546.1
    XP_054202547.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      61196..164581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000902.5NP_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
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000418525.1, ENST00000460393.6
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    2. NM_001354642.2NP_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
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000420389.1, ENST00000492661.5
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    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
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000417079.1, ENST00000493237.5
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    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
      Consensus CDS
      CCDS87157.1
      UniProtKB/TrEMBL
      Q3KQS6
      Related
      ENSP00000372450.3, ENST00000382989.7
    5. NM_007287.4NP_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, AC117384, DB142029, X07166
      Consensus CDS
      CCDS3172.1
      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000502021.2, ENST00000675418.2
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    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
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000419653.1, ENST00000462745.5
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    7. NM_007289.4NP_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
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000353679.2, ENST00000360490.7
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      155024202..155183729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448157.1XP_047304113.1  neprilysin isoform X1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
    2. XM_006713647.5XP_006713710.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_006713710.1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000505211.1, ENST00000680057.1
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    3. XM_011512857.3XP_011511159.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_011511159.1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Related
      ENSP00000505690.1, ENST00000680282.1
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    4. XM_011512856.3XP_011511158.1  neprilysin isoform X1

      See identical proteins and their annotated locations for XP_011511158.1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
      Conserved Domains (1) summary
      cd08662
      Location:79748
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      157798155..157957709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346570.1XP_054202545.1  neprilysin isoform X1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
    2. XM_054346571.1XP_054202546.1  neprilysin isoform X1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
    3. XM_054346569.1XP_054202544.1  neprilysin isoform X1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6
    4. XM_054346572.1XP_054202547.1  neprilysin isoform X1

      UniProtKB/Swiss-Prot
      A8K6U6, D3DNJ9, P08473, Q3MIX4
      UniProtKB/TrEMBL
      B7ZKY6