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MME membrane metallo-endopeptidase [ Homo sapiens (human) ]

Gene ID: 4311, updated on 12-May-2015
Official Symbol
MMEprovided by HGNC
Official Full Name
membrane metallo-endopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:7154
See related
Ensembl:ENSG00000196549; HPRD:00392; 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
Summary
This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This 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. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. 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. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]
Orthologs
See MME in MapViewer
Location:
3q25.2
Exon count:
30
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC100507537

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Membranous nephropathy, susceptibility to
MedGen: CN128991 OMIM: 614692 GeneReviews: Not available
not available

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...
  • 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.
  • 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...
  • 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 biosystem
    Renin-angiotensin system
  • Renin-angiotensin system, conserved biosystem (from KEGG)
    Renin-angiotensin system, conserved biosystem
    Renin-angiotensin system
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 
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
angiotensin maturation TAS
Traceable Author Statement
more info
 
beta-amyloid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular protein metabolic process 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 
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
 
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
neprilysin
atriopeptidase
common acute lymphocytic leukemia antigen
enkephalinase
membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase)
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

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.

mRNA and Protein(s)

  1. NM_000902.3NP_000893.2  neprilysin

    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 2b, 2a, 1bis and 1 all encode the same protein.
    Source sequence(s)
    AC106724, BM151602, X07166
    Consensus CDS
    CCDS3172.1
    UniProtKB/Swiss-Prot
    P08473
    Related
    ENSP00000418525, OTTHUMP00000212961, ENST00000460393, 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_007287.2NP_009218.2  neprilysin

    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 2b, 2a, 1bis and 1 all encode the same protein.
    Source sequence(s)
    AC106724, DB142029, X07166
    Consensus CDS
    CCDS3172.1
    UniProtKB/Swiss-Prot
    P08473
    Related
    ENSP00000478173, ENST00000615825
    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. NM_007288.2NP_009219.2  neprilysin

    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 2b, 2a, 1bis and 1 all encode the same protein.
    Source sequence(s)
    AC106724, BP418894, X07166
    Consensus CDS
    CCDS3172.1
    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. NM_007289.2NP_009220.2  neprilysin

    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 2b, 2a, 1bis and 1 all encode the same protein.
    Source sequence(s)
    AC106724, DA574242, X07166
    Consensus CDS
    CCDS3172.1
    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]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011512855.1XP_011511157.1  

    See identical proteins and their annotated locations for XP_011511157.1

    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]
  2. XM_006713646.2XP_006713709.1  

    See identical proteins and their annotated locations for XP_006713709.1

    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]
  3. XM_011512858.1XP_011511160.1  

    See identical proteins and their annotated locations for XP_011511160.1

    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]
  4. XM_006713647.2XP_006713710.1  

    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]
  5. XM_011512856.1XP_011511158.1  

    See identical proteins and their annotated locations for XP_011511158.1

    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. XM_011512857.1XP_011511159.1  

    See identical proteins and their annotated locations for XP_011511159.1

    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]

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

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