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MME (membrane metallo-endopeptidase)

Written2007-05Emina E Torlakovic
Department of Pathology, The Norwegian Radium Hospital, University of Oslo Montebello, Oslo 0310 Norway

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)CALLA
CD10
NEP
Other aliascommon acute lymphocytic leukemia antigen (CALLA)
DKFZp686O16152
MGC126681
MGC126707
Kidney-brush-border neutral proteinase
Neprilysin (NEP)
Enkephalinase
Atriopeptidase
Endopeptidase-2
Neutral endopeptidase
HGNC (Hugo) MME
LocusID (NCBI) 4311
Atlas_Id 41386
Location 3q25.2  [Link to chromosome band 3q25]
Location_base_pair Starts at 155079647 and ends at 155183729 bp from pter ( according to hg19-Feb_2009)  [Mapping MME.png]
Fusion genes
(updated 2016)
FAM172A (5q15) / MME (3q25.2)MME (3q25.2) / MME (3q25.2)
Note Membrane metallo-endopeptidase (MME) is a 100-kD type II transmembrane glycoprotein originally described on human acute lymphoblastic leukemia cell lines and therefore it was originally designated as common acute lymphocytic leukemia antigen (CALLA). MME is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including atrial natriuretic factor, glucagon, enkephalin, substance P, neurotensin, oxytocin, and bradykinin. It is also a major enzyme for degradation of beta-amyloid.

DNA/RNA

Note Gene:on chromosome 3 at location: 156284651-156384186 ; length: 99536 ; type: protein coding
Description MME gene spans a region of 99536 bases and has 24 exons. Exons 1 and 2 encode 5' untranslated sequences. Initiation codon and transmembrane and cytoplasmic domain are encoded by exon 3, which has 170 bp. 20 short exons (exons 4-23) range in size from 36 to 162 bp. They encode large part of the extracellular portion of the enzyme. Exon 24 which has about 3400 bp encodes the COOH-terminal 32 amino acids and contains the entire 3' untranslated region (UTR). Exon 19 encodes the pentapeptide sequence associated with metalloproteinase zinc binding and substrate catalysis (His-Glu-Ile-Thr-His).
The sequence is nearly identical to rat and rabbit NEP.
Transcriptional regulation : MME is constitutively expressed in some tissues (kidney, adipose tissue, brain) and at some developmental stages in other (T- and B-lymphocytes, neutrophils). Its gene transcription is regulated by at least two alternative regulation regions including type 1 and type 2 promoter. Both regulatory regions are characterized by the presence of multiple transcription initiation sites and the absence of classic TATA boxes and consensus initiator elements. The purine-rich type 1 regulatory region, which includes 5' UTR exon 1 sequence, is characterized by multiple putative PU. l-binding sites and consensus ets-binding motifs. In marked contrast, the GC-rich type 2 regulatory region contains multiple putative Sp-l-binding sites, a potential consensus retinoblastoma control element (RCE); and an inverted CCAAT box. Type 2 promoter has a wide tissue distribution, a low constitutive level of expression, and multiple transcription initiation sites. However, normal and malignant lymphoid progenitors (fetal thymocytes and pre-B ALL) as well as fetal kidney and glioblastoma cell line A172 showed significantly higher levels of type 1 transcripts.
Transcription 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. The transcript variants 1, 1bis, and 2a contain an alternate 5' UTR exon, compared to variant 2b. The 2b variant is the longest transcript and includes alternate exon 2b. Variants 2b, 2a, 1bis and 1 all encode the same protein.
Transcript variant 1 mRNA has 5643 bp. Transcript variant 1bis mRNA has 5619 bp. Transcript variant 2a mRNA has 5665 bp. Transcript variant 2b mRNA has 5710 bp.
In normal human tissues, the highest mRNA levels were found in kidney, prostate, liver, and lung. Other tissues with high levels include whole blood, bone marrow, thymus, skeletal muscle, brain, ovary, testis, and placenta. Levels in lymph nodes and other secondary lymphoid tissues are dependent on the content of CD10+ B-cells in secondary germinal centers.

Protein

Note MME belongs to peptidase family M13, which belongs to a peptidase superfamily known as the metzincins. These are zinc-dependent metallopeptidases. Family M13 also includes endothelin-converting enzyme 1 (ECE-1), Kell blood group glycoprotein, and peptidase O from Lactococcus lactis (gene pepO).
Description MME protein contains 750 amino acids, and is a type-II membrane anchored enzyme known to inactivate oligopeptides. It has a single 24-amino acid hydrophobic segment that could function as both a transmembrane region and a signal peptide. The COOH-terminal 700 amino acids compose the extracellular protein segment, whereas the 25 NH2-terminal amino acids remaining after cleavage of the initiation methionine form the cytoplasmic tail.
Function Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides by cleavage of a Gly-Phe bond. Involved in the degradation of atrial natriuretic factor.
Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'. Inhibited in a dose dependent manner by opiorphin. Inhibited by phosphoramidon and thiorphan.

Mutations

Note Truncating mutations in the MME gene in mothers are the cause of alloimmunisation during pregnancy (1342 C to T nonsense mutation and 446delC). The absence of the MMP protein in pregnant women induces an alloimmunisation against MMP presented by fetus. Maternal antibodies attack fetal podocytes ensuing nephron loss, which could lead to chronic renal failure in early adulthood. This is the first model of idiopathic renal failure in early adulthood, which appears to be caused by immune-mediated fetal nephron loss.

Implicated in

Note
  
Entity Alzheimer disease and normal aging
Note Decreased MME expression in cerebral cortex correlates with amyloid-beta deposition but not with degeneration and dementia.
  
  
Entity Enkephalin metabolism in anxiety
Note A dinucleotide polymorphism in the 5' region of the MME gene was linked to type of anxiety.
  
  
Entity T-cell apoptosis
Note Both, CD8+ and CD4+ T-cells express MME upon induction of apoptosis in vitro as well as in apoptotic T-cells in vivo.
  
  
Entity Low amplitude of the P300 evoked potential waves (linked to substance abuse)
Note Based on the association of MME gene polymorphisms with P300 wave amplitudes of the parietal and coronal leads, it is suggested that MME plays a significant role in the regulation of the amplitude of the P300 wave.
It is presumed that lower molecular weight alleles of the MME polymorphism are associated with increased levels of NEP and thus lower CNS enkephalin levels.
  
  
Entity Recessive dystrophic epidermolysis bullosa
Note In recessive dystrophic epidermolysis bullose, MME activities were considerably increased in the skin and blister fluid samples compared with values found in normal control skin and in blister fluid from a patient with a burn.
  
  
Entity Acute lymphoblastic leukemia
Note MME is expressed in majority acute lymphoblastic leukemias, in which MME was originally described as common acute lymphocytic leukemia antigen (CALLA). The role of MME in acute leukemia is not clear.
  
  
Entity Burkitt lymphoma
Note Burkitt lymphoma/leukemia was originally misclassified with acute lymphoblastic leukemia due to its expression of CD10 and blastic cytologic appearance. However, now it is correctly classified as mature B-cell neoplasm and expression of MME (referred as to CD10 in this context) is secondary to its germinal center stage of development. In normal B-cell development MME transitory reappears on B-cells in germinal centers.
  
  
Entity Follicular lymphoma and other malignant lymphomas
Note Follicular lymphomas originate from mature B-cells with germinal center stage of differentiation. Majority of follicular lymphomas typically express MME (referred to in this context as CD10) and its expression positively correlates with survival and negatively with the grade of follicular lymphoma.
Other B-cell malignant lymphomas that typically express MME (CD10) are some diffuse large B-cell lymphomas (DLBCL) which are than subtyped as so-called germinal center type (GC-type DLBCL). Of T-cell lymphomas, angioimmunoblastic T-cell lymphoma typically shows expression of CD10.
  
  
Entity Carcinoma
Note MME is expressed in some carcinomas that originate in organs, which normally express high levels of MME, which is best illustrated in renal cell carcinoma. MME detection is important for identification of bile canaliculi, which appear by neogenesis in hepatocellular carcinoma. This feature is diagnostically useful in hepatocellular carcinoma. It is also expressed in many other carcinomas including prostate carcinoma, urothelial carcinoma, colorectal carcinoma, and others in which expression of higher levels of MME were associated with more aggressive tumors.
  
  
Entity Melanoma
Note Higher expression levels were associated with more aggressive disease.
  
  
Entity Stromal cells
Note Various benign stromal cells express MME. In particular, adipose tissue, endometrial stroma, and dendritic stromal cells in the bone marrow are know to express significant levels of MME. The role of MME in these tissue is not know. However, it possibly contributes to functional changes of the endometrial stromal in the secretory phase when its levels are highest in this tissue. It is also known that dendritic MME+ stromal cells of the bone marrow provide maturational niche for development of B-cells. Other MME+ benign stromal cells are induced by invasion of malignant tumors like melanoma, breast carcinoma, and others. In malignant stromal lesions MME has been found expressed in rhabdomyosarcoma, leiomyosarcoma and other sarcomas.
  
  
Entity Juvenile idiopathic arthritis (JIA) and rheumatoid arthritis (RA)
Note Circulating MME levels were lower in JIA patients than in controls, while synovial fluid values were higher than those found in circulation, which might reflect a reactive effort to control synovial proliferation. RA patients have higher levels of MME in plasma and synovial fluid than patients with osteoarthritis.
  
  
Entity Acne
Note Sebaceous glands in acne patients express high levels of MME. In addition, in vitro experiments using an organ culture system demonstrated that substance P induced expression MME in sebaceous glands in a dose dependent manner.
  
  
Entity Idiopathic diffuse hyperplasia of pulmonary neuroendorine cells (IDHPNC)
Note MME expression in patients with IDHPNC was compared with MME expression in patients with idiopathic pulmonary fibrosis, hypersensitivity pneumonitis, and normal lung by using immunohistochemistry, ELISA, activity assay, and Western blot analysis. MME expression was highest in IDHPNC. Increased MME expression in lung tissue from patients with IDHPNC may reflect a compensatory increase that partly counteracts abundant neuropeptides, including BLP, present in this disorder.
  
  
Entity Pathophysiology of ischemia/reperfusion myocardial injury
Note MME expression was increased in the neutrophils from patients with early phase of acute myocardial infarction (AMI) by 5.2- and by 4.2-fold of the neutrophils from patients with late phase of AMI, respectively. ANP and BNP, which increase in AMI, modulate the neutrophil functions and exert protective effects against the neutrophils-induced endothelial cytotoxity at the physiological concentrations. But the effects are suppressed due to their degradation by the neutrophil own MME. Thus, neutrophil MME, which also increases in AMI, may play a role in the pathophysiology of ischemia/reperfusion myocardial injury.
  

Bibliography

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Association of the neutral endopeptidase (MME) gene with anxiety.
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Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies.
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Cellular localization of membrane metalloendopeptidase (enkephalinase) in human endometrium during the ovarian cycle.
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Overexpression of CD10 and reduced MUC2 expression correlate with the development and progression of colorectal neoplasms.
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CD10 is a diagnostic and prognostic marker in renal malignancies.
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PMID 15500649
 
Common acute lymphocytic leukemia antigen is identical to neutral endopeptidase.
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PMID 8636398
 
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Citation

This paper should be referenced as such :
Torlakovic, Emina E
MME (membrane metallo-endopeptidase)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):304-307.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MMEID41386ch3q25.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Liver: Fibrolamellar carcinoma
Kidney: Mucinous tubular and spindle cell carcinoma


External links

Nomenclature
HGNC (Hugo)MME   7154
Cards
AtlasMMEID41386ch3q25
Entrez_Gene (NCBI)MME  4311  membrane metalloendopeptidase
AliasesCALLA; CD10; CMT2T; NEP; 
SCA43; SFE
GeneCards (Weizmann)MME
Ensembl hg19 (Hinxton)ENSG00000196549 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196549 [Gene_View]  chr3:155079647-155183729 [Contig_View]  MME [Vega]
ICGC DataPortalENSG00000196549
TCGA cBioPortalMME
AceView (NCBI)MME
Genatlas (Paris)MME
WikiGenes4311
SOURCE (Princeton)MME
Genetics Home Reference (NIH)MME
Genomic and cartography
GoldenPath hg38 (UCSC)MME  -     chr3:155079647-155183729 +  3q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MME  -     3q25.2   [Description]    (hg19-Feb_2009)
EnsemblMME - 3q25.2 [CytoView hg19]  MME - 3q25.2 [CytoView hg38]
Mapping of homologs : NCBIMME [Mapview hg19]  MME [Mapview hg38]
OMIM120520   614692   617017   617018   
Gene and transcription
Genbank (Entrez)AK291761 AK310664 AL833459 BC101632 BC101658
RefSeq transcript (Entrez)NM_000902 NM_007287 NM_007288 NM_007289
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MME
Cluster EST : UnigeneHs.307734 [ NCBI ]
CGAP (NCI)Hs.307734
Alternative Splicing GalleryENSG00000196549
Gene ExpressionMME [ NCBI-GEO ]   MME [ EBI - ARRAY_EXPRESS ]   MME [ SEEK ]   MME [ MEM ]
Gene Expression Viewer (FireBrowse)MME [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4311
GTEX Portal (Tissue expression)MME
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08473   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08473  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08473
Splice isoforms : SwissVarP08473
PhosPhoSitePlusP08473
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MetalloPept_cat_dom    MME/CD10/NEP    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)MME
DMDM Disease mutations4311
Blocks (Seattle)MME
PDB (SRS)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
PDB (PDBSum)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
PDB (IMB)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
PDB (RSDB)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
Structural Biology KnowledgeBase1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
SCOP (Structural Classification of Proteins)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
CATH (Classification of proteins structures)1DL9    1DMT    1QVD    1R1H    1R1I    1R1J    1Y8J    2QPJ    2YB9    4CTH    5JMY   
SuperfamilyP08473
Human Protein AtlasENSG00000196549
Peptide AtlasP08473
HPRD00392
IPIIPI00247063   IPI00654862   IPI00946548   IPI00945510   IPI00946944   IPI00945178   IPI00947417   
Protein Interaction databases
DIP (DOE-UCLA)P08473
IntAct (EBI)P08473
FunCoupENSG00000196549
BioGRIDMME
STRING (EMBL)MME
ZODIACMME
Ontologies - Pathways
QuickGOP08473
Ontology : AmiGOkidney development  angiotensin maturation  endopeptidase activity  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  focal adhesion  proteolysis  peptide metabolic process  synaptic vesicle  metallopeptidase activity  exopeptidase activity  zinc ion binding  integral component of membrane  sensory perception of pain  axon  dendrite  secretory granule membrane  peptide binding  neutrophil degranulation  neuron projection terminus  synapse  creatinine metabolic process  beta-amyloid metabolic process  extracellular exosome  cellular response to cytokine stimulus  cellular response to UV-A  cellular response to UV-B  replicative senescence  
Ontology : EGO-EBIkidney development  angiotensin maturation  endopeptidase activity  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  focal adhesion  proteolysis  peptide metabolic process  synaptic vesicle  metallopeptidase activity  exopeptidase activity  zinc ion binding  integral component of membrane  sensory perception of pain  axon  dendrite  secretory granule membrane  peptide binding  neutrophil degranulation  neuron projection terminus  synapse  creatinine metabolic process  beta-amyloid metabolic process  extracellular exosome  cellular response to cytokine stimulus  cellular response to UV-A  cellular response to UV-B  replicative senescence  
Pathways : KEGGRenin-angiotensin system    Hematopoietic cell lineage    Protein digestion and absorption    Alzheimer's disease   
REACTOMEP08473 [protein]
REACTOME PathwaysR-HSA-6798695 [pathway]   
NDEx NetworkMME
Atlas of Cancer Signalling NetworkMME
Wikipedia pathwaysMME
Orthology - Evolution
OrthoDB4311
GeneTree (enSembl)ENSG00000196549
Phylogenetic Trees/Animal Genes : TreeFamMME
HOVERGENP08473
HOGENOMP08473
Homologs : HomoloGeneMME
Homology/Alignments : Family Browser (UCSC)MME
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMME [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MME
dbVarMME
ClinVarMME
1000_GenomesMME 
Exome Variant ServerMME
ExAC (Exome Aggregation Consortium)MME (select the gene name)
Genetic variants : HAPMAP4311
Genomic Variants (DGV)MME [DGVbeta]
DECIPHERMME [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMME 
Mutations
ICGC Data PortalMME 
TCGA Data PortalMME 
Broad Tumor PortalMME
OASIS PortalMME [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMME  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMME
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MME
DgiDB (Drug Gene Interaction Database)MME
DoCM (Curated mutations)MME (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MME (select a term)
intoGenMME
NCG5 (London)MME
Cancer3DMME(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120520    614692    617017    617018   
Orphanet23470   
MedgenMME
Genetic Testing Registry MME
NextProtP08473 [Medical]
TSGene4311
GENETestsMME
Target ValidationMME
Huge Navigator MME [HugePedia]
snp3D : Map Gene to Disease4311
BioCentury BCIQMME
ClinGenMME
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4311
Chemical/Pharm GKB GenePA30864
Clinical trialMME
Miscellaneous
canSAR (ICR)MME (select the gene name)
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