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Aliases for MME Gene

Aliases for MME Gene

  • Membrane Metalloendopeptidase 2 3 5
  • Common Acute Lymphocytic Leukemia Antigen 3 4
  • Neutral Endopeptidase 24.11 3 4
  • Skin Fibroblast Elastase 3 4
  • Neutral Endopeptidase 2 4
  • Atriopeptidase 3 4
  • Enkephalinase 2 4
  • EC 3.4.24.11 4 61
  • Neprilysin 2 3
  • CALLA 3 4
  • NEP 3 4
  • SFE 3 4
  • Membrane Metallo-Endopeptidase (Neutral Endopeptidase, Enkephalinase, CALLA, CD10) 3
  • Membrane Metallo-Endopeptidase Variant 1 3
  • Membrane Metallo-Endopeptidase Variant 2 3
  • Neprilysin-390 3
  • Neprilysin-411 3
  • CD10 Antigen 4
  • EC 3.4.24 61
  • CMT2T 3
  • SCA43 3
  • CD10 3
  • EPN 4

External Ids for MME Gene

Previous GeneCards Identifiers for MME Gene

  • GC03P151792
  • GC03P155641
  • GC03P156079
  • GC03P156118
  • GC03P156280
  • GC03P154741
  • GC03P152191

Summaries for MME Gene

Entrez Gene Summary for MME Gene

  • 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]

GeneCards Summary for MME Gene

MME (Membrane Metalloendopeptidase) is a Protein Coding gene. Diseases associated with MME include Charcot-Marie-Tooth Disease Type 2T and Charcot-Marie-Tooth Disease, Axonal, Type 2T. Among its related pathways are Immune System and Primary Focal Segmental Glomerulosclerosis FSGS. GO annotations related to this gene include peptidase activity and endopeptidase activity. An important paralog of this gene is MMEL1.

UniProtKB/Swiss-Prot for MME Gene

  • Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).

Tocris Summary for MME Gene

Gene Wiki entry for MME Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MME Gene

Genomics for MME Gene

Regulatory Elements for MME Gene

Enhancers for MME Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F154969 1.3 FANTOM5 Ensembl ENCODE 18.7 -52.7 -52677 3.5 CEBPB CEBPG EP300 GATA3 JUND HMBOX1 NFE2 FOS TRIM24 MAFK MME MME-AS1 LOC105374171
GH03F155077 0.2 ENCODE 17.6 +56.7 56723 5.8 PKNOX1 ZNF76 SIN3A RAD21 YY1 GLIS2 ZNF366 FOS ZNF263 SP3 MME MME-AS1
GH03F155068 1.3 FANTOM5 Ensembl ENCODE 16.1 +46.5 46474 3.9 PKNOX1 HINFP JUN ZNF175 SIN3A MAX CEBPG CHAMP1 GATA3 DIDO1 MME MME-AS1
GH03F155000 1 FANTOM5 Ensembl ENCODE 13.6 -22.8 -22804 1.4 ZNF217 GATA3 HLF CEBPB MME LOC105374171
GH03F155064 1.3 FANTOM5 Ensembl ENCODE 11.2 +41.5 41532 2.4 PKNOX1 ATF3 PBX2 BHLHE40 HMBOX1 CEBPB MME MME-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MME on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MME gene promoter:

Genomic Location for MME Gene

Chromosome:
3
Start:
155,024,124 bp from pter
End:
155,183,729 bp from pter
Size:
159,606 bases
Orientation:
Plus strand

Genomic View for MME Gene

Genes around MME on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MME Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MME Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MME Gene

Proteins for MME Gene

  • Protein details for MME Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08473-NEP_HUMAN
    Recommended name:
    Neprilysin
    Protein Accession:
    P08473
    Secondary Accessions:
    • A8K6U6
    • D3DNJ9
    • Q3MIX4

    Protein attributes for MME Gene

    Size:
    750 amino acids
    Molecular mass:
    85514 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Important cell surface marker in the diagnostic of human acute lymphocytic leukemia.
    SequenceCaution:
    • Sequence=CAA30157.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MME Gene

neXtProt entry for MME Gene

Post-translational modifications for MME Gene

  • Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.
  • Myristoylation is a determinant of membrane targeting.
  • Glycosylation at Asn 145, Asn 285, Asn 325, and Asn 628
  • Modification sites at PhosphoSitePlus

Domains & Families for MME Gene

Gene Families for MME Gene

Suggested Antigen Peptide Sequences for MME Gene

Graphical View of Domain Structure for InterPro Entry

P08473

UniProtKB/Swiss-Prot:

NEP_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with MME: view

Function for MME Gene

Molecular function for MME Gene

GENATLAS Biochemistry:
zinc metallopeptidase,membrane (neutral endopeptidase 24.11,enkephalinase),constitutively expressed in various tissues,developmentally regulated in other cell types,i.e. lymphocytes
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=55.1 uM for angiotensin-1 {ECO:0000269 PubMed:15283675}; KM=179 uM for angiotensin-2 {ECO:0000269 PubMed:15283675}; KM=111.4 uM for angiotensin 1-9 {ECO:0000269 PubMed:15283675};
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in a dose dependent manner by opiorphin.
UniProtKB/Swiss-Prot Function:
Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).

Enzyme Numbers (IUBMB) for MME Gene

Gene Ontology (GO) - Molecular Function for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP 2531377
GO:0004222 metalloendopeptidase activity IEA,IMP 2521388
GO:0005515 protein binding IPI 17342744
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity EXP,IEA 15283675
genes like me logo Genes that share ontologies with MME: view
genes like me logo Genes that share phenotypes with MME: view

Animal Models for MME Gene

MGI Knock Outs for MME:

Animal Model Products

miRNA for MME Gene

miRTarBase miRNAs that target MME

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MME Gene

Localization for MME Gene

Subcellular locations from UniProtKB/Swiss-Prot for MME Gene

Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MME Gene COMPARTMENTS Subcellular localization image for MME gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 3
chloroplast 2
cytosol 2
vacuole 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20876573
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane NAS 2521388
GO:0005903 brush border IDA 22272689
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with MME: view

Pathways & Interactions for MME Gene

genes like me logo Genes that share pathways with MME: view

SIGNOR curated interactions for MME Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEP 22272689
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IEA,IDA 8168535
GO:0006518 peptide metabolic process ISS --
GO:0019233 sensory perception of pain ISS --
genes like me logo Genes that share ontologies with MME: view

Drugs & Compounds for MME Gene

(89) Drugs for MME Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2231
Liraglutide Approved Pharma Full agonist, Agonist, Enzyme, substrate 315
Sacubitril Approved Pharma Target, antagonist, inhibitor 0
Candoxatril Experimental Pharma inhibitor, Target 0
Thiorphan Experimental Pharma Inhibition, Inhibitor, Target, inhibitor 5

(53) Additional Compounds for MME Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for MME Gene

Compound Action Cas Number
AHU-377 hemicalcium salt Potent neprilysin inhibitor 1369773-39-6
AHU-377(Sacubitril) Neprilysin inhibitor 149709-62-6
Phosphoramidon Disodium Salt 164204-38-0
Racecadotril 81110-73-8
genes like me logo Genes that share compounds with MME: view

Transcripts for MME Gene

Unigene Clusters for MME Gene

Membrane metallo-endopeptidase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MME Gene

No ASD Table

Relevant External Links for MME Gene

GeneLoc Exon Structure for
MME
ECgene alternative splicing isoforms for
MME

Expression for MME Gene

mRNA expression in normal human tissues for MME Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MME Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for MME Gene

This gene is overexpressed in Urine (32.3), Pancreatic juice (19.6), and Kidney (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MME Gene



NURSA nuclear receptor signaling pathways regulating expression of MME Gene:

MME

SOURCE GeneReport for Unigene cluster for MME Gene:

Hs.307734
genes like me logo Genes that share expression patterns with MME: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MME Gene

Orthologs for MME Gene

This gene was present in the common ancestor of animals.

Orthologs for MME Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MME 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia MME 34 35
  • 91.41 (n)
rat
(Rattus norvegicus)
Mammalia Mme 34
  • 91.02 (n)
cow
(Bos Taurus)
Mammalia MME 34 35
  • 90.89 (n)
mouse
(Mus musculus)
Mammalia Mme 34 16 35
  • 90.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MME 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MME 34 35
  • 77.29 (n)
lizard
(Anolis carolinensis)
Reptilia MME 35
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6265 36
  • 45 (a)
Nep1 36 35
  • 41 (a)
Nep2 36 35
  • 35 (a)
Nep4 36 35
  • 35 (a)
CG8358 36
  • 31 (a)
BcDNA:GH07188 36
  • 25 (a)
CG14527 36
  • 25 (a)
CG14528 36
  • 25 (a)
CG5527 36
  • 25 (a)
CG14529 36
  • 24 (a)
CG4721 36
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea T05A8.4 36
  • 36 (a)
nep-2 35
  • 36 (a)
ManyToMany
T16A9.4 36
  • 31 (a)
nep-1 35
  • 31 (a)
ManyToMany
nep-11 35
  • 30 (a)
ManyToMany
F26G1.6 36
  • 29 (a)
F54F11.2 36
  • 27 (a)
T25B6.2 36
  • 23 (a)
F18A12.1 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for MME was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MME Gene

ENSEMBL:
Gene Tree for MME (if available)
TreeFam:
Gene Tree for MME (if available)

Paralogs for MME Gene

Paralogs for MME Gene

genes like me logo Genes that share paralogs with MME: view

Variants for MME Gene

Sequence variations from dbSNP and Humsavar for MME Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs765591205 Pathogenic 155,118,744(+) TTTAT(A/G)GATTG splice-acceptor-variant
rs879253751 Pathogenic 155,118,752(+) TTGAC(C/T)AACCT reference, stop-gained
rs879253752 Pathogenic 155,168,572(+) CCCAG(C/T)GCATG reference, missense
rs879255651 Pathogenic 155,116,548(+) GTCTT(A/G)TATAA reference, missense
rs749320057 other 155,116,690(+) GAGAA(-/C)CTCTA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for MME Gene

Variant ID Type Subtype PubMed ID
esv3598262 CNV loss 21293372
esv3598264 CNV loss 21293372
nsv1000140 CNV loss 25217958
nsv474350 CNV novel sequence insertion 20440878
nsv829762 CNV gain 17160897

Variation tolerance for MME Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MME Gene

Human Gene Mutation Database (HGMD)
MME
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MME

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MME Gene

Disorders for MME Gene

MalaCards: The human disease database

(118) MalaCards diseases for MME Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease type 2t
  • charcot-marie-tooth disease, axonal, type 2t
charcot-marie-tooth disease, axonal, type 2t
  • charcot-marie-tooth disease axonal type 2t
membranous nephropathy
  • membranous glomerulonephritis, antenatal
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
adenosarcoma
  • mullerian adenosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MME in MalaCards View complete list of genes associated with diseases

Relevant External Links for MME

Genetic Association Database (GAD)
MME
Human Genome Epidemiology (HuGE) Navigator
MME
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MME
genes like me logo Genes that share disorders with MME: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MME Gene

Publications for MME Gene

  1. [Association of the neprilysin and apolipoprotein E gene polymorphisms with Alzheimer's disease in Xinjiang Uygur population]. (PMID: 20376800) Zhou X.H. … Luo X.M. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 22 46 64
  2. Lack of association of neprilysin gene polymorphisms with Alzheimer's disease in a southern Chinese community. (PMID: 19250583) Fu Y. … Zhao Z.H. (Int Psychogeriatr 2009) 3 22 46 64
  3. Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon. (PMID: 10669592) Oefner C. … Dale G.E. (J. Mol. Biol. 2000) 3 4 22 64
  4. Asp650 is crucial for catalytic activity of neutral endopeptidase 24- 11. (PMID: 8168535) Le Moual H. … Boileau G. (Eur. J. Biochem. 1994) 3 4 22 64
  5. Estrogen stimulates degradation of beta-amyloid peptide by up-regulating neprilysin. (PMID: 19897485) Liang K. … Huang J. (J. Biol. Chem. 2010) 3 22 64

Products for MME Gene

  • Addgene plasmids for MME

Sources for MME Gene

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