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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]
MME (Membrane Metalloendopeptidase) is a Protein Coding gene. Diseases associated with MME include Charcot-Marie-Tooth Disease, Axonal, Type 2T and Spinocerebellar Ataxia 43. Among its related pathways are Collagen chain trimerization and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include peptidase activity and endopeptidase activity. An important paralog of this gene is MMEL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001786 | phosphatidylserine binding | IDA | 22183801 |
GO:0004175 | endopeptidase activity | IGI,IMP | 2531377 |
GO:0004222 | metalloendopeptidase activity | IEA,IMP | 2521388 |
GO:0005515 | protein binding | IPI | 17342744 |
GO:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 20876573 |
GO:0005769 | early endosome | IDA | 15100223 |
GO:0005802 | trans-Golgi network | IDA | 15100223 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 2521388 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics | ||
2 | Innate Immune System |
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3 | Peptide hormone metabolism | ||
4 | Parkinson disease | ||
5 | Hematopoietic cell lineage |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001822 | kidney development | IEP | 22272689 |
GO:0001890 | placenta development | IEA | -- |
GO:0002003 | angiotensin maturation | TAS | -- |
GO:0006508 | proteolysis | IEA,IMP | 19057576 |
GO:0006518 | peptide metabolic process | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | 1594 | |||
Liraglutide | Approved | Pharma | Agonist, Full agonist, Enzyme, substrate | 405 | ||
Sacubitril | Approved | Pharma | Target, antagonist, inhibitor | 0 | ||
Semaglutide | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
Thiorphan | Experimental | Pharma | Inhibitor, Inhibition, Target, inhibitor | 3 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MME 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MME 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mme 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mme 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MME 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | MME 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MME 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MME 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6265 32 |
|
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Nep1 31 32 |
|
ManyToMany | |||
Nep2 31 32 |
|
ManyToMany | |||
CG8358 32 |
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Nep4 31 32 |
|
ManyToMany | |||
BcDNA:GH07188 32 |
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CG14527 32 |
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CG14528 32 |
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CG5527 32 |
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CG14529 32 |
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CG4721 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | nep-2 31 |
|
ManyToMany | |
T05A8.4 32 |
|
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nep-1 31 |
|
ManyToMany | |||
T16A9.4 32 |
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nep-11 31 |
|
ManyToMany | |||
F26G1.6 32 |
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F54F11.2 32 |
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T25B6.2 32 |
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F18A12.1 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707888 | Benign: not provided | 155,172,592(+) | G/A | SYNONYMOUS_VARIANT | |
712514 | Benign: not provided | 155,143,445(+) | C/T | SYNONYMOUS_VARIANT | |
716853 | Benign: not provided | 155,138,167(+) | G/A | SYNONYMOUS_VARIANT | |
716854 | Benign: not provided | 155,142,080(+) | A/G | SYNONYMOUS_VARIANT | |
718611 | Likely Benign: not provided | 155,118,765(+) | G/C | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, axonal, type 2t |
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spinocerebellar ataxia 43 |
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congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
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charcot-marie-tooth disease, axonal, type 2e |
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adenosarcoma |
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