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The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
MMEL1 (Membrane Metalloendopeptidase Like 1) is a Protein Coding gene. Diseases associated with MMEL1 include Primary Biliary Cirrhosis and Schwartz-Jampel Syndrome, Type 1. Among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is MME.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IDA | 18539150 |
GO:0004222 | metalloendopeptidase activity | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA | 18539150 |
GO:0016020 | membrane | IDA | 18539150 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | A-beta Plaque Formation and APP Metabolism | ||
2 | A-beta Uptake and Degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IDA | 18539150 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Racecadotril | Investigational | Pharma | 8 |
Compound | Action | Cas Number |
---|---|---|
Racecadotril | 81110-73-8 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | ||||||||||||||
SP3: | |||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MMEL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MMEL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MMEL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mmel1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mmel1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MMEL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MMEL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MMEL1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mmel1 30 |
|
||
Str.13545 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | mmel1 30 |
|
||
MMEL1 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003106 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nep4 30 31 |
|
ManyToMany | |
Nep1 31 |
|
ManyToMany | |||
Nep2 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | nep-2 30 31 |
|
ManyToMany | |
nep-1 31 |
|
ManyToMany | |||
nep-11 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708734 | Likely Benign: not provided | 2,592,689(-) | A/G | MISSENSE_VARIANT | |
712823 | Benign: not provided | 2,604,193(-) | T/C | MISSENSE_VARIANT | |
719695 | Benign: not provided | 2,592,725(-) | G/A | INTRON_VARIANT | |
719696 | Benign: not provided | 2,593,833(-) | C/T | SYNONYMOUS_VARIANT | |
719937 | Benign: not provided | 2,591,922(-) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv19e59 | CNV | duplication | 20981092 |
esv3582248 | CNV | gain | 25503493 |
esv3585029 | CNV | loss | 21293372 |
nsv1136059 | CNV | deletion | 24896259 |
nsv1144338 | CNV | deletion | 24896259 |
nsv428399 | CNV | gain | 18775914 |
nsv470684 | CNV | loss | 18288195 |
nsv545077 | CNV | gain | 21841781 |
nsv545082 | CNV | loss | 21841781 |
nsv545083 | CNV | gain | 21841781 |
nsv7171 | OTHER | inversion | 18451855 |
nsv829648 | CNV | loss | 17160897 |
nsv951592 | CNV | deletion | 24416366 |
nsv951593 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
primary biliary cirrhosis |
|
|
schwartz-jampel syndrome, type 1 |
|
|
nemaline myopathy 2 |
|
|
celiac disease 1 |
|
|