ENSG00000142606


Homo sapiens

Features
Gene ID: ENSG00000142606
  
Biological name :MMEL1
  
Synonyms : membrane metalloendopeptidase like 1 / MMEL1 / Q495T6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.32
Gene start: 2590639
Gene end: 2632990
  
Corresponding Affymetrix probe sets: 1552930_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367668
Ensembl peptide - ENSP00000422492
Ensembl peptide - ENSP00000425477
Ensembl peptide - ENSP00000461938
NCBI entrez gene - 79258     See in Manteia.
RefSeq - XM_017002315
RefSeq - NM_033467
RefSeq - XM_017002312
RefSeq - XM_017002313
RefSeq - XM_017002314
RefSeq - XM_011542122
RefSeq - XM_017002310
RefSeq - XM_017002311
RefSeq Peptide - NP_258428
swissprot - Q495T6
swissprot - J3KRD2
Ensembl - ENSG00000142606
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mmel1ENSDARG00000105389Danio rerio
 MMEL1ENSGALG00000001115Gallus gallus
 Mmel1ENSMUSG00000058183Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MME / P08473 / membrane metalloendopeptidaseENSG0000019654951
ECE2 / O60344 / endothelin converting enzyme 2ENSG0000014519438
ECE1 / P42892 / endothelin converting enzyme 1ENSG0000011729837
O60344 / EEF1AKMT4-ECE2 / EEF1AKMT4-ECE2 readthroughENSG0000028491737
PHEX / P78562 / phosphate regulating endopeptidase homolog X-linkedENSG0000010217436
ECEL1 / O95672 / endothelin converting enzyme like 1ENSG0000017155133
KEL / P23276 / Kell blood group, metallo-endopeptidaseENSG0000019799325


Protein motifs (from Interpro)
Interpro ID Name
 IPR000718  Peptidase M13
 IPR008753  Peptidase M13, N-terminal domain
 IPR018497  Peptidase M13, C-terminal domain
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR029735  Membrane metallo-endopeptidase-like 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000820 Abnormality of the thyroid gland 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0000953 Hyperpigmentation 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001262 Somnolence 
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001409 Portal hypertension 
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 HP:0001541 Ascites 
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 HP:0002608 Celiac disease 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003119 Abnormality of lipid metabolism 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004386 Gastrointestinal inflammatory disorder 
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 HP:0011040 Abnormality of the intrahepatic bile duct "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson]
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 HP:0011971 Dermatographic urticaria "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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