ENSMUSG00000029866


Mus musculus

Features
Gene ID: ENSMUSG00000029866
  
Biological name :Kel
  
Synonyms : Kel / Kell blood group glycoprotein homolog / Q9EQF2
  
Possible biological names infered from orthology : Kell blood group, metallo-endopeptidase / P23276
  
Species: Mus musculus
  
Chr. number: 6
Strand: -1
Band: B2.1
Gene start: 41686330
Gene end: 41704339
  
Corresponding Affymetrix probe sets: 10544383 (MoGene1.0st)   1449057_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000142058
Ensembl peptide - ENSMUSP00000031899
Ensembl peptide - ENSMUSP00000141251
NCBI entrez gene - 23925     See in Manteia.
MGI - MGI:1346053
RefSeq - XM_017321572
RefSeq - NM_032540
RefSeq - XM_006506057
RefSeq - XM_006506058
RefSeq - XM_006506059
RefSeq Peptide - NP_115929
swissprot - A0A0A6YXM8
swissprot - A0A0A6YVT2
swissprot - Q9EQF2
Ensembl - ENSMUSG00000029866
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kelENSDARG00000076950Danio rerio
 KELENSGALG00000014736Gallus gallus
 KELENSG00000197993Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ece1 / Q4PZA2 / Endothelin-converting enzyme 1 / P42892*ENSMUSG0000005753032
Ece2 / O60344* / EEF1AKMT4-ECE2* / EEF1AKMT4-ECE2 readthrough* / endothelin converting enzyme 2*ENSMUSG0000011529330
Ece2 / O60344* / EEF1AKMT4-ECE2* / EEF1AKMT4-ECE2 readthrough* / endothelin converting enzyme 2*ENSMUSG0000002284230
Ecel1 / Q9JMI0 / Endothelin-converting enzyme-like 1 / O95672*ENSMUSG0000002624728
Mmel1 / membrane metallo-endopeptidase-like 1 / Q495T6* / membrane metalloendopeptidase like 1*ENSMUSG0000005818326
Phex / P70669 / Metalloendopeptidase homolog PEX / P78562* / phosphate regulating endopeptidase homolog X-linked*ENSMUSG0000005745725
Mme / Q61391 / Neprilysin / P08473* / membrane metalloendopeptidase*ENSMUSG0000002782023


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
 IPR029737  Kell blood group glycoprotein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IGI
 biological_processGO:0008361 regulation of cell size IGI
 biological_processGO:0010961 cellular magnesium ion homeostasis IGI
 biological_processGO:0031133 regulation of axon diameter IGI
 biological_processGO:0042552 myelination IMP
 biological_processGO:0048741 skeletal muscle fiber development IGI
 biological_processGO:1901380 negative regulation of potassium ion transmembrane transport IGI
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004175 endopeptidase activity ISS
 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
Peptide ligand-binding receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0002640 reticulocytosis "an increase in the number of reticulocytes in the blood" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0005641 increased mean corpuscular hemoglobin concentration "greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0005642 decreased mean corpuscular hemoglobin concentration "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0008850 increased hemoglobin concentration distribution width "higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0008954 abnormal cellular hemoglobin content "anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0010508 abnormal heart electrocardiography waveform feature "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:20410536]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0010511 shortened PR interval "decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0010738 abnormal internode morphology "any structrual anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath" [PMID:18929652]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0011730 increased myelin sheath thickness "increase in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0011731 decreased myelin sheath thickness "decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Xktm1Ariv
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0011913 abnormal reticulocyte cell number "altered number of immature (nucleated) erythrocytes" [MPD:Molly]
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Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0011954 shortened PQ interval "decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave" [MPD:Molly]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0012365 increased erythrocyte sodium level "increase in the amount in red blood cells of sodium" [MPD:Molly]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

 MP:0012367 decreased erythrocyte magnesium level "decrease in the amount in red blood cells of magnesium" [MPD:Molly]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0012370 decreased erythrocyte potassium level "decrease in the amount in red blood cells of potassium" [MPD:Molly]
Show

Allelic Composition: Apptm1Ck/Apptm1Ck
Genetic Background: involves: 129

 MP:0012372 abnormal erythrocyte ion content "abnormal quantity in red blood cells of atoms carrying an electric charge" [MPD:Molly]
Show

Allelic Composition: Keltm1Slee/Keltm1Slee,Xktm1Ariv/Y
Genetic Background: B6.Cg-Keltm1Slee Xktm1Ariv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000015342 Xk / Q9QXY7 / X-linked Kx blood group / P51811*  / complex
 ENSMUSG00000027524 Edn3 / P48299 / Endothelin-3 / P14138*  / reaction






 

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