ENSMUSG00000029675


Mus musculus

Features
Gene ID: ENSMUSG00000029675
  
Biological name :Eln
  
Synonyms : Elastin / Eln / P54320
  
Possible biological names infered from orthology : P15502
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: G2
Gene start: 134702593
Gene end: 134747323
  
Corresponding Affymetrix probe sets: 10534343 (MoGene1.0st)   1420854_at (Mouse Genome 430 2.0 Array)   1420855_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000015138
Ensembl peptide - ENSMUSP00000144555
NCBI entrez gene - 13717     See in Manteia.
MGI - MGI:95317
RefSeq - XM_011240855
RefSeq - NM_007925
RefSeq - XM_006504360
RefSeq Peptide - NP_031951
swissprot - P54320
swissprot - A0A0J9YV95
Ensembl - ENSMUSG00000029675
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000043703Gallus gallus
 ELNENSG00000049540Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003979  Tropoelastin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007519 skeletal muscle tissue development IMP
 biological_processGO:0030198 extracellular matrix organization IDA
 biological_processGO:0030833 regulation of actin filament polymerization IMP
 biological_processGO:0043149 stress fiber assembly IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0071953 elastic fiber IDA
 molecular_functionGO:0005201 extracellular matrix structural constituent IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0050840 extracellular matrix binding IDA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000231 hypertension "sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0000249 abnormal blood vessel physiology "anomalous function of any of the tubes that convey blood: arteries, arterioles, capallaries, venules, veins" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000484 abnormal pulmonary artery morphology "structrual anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, hdene:Howard Dene, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001183 overexpanded alveoli "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0001958 emphysema "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002191 abnormal artery morphology "malformation of the blood vessels that carry blood away from the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0002747 abnormal aortic valve morphology "malformation of the valve between the left ventricle and the ascending aorta" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003352 increased circulating renin level "elevated blood concentration of this enzyme which is secreted by the kidney; it cleaves a bond in angiotensionogen to generate angiotensin I " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0003394 increased cardiac output "greater than normal blood volume pumped by each ventricle per minute" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0003395 abnormal subclavian artery morphology "malformation of the right or left subclavian arteries, The right subclavian artery extends from the brachiocephalic artery to the right side of the body. The left subclavian artery extends from the aortic arch to the left side of the body." [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0003410 abnormal artery development "anomaly in the process of forming the blood vessels that carry blood away from the heart" [J:94740, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0003907 decreased aorta elastin content "reduction in the physical amount of elastin in the aorta compared to the normal state" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0004875 increased mean arterial blood pressure "increase in the average arterial pressure during a single cardiac cycle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0004883 abnormal blood vessel healing "anomaly in the repair process of blood vessels after injury" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006027 impaired alveologenesis "a block or reduction in the generation of alveoli" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:85546]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0006083 abnormal vascular elastic tissue "malformation in the tissue that is found in the tunica media of the vessels wall and allows vessels to stretch" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006133 arterial calcification "pathologic deposition of calcium salts in the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Elntm1Dyl/Eln+,Mgptm1Kry/Mgptm1Kry
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0006135 arterial stenosis "abnormal narrowing of the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0006143 increased diastolic blood pressure "abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0006144 increased systolic blood pressure "abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
Show

Allelic Composition: Elntm1Dyl/Eln+,Mgptm1Kry/Mgptm1Kry
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0009862 abnormal aorta elastic tissue morphology "any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009866 abnormal aorta wall morphology "any structural anomaly of the part of the aorta that encloses the luminal space" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0010598 abnormal aortic valve anulus morphology "any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010996 increased aorta wall thickness "increased depth of the part of the aorta that encloses the luminal space" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0010997 decreased aorta wall thickness "decreased depth of the part of the aorta that encloses the luminal space" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Ckmm-cre)5Khn/0,Tg(Myh6-Pik3ca)1Siz/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0011951 increased cardiac stroke volume "increase in the volume of blood pushed into the aorta with each beat of the heart" [MGI:csmith]
Show

Allelic Composition: Elntm1Dyl/Eln+
Genetic Background: B6.129-Elntm1Dyl

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000029163 Q99K41 / Emilin1 / Q9Y6C2* / elastin microfibril interfacer 1*  / complex
 ENSMUSG00000021186 Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*  / complex
 ENSMUSG00000030116 Mfap5 / Q9QZJ6 / Microfibrillar-associated protein 5 / Q13361* / microfibril associated protein 5*  / complex
 ENSMUSG00000029675 Eln / P54320 / Elastin / P15502*  / - / complex
 ENSMUSG00000027204 Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*  / complex
 ENSMUSG00000024598 Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*  / complex
 ENSMUSG00000060572 Mfap2 / microfibril associated protein 2 / P55001*  / complex
 ENSMUSG00000020522 Mfap3 / microfibril associated protein 3 / P55082*  / reaction / complex
 ENSMUSG00000017344 Vtn / P29788 / vitronectin / P04004*  / complex / reaction
 ENSMUSG00000024529 Lox / P28301 / Protein-lysine 6-oxidase / P28300* / lysyl oxidase*  / reaction
 ENSMUSG00000042436 Mfap4 / Q9D1H9 / Microfibril-associated glycoprotein 4 / P55083* / microfibril associated protein 4*  / reaction / complex
 ENSMUSG00000032334 Loxl1 / lysyl oxidase like 1 / Q08397*  / reaction
 ENSMUSG00000048222 C0HKD9 / C0HKD8 / Mfap1b / Microfibrillar-associated protein 1A / MFAP1* / P55081* / microfibril associated protein 1*  / reaction / complex






 

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