Gene

Emilin1

Species
Mus musculus
Symbol
Emilin1
Name
elastin microfibril interfacer 1
Synonyms
  • 5830419M17Rik
  • AW229038
Biotype
protein coding gene
Automated Description
Enables extracellular matrix constituent conferring elasticity and identical protein binding activity. Involved in several processes, including negative regulation of signal transduction; regulation of angiogenesis; and regulation of extracellular matrix organization. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular matrix. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1).
MGI Description
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15427
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Homo sapiensEMILIN110 of 10YesYes  
Rattus norvegicusEmilin19 of 9YesYes   
Xenopus tropicalisemilin17 of 9YesYes   
Danio rerioemilin1b8 of 10YesYes  
Danio rerioemilin1a8 of 10YesYes  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
Emilin21124638263 of 9 
Mmrn22110134213 of 9 
Mmrn13119732192 of 9 
Emilin3489638262 of 9 
Emid1595624182 of 9 
Col26a1659131242 of 9 
C1qtnf2722945312 of 9 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
abnormal aorta elastic tissue morphology
abnormal aorta wall morphology
abnormal dermal layer morphology
decreased platelet aggregation
increased prothrombin time
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume

Alleles and Variants

Genome location
Assembly version
GRCm39
Viewer Help
31.071M31.072M31.073M31.074M31.075M31.076M31.077M31.078M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.
Allele/Variant Symbol
Allele Synonyms
Category
Variant
Variant type
Molecular consequence
Has Disease Annotations
Has Phenotype Annotations
Emilin1tm1Gmb
  • Emi1-
allele
Yes
NC_000071.7:g.31071073G>Cvariant
SNP
  • 5 prime UTR variant
NC_000071.7:g.31073413C>Tvariant
SNP
  • intron variant
NC_000071.7:g.31071334T>Avariant
SNP
  • missense variant
NC_000071.7:g.31077181C>Tvariant
SNP
  • intron variant
NC_000071.7:g.31077218T>Cvariant
SNP
  • intron variant
NC_000071.7:g.31077270A>Cvariant
SNP
  • splice region variant
NC_000071.7:g.31077341T>Gvariant
SNP
  • intron variant
NC_000071.7:g.31077847A>Gvariant
SNP
  • intron variant
NC_000071.7:g.31077848G>Avariant
SNP
  • intron variant
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Transgenic Alleles

No data available

Models

Model name
Experimental condition
Associated Human Diseases
Associated Phenotypes
Modifier
Source
Emilin1tm1Gmb/Emilin1tm1Gmb [background:] either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * CD-1)
  • abnormal aorta elastic tissue morphology
  • abnormal aorta wall morphology
MGI
Emilin1tm1Gmb/Emilin1tm1Gmb [background:] involves: 129S1/Sv * 129X1/SvJ
  • decreased platelet aggregation
  • increased prothrombin time
MGI
Emilin1tm1Gmb/Emilin1tm1Gmb Emilin2tm1.2Jhp/Emilin2tm1.2Jhp [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6
  • abnormal blood coagulation
  • decreased platelet aggregation
MGI
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Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
31.071M31.072M31.073M31.074M31.075M31.076M31.077M31.078M

Sequence Details

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Expression

Primary Sources
Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

1 interactor gene based on 1 annotation
Emilin1 molecule type
Interactor gene
Interactor species
Interactor molecule type
Detection methods
Source
Reference
protein
PRKAA1Homo sapiens
protein
  • two hybrid
PMID:20368287
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Genetic Interactions

No data available