EMILIN1 (elastin microfibril interfacer 1)

2018-07-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
EMI,EMILIN,gp115
FUSION GENES

Other Information

Locus ID:

NCBI: 11117
MIM: 130660
HGNC: 19880
Ensembl: ENSG00000138080

Variants:

dbSNP: 11117
ClinVar: 11117
TCGA: ENSG00000138080
COSMIC: EMILIN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138080ENST00000380320Q9Y6C2
ENSG00000138080ENST00000433140A0A0A0MT20

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184113052008Emilin1 deficiency causes structural and functional defects of lymphatic vasculature.34
124566772003beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain.25
185649212008Candidate gene analysis in primary lymphedema.16
184631002008The solution structure of EMILIN1 globular C1q domain reveals a disordered insertion necessary for interaction with the alpha4beta1 integrin.13
228147522012Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure.13
226395472012Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk.11
264627402016Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.11
179888452008EMILINs interact with anthrax protective antigen and inhibit toxin action in vitro.8
245130402014Neutrophil elastase-dependent cleavage compromises the tumor suppressor role of EMILIN1.6
270907672016Brief Report: Elastin Microfibril Interface 1 and Integrin-Linked Protein Kinase Are Novel Markers of Islet Regenerative Function in Human Multipotent Mesenchymal Stromal Cells.6

Citation

Dessen P

EMILIN1 (elastin microfibril interfacer 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57392/emilin1