Identity
HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
EMI,EMILIN,gp115
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11117
MIM: 130660
HGNC: 19880
Ensembl: ENSG00000138080
Variants:
dbSNP: 11117
ClinVar: 11117
TCGA: ENSG00000138080
COSMIC: EMILIN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138080 | ENST00000380320 | Q9Y6C2 |
| ENSG00000138080 | ENST00000433140 | A0A0A0MT20 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38427078 | 2024 | Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma. | 0 |
| 38505604 | 2024 | Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-β activity and CD8(+) T-cell infiltration in breast cancer. | 1 |
| 38427078 | 2024 | Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma. | 0 |
| 38505604 | 2024 | Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-β activity and CD8(+) T-cell infiltration in breast cancer. | 1 |
| 37024847 | 2023 | The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells. | 0 |
| 37024847 | 2023 | The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells. | 0 |
| 34783040 | 2022 | Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia. | 2 |
| 35764213 | 2022 | EMILIN-1 deficiency promotes chronic inflammatory disease through TGFβ signaling alteration and impairment of the gC1q/α4β1 integrin interaction. | 2 |
| 36351433 | 2022 | EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. | 3 |
| 34783040 | 2022 | Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative prosurvival VLA-4 ligand in chronic lymphocytic leukemia. | 2 |
| 35764213 | 2022 | EMILIN-1 deficiency promotes chronic inflammatory disease through TGFβ signaling alteration and impairment of the gC1q/α4β1 integrin interaction. | 2 |
| 36351433 | 2022 | EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. | 3 |
| 30408617 | 2019 | Integrin binding site within the gC1q domain orchestrates EMILIN-1-induced lymphangiogenesis. | 10 |
| 31242895 | 2019 | TSPAN9 and EMILIN1 synergistically inhibit the migration and invasion of gastric cancer cells by increasing TSPAN9 expression. | 19 |
| 30408617 | 2019 | Integrin binding site within the gC1q domain orchestrates EMILIN-1-induced lymphangiogenesis. | 10 |
Citation
Dessen P
EMILIN1 (elastin microfibril interfacer 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-07-01
Online version: http://atlasgeneticsoncology.org/gene/57392/emilin1-(elastin-microfibril-interfacer-1)
