EMID1 (EMI Domain Containing 1)
Gene encoding a protein with EMI domains, involved in extracellular matrix organization and potential roles in development and disease.
Gene Information Card
| Symbol | EMID1 |
|---|---|
| Full Name | EMI Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 129080 ncbi.nlm.nih.gov/gene/129080 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 614423 |
| HGNC ID | 28086 |
| Aliases | EMID1, EMILIN-5, EMILIN5 |
Description
EMID1 (EMI Domain Containing 1) is a protein-coding gene located on chromosome 22q12.3. The encoded protein contains EMI domains, which are typically found in extracellular matrix proteins such as EMILINs. EMID1 is thought to play a role in cell adhesion, migration, and extracellular matrix organization. Expression data suggest involvement in developmental processes and potential implications in cancer and connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No direct evidence from authoritative sources |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.0 | Low expression |
| HEK 293 | 4.2 | Low expression |
| K562 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cell adhesion (GO:0007155) |
| • extracellular matrix structural constituent (GO:0030020) |
Pathways
• No specific pathways curated in Reactome or KEGG for EMID1.
Protein Summary
The EMID1 protein (UniProt Q9H0R8) is a 730-amino acid secreted protein containing an EMI domain, which is characteristic of the EMILIN family. It is predicted to localize to the extracellular matrix and may participate in cell-matrix interactions. Structural analysis suggests it may form homotrimers or heterotrimers with other EMILIN family members, contributing to elastic fiber assembly or matrix organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMID1 Knockout HEK293 Cell Line | EDJ-KQ9209 | Human | 129080 | Details Get a Quote |
| EMID1 Knockout HCT 116 Cell Line | EDJ-KQ35765 | Human | 129080 | Details Get a Quote |
| EMID1 Knockout HeLa Cell Line | EDJ-KQ58260 | Human | 129080 | Details Get a Quote |
| EMID1 Knockout A-549 Cell Line | EDJ-KQ66747 | Human | 129080 | Details Get a Quote |
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