CEMIP: Cell Migration Inducing Hyaluronidase 1
A key regulator of hyaluronan degradation, cell migration, and cancer progression
Gene Information Card
| Symbol | CEMIP |
|---|---|
| Full Name | Cell Migration Inducing Hyaluronidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 57214 ncbi.nlm.nih.gov/gene/57214 |
| Ensembl ID | ENSG00000103888 |
| UniProt ID | Q8WUJ3 |
| OMIM ID | 608366 |
| HGNC ID | 29213 |
| Aliases | KIAA1199, HYBID, TMEM2L |
Description
CEMIP (Cell Migration Inducing Hyaluronidase 1), also known as KIAA1199, encodes a protein that functions as a hyaluronidase, degrading hyaluronan into smaller fragments. This activity promotes cell migration, invasion, and proliferation. CEMIP is overexpressed in various cancers and is associated with poor prognosis. It also plays roles in inflammation, fibrosis, and hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal, gastric, lung, etc.) | Overexpression of CEMIP promotes hyaluronan degradation, facilitating tumor cell migration, invasion, and metastasis. | Multiple studies (e.g., PMID: 23455478, PMID: 25605248) show CEMIP upregulation correlates with metastasis and poor survival. |
| Hearing loss (non-syndromic, autosomal recessive) | Mutations in CEMIP cause defects in hyaluronan homeostasis in the inner ear, leading to progressive hearing loss. | OMIM #608366; PMID: 17924349 |
| Rheumatoid arthritis | CEMIP-mediated hyaluronan degradation in synovial fluid contributes to joint inflammation and cartilage destruction. | PMID: 25505247 |
| Pulmonary fibrosis | CEMIP expression is elevated in fibrotic lung tissue, promoting fibroblast migration and extracellular matrix remodeling. | PMID: 28790179 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 15.2 | Medium |
| Stomach | 18.9 | Medium |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Skin | 22.4 | High |
| Adipose tissue | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 45.3 | High expression; associated with invasive phenotype |
| HCT116 (colorectal cancer) | 38.7 | High expression; promotes migration |
| A549 (lung cancer) | 22.1 | Moderate expression |
| HEK293 (embryonic kidney) | 5.2 | Low expression |
| HaCaT (keratinocyte) | 30.5 | High expression; role in skin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1525C>T (p.Arg509*) | Nonsense | Rare | Loss of function; associated with hearing loss |
| c.2236G>A (p.Gly746Arg) | Missense | Rare | Unknown functional effect; reported in cancer |
| c.3344A>G (p.Asn1115Ser) | Missense | Rare | Unknown functional effect |
| Amplification | Copy number gain | Frequent in breast cancer | Gain of function; increased expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg509*) lead to truncated protein and loss of hyaluronidase activity, associated with hearing loss.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance hyaluronan degradation, promoting cell migration and invasion.
Dominant Negative (DN)
No well-characterized dominant negative mutations reported for CEMIP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hyaluronan metabolism
• ECM-receptor interaction
• PI3K-Akt signaling pathway
• Focal adhesion
Protein Summary
The CEMIP protein (UniProt Q8WUJ3) is a 1,361-amino acid transmembrane protein with hyaluronidase activity. It is localized to the plasma membrane and extracellular space. CEMIP degrades high-molecular-weight hyaluronan into smaller fragments, which promote cell migration, inflammation, and angiogenesis. The protein contains a G8 domain and a hyaluronan-binding domain. Its expression is induced by growth factors and inflammatory stimuli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEMIP2 Knockout HEK293 Cell Line | EDJ-KQ3068 | Human | 23670 | Details Get a Quote |
| CEMIP Knockout HEK293 Cell Line | EDJ-KQ12153 | Human | 57214 | Details Get a Quote |
| CEMIP2 Knockout A-549 Cell Line | EDJ-KQ24339 | Human | 23670 | Details Get a Quote |
| CEMIP2 Knockout HeLa Cell Line | EDJ-KQ24341 | Human | 23670 | Details Get a Quote |
| CEMIP Knockout HCT 116 Cell Line | EDJ-KQ40847 | Human | 57214 | Details Get a Quote |
| CEMIP Knockout HeLa Cell Line | EDJ-KQ56824 | Human | 57214 | Details Get a Quote |
| CEMIP Knockout A-549 Cell Line | EDJ-KQ65333 | Human | 57214 | Details Get a Quote |
| CEMIP2 Knockout HCT 116 Cell Line | EDJ-KQ77932 | Human | 23670 | Details Get a Quote |
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