MAPRE3: Microtubule-Associated Protein RP/EB Family Member 3
A key regulator of microtubule dynamics and cell polarity, implicated in cancer and ciliopathies.
Gene Information Card
| Symbol | MAPRE3 |
|---|---|
| Full Name | Microtubule-Associated Protein RP/EB Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 22924 ncbi.nlm.nih.gov/gene/22924 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9UPY8 |
| OMIM ID | 605788 |
| HGNC ID | 6892 |
| Aliases | EB3, EBF3, RP3 |
Description
MAPRE3 (Microtubule-Associated Protein RP/EB Family Member 3) encodes a member of the RP/EB family of microtubule-associated proteins. The protein, also known as EB3, binds to the plus ends of microtubules and regulates microtubule dynamics, cell polarity, and cell migration. It is involved in processes such as ciliogenesis, neuronal development, and cell division. MAPRE3 is expressed in various tissues and is implicated in cancer and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, lung, colorectal) | Altered MAPRE3 expression affects microtubule stability and cell migration, promoting tumor progression. | COSMIC; literature (PMID: 25691885) |
| Ciliopathies | MAPRE3 is involved in ciliogenesis; mutations may disrupt primary cilium formation. | UniProt; literature (PMID: 20643351) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 4.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 7.5 | Lung cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| HEK293 | 11.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; start codon loss |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown significance |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) may disrupt protein expression or microtubule binding.
Gain of Function (GOF)
Not well documented; no known activating mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule plus-end binding |
| • protein homodimerization activity | • cell division |
| • microtubule cytoskeleton organization | • ciliary basal body-plasma membrane docking |
| • cell migration |
Pathways
• Microtubule dynamics (Reactome: R-HSA-983231)
• Cilium assembly (Reactome: R-HSA-5620912)
• Cell cycle (KEGG: hsa04110)
Protein Summary
MAPRE3 (EB3) is a 281-amino acid protein that localizes to the plus ends of microtubules. It contains a calponin homology (CH) domain at the N-terminus for microtubule binding and an EB1-like C-terminal domain for dimerization and interaction with other proteins. EB3 regulates microtubule dynamics by promoting growth and preventing catastrophe. It is essential for ciliogenesis, neuronal migration, and cell polarity. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPRE3 Knockout HEK293 Cell Line | EDJ-KQ7753 | Human | 22924 | Details Get a Quote |
| MAPRE3 Knockout A-549 Cell Line | EDJ-KQ33194 | Human | 22924 | Details Get a Quote |
| MAPRE3 Knockout HeLa Cell Line | EDJ-KQ33196 | Human | 22924 | Details Get a Quote |
| MAPRE3 Knockout HCT 116 Cell Line | EDJ-KQ31875 | Human | 22924 | Details Get a Quote |
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