MICALL1 Gene - Molecule Interacting with Rab13
Gene encoding a Rab13-interacting protein involved in cell junction assembly and vesicle trafficking
Gene Information Card
| Symbol | MICALL1 |
|---|---|
| Full Name | Molecule interacting with Rab13 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 85377 ncbi.nlm.nih.gov/gene/85377 |
| Ensembl ID | ENSG00000100197 |
| UniProt ID | Q8N3F8 |
| OMIM ID | 615607 |
| HGNC ID | 24698 |
| Aliases | MICAL-L1, MICAL-L, MICAL like 1 |
Description
MICALL1 encodes a protein that interacts with the small GTPase Rab13 and is involved in the regulation of tight junction assembly, cell polarity, and vesicle trafficking. The protein contains a calponin homology domain and a coiled-coil region, and localizes to recycling endosomes and cell junctions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect cell junction integrity and migration | COSMIC; literature |
| No specific Mendelian disease reported | N/A | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown; rare variant |
| c.567_568del (p.Leu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of Rab13 interaction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein transport (GO:0015031) |
| • cell junction (GO:0030054) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Rab13-mediated vesicle trafficking
• Tight junction assembly
Protein Summary
MICALL1 is a 1009-amino acid protein that contains a calponin homology domain and a coiled-coil region. It localizes to recycling endosomes and cell junctions, where it interacts with Rab13 to regulate the trafficking of junctional proteins and maintain cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MICALL1 Knockout HEK293 Cell Line | EDJ-KQ10347 | Human | 85377 | Details Get a Quote |
| MICALL1 Knockout A-549 Cell Line | EDJ-KQ37656 | Human | 85377 | Details Get a Quote |
| MICALL1 Knockout HCT 116 Cell Line | EDJ-KQ37657 | Human | 85377 | Details Get a Quote |
| MICALL1 Knockout HeLa Cell Line | EDJ-KQ37658 | Human | 85377 | Details Get a Quote |
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