MAD2L1BP
MAD2L1 Binding Protein
Gene Information Card
| Symbol | MAD2L1BP |
|---|---|
| Full Name | MAD2L1 Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 9587 ncbi.nlm.nih.gov/gene/9587 |
| Ensembl ID | ENSG00000101126 |
| UniProt ID | Q9Y3D4 |
| OMIM ID | 610033 |
| HGNC ID | 16256 |
| Aliases | C20orf172, MAD2L1BP, MAD2L1BP1 |
Description
MAD2L1BP encodes a protein that binds to MAD2L1, a component of the mitotic spindle assembly checkpoint (SAC). The encoded protein is involved in regulating the cell cycle and ensuring proper chromosome segregation during mitosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of mitotic checkpoint; altered MAD2L1BP expression may contribute to aneuploidy | COSMIC; literature |
| Colorectal cancer | Overexpression associated with poor prognosis | COSMIC; literature |
| Breast cancer | Altered expression linked to tumor progression | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Bone marrow | 8.3 | Low |
| Brain | 4.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.0 | Cervical cancer |
| HEK293 | 9.5 | Embryonic kidney |
| MCF7 | 7.8 | Breast cancer |
| HCT116 | 6.2 | Colorectal cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
| c.200G>A | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential disruption of MAD2L1 binding
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • protein binding (GO:0005515) |
| • chromosome segregation (GO:0007059) | • spindle checkpoint (GO:0031577) |
Pathways
• Cell Cycle
• Mitotic
• Mitotic Spindle Checkpoint
Protein Summary
MAD2L1BP is a 224-amino acid protein that interacts with MAD2L1, a key component of the mitotic checkpoint complex. It localizes to kinetochores and is involved in delaying anaphase until all chromosomes are properly attached to the spindle. The protein is expressed in multiple tissues, with highest levels in testis and lymph node.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAD2L1BP Knockout HEK293 Cell Line | EDJ-KQ5991 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout A-549 Cell Line | EDJ-KQ30930 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout HCT 116 Cell Line | EDJ-KQ30932 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout HeLa Cell Line | EDJ-KQ30933 | Human | 9587 | Details Get a Quote |
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