CHAMP1: Chromosome Alignment Maintaining Phosphoprotein 1
A key regulator of chromosome segregation and neurodevelopment, associated with intellectual disability and developmental delay.
Gene Information Card
| Symbol | CHAMP1 |
|---|---|
| Full Name | Chromosome Alignment Maintaining Phosphoprotein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 283489 ncbi.nlm.nih.gov/gene/283489 |
| Ensembl ID | ENSG00000198824 |
| UniProt ID | Q96JM3 |
| OMIM ID | 616327 |
| HGNC ID | 28114 |
| Aliases | C13orf8, CHAMP, CAMP, C13orf8, DKFZp686B10109 |
Description
CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1) encodes a protein that localizes to kinetochores and is essential for proper chromosome alignment and segregation during mitosis. It interacts with the spindle assembly checkpoint (SAC) and is required for faithful chromosome segregation. Mutations in CHAMP1 are associated with autosomal dominant intellectual disability, developmental delay, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 40 (MRD40) | Loss-of-function mutations disrupt chromosome alignment, leading to aneuploidy and impaired neurodevelopment. | ClinVar, OMIM |
| Developmental delay with or without autism | Haploinsufficiency of CHAMP1 affects synaptic function and neuronal migration. | ClinVar, PubMed |
| Microcephaly | Disrupted mitotic fidelity in neural progenitor cells reduces brain size. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebral cortex) | 8.5 | Low |
| Lymph node | 6.3 | Low |
| Bone marrow | 5.1 | Low |
| Spleen | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.2 | Myeloid lineage |
| HeLa (cervical carcinoma) | 8.9 | Epithelial |
| HEK293 (embryonic kidney) | 7.5 | Transformed |
| SH-SY5Y (neuroblastoma) | 6.1 | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57*) | Nonsense | De novo | Loss of function; truncation |
| c.502_503del (p.Leu168Valfs*5) | Frameshift | De novo | Loss of function; premature stop |
| c.1045C>T (p.Arg349*) | Nonsense | De novo | Loss of function; truncation |
| c.1234G>A (p.Gly412Arg) | Missense | Unknown | Likely damaging; disrupts kinetochore binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency are the primary mechanism in MRD40.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; mechanism is likely haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000775 - chromosome | • centromeric region |
| • GO:0000776 - kinetochore | • GO:0007059 - chromosome segregation |
| • GO:0051301 - cell division | • GO:0005819 - spindle |
Pathways
• Chromosome segregation (Reactome: R-HSA-2500257)
• Mitotic spindle checkpoint (Reactome: R-HSA-69618)
Protein Summary
The CHAMP1 protein is a 812-amino acid phosphoprotein that localizes to kinetochores during mitosis. It contains a C-terminal domain that binds to the spindle assembly checkpoint protein MAD2L1, ensuring proper chromosome alignment. Loss of CHAMP1 leads to misaligned chromosomes, aneuploidy, and mitotic delay. In neurons, CHAMP1 is involved in dendritic spine maturation and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHAMP1 Knockout HEK293 Cell Line | EDJ-KQ12904 | Human | 283489 | Details Get a Quote |
| CHAMP1 Knockout A-549 Cell Line | EDJ-KQ42090 | Human | 283489 | Details Get a Quote |
| CHAMP1 Knockout HCT 116 Cell Line | EDJ-KQ42091 | Human | 283489 | Details Get a Quote |
| CHAMP1 Knockout HeLa Cell Line | EDJ-KQ42092 | Human | 283489 | Details Get a Quote |
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