CHAMP1 Gene Summary [Human]
This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | CHAMP1 |
| Official Name | chromosome alignment maintaining phosphoprotein 1 [Source:HGNC Symbol;Acc:HGNC:20311] |
| Ensembl ID | ENSG00000198824 |
| Bio databases IDs | |
| Aliases | chromosome alignment maintaining phosphoprotein 1, chromosome alignment-maintaining phosphoprotein |
| Synonyms | AA675043, C13orf8, CAMP, CHAMP, chromosome alignment maintaining phosphoprotein 1, D8Ertd457e, D8Ertd569e, mKIAA1802, MRD40, NEDHILD, RGD1311283, Zfp828, ZNF828 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHAMP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MAPK-interacting and spindle-stabilising protein-like
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- autosomal dominant mental retardation type 40
- hereditary disorder
- mental retardation
- neurodevelopmental disorder
- intellectual disability with severe speech impairment
- complex neurodevelopmental disorder
- developmental disorder
role in cell
- binding in
- initial DNA end resection in
- attachment
- homologous recombination repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- spindle apparatus
- chromosome
- nucleoplasm
- nuclear bodies
- kinetochores
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHAMP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization to microtubule
- protein localization to kinetochore
- sister chromatid biorientation
- attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- nuclear body
- cytoplasm
- spindle
- kinetochore
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding