CHAMP1 Gene

HGNC Family	Zinc fingers
Name	chromosome alignment maintaining phosphoprotein 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHAMP1 encodes a zinc‐finger protein that plays a critical role in ensuring proper chromosome segregation during mitosis by mediating kinetochore–microtubule attachment and maintaining proper chromosome alignment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition to this canonical mitotic function, CHAMP1 is also involved in the regulation of DNA double‐strand break repair; specifically, it promotes homologous recombination by facilitating DNA end resection and the recruitment of repair factors such as BRCA1, in cooperation with partners like POGZ."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Functional studies further indicate that CHAMP1 contributes to cell survival during prolonged mitotic arrest by sustaining the expression and stability of anti‐apoptotic proteins (for example, Mcl-1), thereby delaying mitotic cell death and mitigating mitotic slippage under antimitotic drug treatment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, disruption of CHAMP1 function—through de novo truncating or frameshift mutations that impair its C-terminal zinc finger domains essential for proper chromosomal localization and interaction with key partners (such as POGZ and HP1)—is causally linked to neurodevelopmental disorders characterized by intellectual disability, severe speech and motor delays, and dysmorphic features."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Maja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2015.08.003"}], "href": "https://doi.org/10.1016/j.ajhg.2015.08.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26340335"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26340335"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kodai Hara, Shota Taharazako, Masanori Ikeda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamic feature of mitotic arrest deficient 2-like protein 2 (MAD2L2) and structural basis for its interaction with chromosome alignment-maintaining phosphoprotein (CAMP)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M117.804237"}], "href": "https://doi.org/10.1074/jbc.M117.804237"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28887307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28887307"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hiroki Fujita, Masanori Ikeda, Ayako Ui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41388-022-02299-6"}], "href": "https://doi.org/10.1038/s41388-022-02299-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35393543"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35393543"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Maho Hino, Kenji Iemura, Masanori Ikeda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cas.15018"}], "href": "https://doi.org/10.1111/cas.15018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34107118"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34107118"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22952"}], "href": "https://doi.org/10.1002/humu.22952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26751395"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26751395"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ming-Mei Wang, Deng-Na Zhu, San-Song Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhongguo Dang Dai Er Ke Za Zhi (2020)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33059813"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33059813"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Akemi J Tanaka, Megan T Cho, Kyle Retterer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cold Spring Harb Mol Case Stud (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/mcs.a000661"}], "href": "https://doi.org/10.1101/mcs.a000661"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27148580"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27148580"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yan Dong, Xiaoyi Shi, Kaixian Du, et al. "}, {"type": "b", "children": [{"type": "t", "text": "First Chinese patient with mental retardation-40 due to a "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "de novo"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " CHAMP1 frameshift mutation: Case report and literature review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Ther Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/etm.2021.10339"}], "href": "https://doi.org/10.3892/etm.2021.10339"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34257719"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34257719"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intellectual disability and microcephaly associated with a novel CHAMP1 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genome Var (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41439-021-00165-7"}], "href": "https://doi.org/10.1038/s41439-021-00165-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34404773"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34404773"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Martina Marangoni, Guillaume Smits, Gilles Ceysens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gim.2021.09.016"}], "href": "https://doi.org/10.1016/j.gim.2021.09.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34906519"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34906519"}]}]}]}
Synonyms	ZNF828, CAMP, MRD40, C13ORF8
Proteins	CHAP1_HUMAN
NCBI Gene ID	283489
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHAMP1 has 6,209 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 111 datasets.

Click the + buttons to view associations for CHAMP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CHAMP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHAMP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CHAMP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CHAMP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CHAMP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHAMP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHAMP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHAMP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CHAMP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHAMP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CHAMP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CHAMP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CHAMP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHAMP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHAMP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CHAMP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CHAMP1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of CHAMP1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHAMP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHAMP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CHAMP1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHAMP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CHAMP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHAMP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHAMP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHAMP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHAMP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CHAMP1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHAMP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CHAMP1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CHAMP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CHAMP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHAMP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHAMP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHAMP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHAMP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CHAMP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CHAMP1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CHAMP1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing CHAMP1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of CHAMP1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.