CHAMP1

Also known as C13orf8, CAMP, CHAMP, ZNF828, MRD40, chromosome alignment maintaining phosphoprotein 1

Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) also known as zinc finger protein 828 (ZNF828) is a protein that in humans is encoded by the CHAMP1 gene. CHAMP1 is a key component of a protein complex that has a role in facilitating homology-directed repair of DNA.

In the Vinony graph

Within Vinony's link graph, CHAMP1 is referenced by 4 other articles, and connects out to PubMed, human chromosome 13 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 13.

Its subject is documented across 6 Wikipedia language editions.

Gene data

CHAMP1

Name: chromosome alignment maintaining phosphoprotein 1
Type: protein-coding
Position: 114,314,482–114,337,626 (+)
Aliases: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828
Ensembl: ENSG00000198824
RefSeq RNA: NM_001164144.3, NM_001164145.3, NM_032436.4, XM_047430277.1, XM_054374469.1
RefSeq protein: NP_001157616.1, NP_001157617.1, NP_115812.1, XP_047286233.1, XP_054230444.1

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].

Gene Ontology

Biological process

sister chromatid biorientation sister chromatid biorientation protein localization to kinetochore protein localization to kinetochore protein localization to microtubule protein localization to microtubule attachment of mitotic spindle microtubules to kinetochore attachment of mitotic spindle microtubules to kinetochore

Molecular function

protein binding

Cellular component

kinetochore condensed chromosome nucleus nucleus nucleoplasm nucleoplasm chromosome spindle

via MyGene.info

Gene · Ensembl

chromosome alignment maintaining phosphoprotein 1

Symbol: CHAMP1
Biotype: Protein coding
Organism: Homo sapiens
Location: 13:114,314,482-114,337,626
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 18780
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/283489
chromosome: human chromosome 13
genomic start: 114314482
genomic end: 114337626
cytogenetic location: 13q34

Sources (4)

via Wikidata · CC0

~2 min read

Encyclopedic overview

4 sections

Contents

Clinical Significance
References
External links
Further reading

== Clinical Significance == Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment. This condition, often referred to as CHAMP1-related neurodevelopmental disorder, arises from a pathogenic variant in one of the two copies of the gene. The majority of cases result from de novo mutations, meaning they are not inherited from the parents.

Excerpted from Wikipedia’s “CHAMP1” article, available under the CC BY-SA 4.0 licence.