CHAMP1

Chr 13q34

chromosome alignment maintaining phosphoprotein 1

Aliases:: CAMP, CHAMP
MANE:: ENST00000361283.4

OMIM: 616327 ↗NCBI: 283489 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHAMP1 · Q96JM3

v62025-08-01

Predicted Aligned Error matrix for CHAMP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.6/ 100

Very low

812 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)18%
Low(50–70)7%
Very low(< 50)75%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual disability, autosomal dominant 40
0.75
neurodegenerative disease
0.54
Intellectual disability
0.52
blepharophimosis, ptosis, and epicanthus inversus syndrome
0.52
hereditary disease
0.52
neurodevelopmental disorder
0.44
complex neurodevelopmental disorder
0.40
retinal disorder
0.33
hypertensive disorder
0.21
Obesity
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Chromosome alignment-maintaining phosphoprotein 1

Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore