CAMSAP1

Chr 9q34.3

calmodulin regulated spectrin associated protein 1

Aliases:: FLJ31228, DKFZp434F195
MANE:: ENST00000389532.9

OMIM: 613774 ↗NCBI: 157922 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CAMSAP1 · Q5T5Y3

v62025-08-01

Predicted Aligned Error matrix for CAMSAP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.3/ 100

Low

1,602 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)16%
Low(50–70)3%
Very low(< 50)62%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cortical dysplasia, complex, with other brain malformations 12
0.67
neurodegenerative disease
0.51
lagophthalmos
0.25
vascular disorder
0.25
sialolithiasis
0.25
intestinal disorder
0.25
preeclampsia
0.24
hereditary disease
0.19
Abnormality of neuronal migration
0.19
cancer
0.06

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

Protein function (UniProt)

Calmodulin-regulated spectrin-associated protein 1

Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850)