EFHC1

Chr 6p12.2

EF-hand domain containing 1

Aliases:: FLJ10466, RIB72, POC9
MANE:: ENST00000371068.11

OMIM: 608815 ↗NCBI: 114327 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

EFHC1 · Q5JVL4

v62025-08-01

Predicted Aligned Error matrix for EFHC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

640 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)45%
Low(50–70)11%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
Unknown

Disease associations (Open Targets)

juvenile myoclonic epilepsy
0.76
Abnormality of the skeletal system
0.40
Generalized non-motor (absence) seizure
0.28
chronic obstructive pulmonary disease
0.28
lower respiratory tract disorder
0.28
placental abruption
0.26
ovarian dysfunction
0.25
Typical absence seizure
0.19
essential tremor
0.10
idiopathic generalized epilepsy
0.10

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

Protein function (UniProt)

EF-hand domain-containing protein 1

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal migration during cortical development (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581, PubMed:19734894, PubMed:22926142, PubMed:28370826)

Curated MONDO disease pages that list EFHC1 among their top associated genes.

early-onset autosomal dominant Alzheimer diseaseRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with EFHC1