TOGARAM1

Chr 14q21.2

TOG array regulator of axonemal microtubules 1

Aliases:: Crescerin-1, crescerin
MANE:: ENST00000361462.7

OMIM: 617618 ↗NCBI: 23116 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TOGARAM1 · Q9Y4F4

v62025-08-01

Predicted Aligned Error matrix for TOGARAM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.6/ 100

Low

1,720 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)19%
Low(50–70)7%
Very low(< 50)45%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Joubert syndrome 37
0.76
Joubert syndrome
0.61
ciliopathy
0.44
cholelithiasis
0.26
spondylolisthesis
0.22
Alkalosis
0.20
Brown syndrome
0.15
Joubert syndrome with orofaciodigital defect
0.05
anophthalmia plus syndrome
0.05
Isolated anophthalmia - microphthalmia
0.05

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

Protein function (UniProt)

TOG array regulator of axonemal microtubules protein 1

Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity)