ATXN7L3

Chr 17q21.31

ataxin 7 like 3

Aliases:: DKFZp761G2113
MANE:: ENST00000587097.6

OMIM: 619010 ↗NCBI: 56970 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ATXN7L3 · Q14CW9

v62025-08-01

Predicted Aligned Error matrix for ATXN7L3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

347 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)28%
Low(50–70)26%
Very low(< 50)32%

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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.37
hepatocellular carcinoma
0.08
retinitis pigmentosa
0.07
Cone rod dystrophy
0.07
Familial exudative vitreoretinopathy
0.07
Leber congenital amaurosis
0.06
sleep apnea syndrome
0.06
Bardet-Biedl syndrome
0.06
central areolar choroidal dystrophy
0.06
oculocutaneous albinism type 2
0.06

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

Protein function (UniProt)

Ataxin-7-like protein 3

Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (PubMed:18206972, PubMed:21746879). The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583)