AlphaFold predicted structure
NACC1 · Q96RE7
Mean pLDDT
63.1/ 100
Low
527 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)16%
- Low(50–70)9%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NACC1
Chr 19p13.13nucleus accumbens associated 1
- Aliases:
- NAC1, NAC-1, BEND8, BTBD30
- MANE:
- ENST00000292431.5
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
0.71hereditary disease
0.34placental retention
0.19alcohol drinking
0.18urolithiasis
0.18neurodevelopmental disorder
0.12neoplasm
0.11microcephaly
0.11melanoma
0.10ovarian carcinoma
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Nucleus accumbens-associated protein 1
Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines