AlphaFold predicted structure
AP1S1 · P61966
Mean pLDDT
94.6/ 100
Very high
158 residues
Confidence breakdown
- Very high(≥ 90)90%
- Confident(70–90)7%
- Low(50–70)3%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
AP1S1
Chr 7q22.1adaptor related protein complex 1 subunit sigma 1
- Aliases:
- AP19, SIGMA1A, WUGSC:H_DJ0747G18.2
- MANE:
- ENST00000337619.11
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalIntestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalVici Syndrome and other autophagy disorders
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalCholestasis
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
MEDNIK syndrome
0.76HIV infectious disease
0.50neurodegenerative disease
0.34hereditary disease
0.34Abnormality of the skeletal system
0.24smoking initiation
0.17attention deficit-hyperactivity disorder
0.15substance abuse
0.15obesity disorder
0.15cholelithiasis
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
AP-1 complex subunit sigma-1A
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules