AlphaFold predicted structure
USH1G · Q495M9
Mean pLDDT
68.3/ 100
Low
461 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)18%
- Low(50–70)10%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
USH1G
Chr 17q25.1USH1 protein network component sans
- Aliases:
- Sans, FLJ33924, ANKS4A
- MANE:
- ENST00000614341.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalThoracic dystrophies
Disease associations (Open Targets)
Usher syndrome
0.74Usher syndrome type 1
0.72deafness
0.49Hearing impairment
0.43hearing loss disorder
0.37eye disorder
0.37hearing loss, autosomal recessive
0.35Rare genetic deafness
0.27hereditary disease
0.19Retinal dystrophy
0.17
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
pre-mRNA splicing regulator USH1G
Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904). May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904). Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321). Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing
Diseases associated with USH1G
Curated MONDO disease pages that list USH1G among their top associated genes.