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Usher syndrome type-1G protein; scaffold protein containing ankyrin repeats & SAM domain (USH1G, SANS)
Function:
1) development & maintenance of the stereocilia bundles (putative)
2) anchoring/scaffolding protein in hair cells (putative)
3) functional network formed by USH1C, USH1G, CDH23 & MYO7A mediates mechanotransduction in cochlear hair cells required for normal hearing
4) associates with USH1C by binding to its first PDZ domain
5) interacts with PDZD7
Structure:
- contains 3 ANK repeats
- contains 1 SAM (sterile alpha motif) domain
Compartment:
- cytoplasm, cytoskeleton
- cell membrane
- detected at the tip of cochlear hair cell stereocilia
- recruited to the cell membrane via interaction with CDH23
Expression:
- expressed in vestibule of the inner ear, eye, small intestine
Pathology:
- defects in USH1G are the cause of Usher syndrome type 1G
Related
Usher syndrome
Usher syndrome type IG
General
ankyrin repeat domain protein (ANKRD)
scaffold protein
sterile alpha motif domain-containing protein (SAMD)
Properties
SIZE: MW = 51 kD
entity length = 461 aa
COMPARTMENT: synaptic membrane
CELL: neuron
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 31-60
ankyrin repeat
NAME: ankyrin repeat
SITE: 64-93
ankyrin repeat
NAME: ankyrin repeat
SITE: 97-126
sterile alpha motif
NAME: sterile alpha motif
SITE: 385-447
MOTIF: arginine-rich region {444-447}
MOTIF: arginine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 607696
UniProt Q495M9
PFAM correlations
Entrez Gene 124590
Kegg hsa:124590
References
- UniProt :accession Q495M9
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/USH1G