Basic Information

Symbol
USH1G
RNA class
mRNA
Alias
USH1 Protein Network Component Sans ANKS4A Sans Scaffold Protein Containing Ankyrin Repeats And SAM Domain Usher Syndrome 1G (Autosomal Recessive) Pre-MRNA Splicing Regulator USH1G Usher Syndrome Type-1G Protein FLJ33924 SANS
Location (GRCh38)
17:74916083-74923256
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_173477.5
Sequence length
3558.0 nt
GC content
0.6324

Transcripts

ID Sequence Length GC content
NM_001282489.3 NCBI
AGAUGUCUUGGUAGUCGCGGCUCUGGCGCUCCGCACCCUCCGUCUGCGG… 3505 nt 0.6325
NM_173477.5 NCBI
AGAUGUCUUGGUAGUCGCGGCUCUGGCGCUCCGCACCCUCCGUCUGCGG… 3558 nt 0.6324
Summary

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Forensic Context

A study in mice demonstrated that gastrulation-stage alcohol exposure induced craniofacial malformations at similar rates and severity in both sexes, though growth deficits were more prevalent in females [Boschen et al. DOI:10.1002/Bdr2.2292].