USH1G report

I. Expression across cell types

Insufficient scRNA-seq data for expression of USH1G at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of USH1G at tissue level.

III. Associated gene sets

GO_0007605Biological processsensory perception of sound
GO_0045494Biological processphotoreceptor cell maintenance
GO_0050957Biological processequilibrioception
GO_0060122Biological processinner ear receptor cell stereocilium organization
GO_2000369Biological processregulation of clathrin-dependent endocytosis
GO_0050953Biological processsensory perception of light stimulus
GO_0042472Biological processinner ear morphogenesis
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0005886Cellular componentplasma membrane
GO_0016607Cellular componentnuclear speck
GO_0005813Cellular componentcentrosome
GO_0001917Cellular componentphotoreceptor inner segment
GO_0015629Cellular componentactin cytoskeleton
GO_0005829Cellular componentcytosol
GO_0097546Cellular componentciliary base
GO_0015030Cellular componentCajal body
GO_0036064Cellular componentciliary basal body
GO_0097733Cellular componentphotoreceptor cell cilium
GO_0030507Molecular functionspectrin binding
GO_0042802Molecular functionidentical protein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameUSH1G
Protein namepre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein)
Usher syndrome type 1G protein isoform 2
USH1 protein network component sans
SynonymsSANS
DescriptionFUNCTION: 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 . May also participate in recycling of snRNPs back to Cajal bodies during splicing . Plays a role in regulating MAGI2-mediated endocytosis . 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. .

AccessionsENST00000614341.5
A0A385DPC5
Q495M9
J3KSN5
ENST00000579243.1