Ush1g USH1 protein network component sans [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ush1gprovided by RGD
Official Full Name: USH1 protein network component sansprovided by RGD
Primary source: RGD:1304551
See related: AllianceGenome:RGD:1304551
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable identical protein binding activity and spectrin binding activity. Predicted to be involved in equilibrioception; photoreceptor cell maintenance; and sensory perception of light stimulus. Predicted to act upstream of or within inner ear morphogenesis; inner ear receptor cell stereocilium organization; and sensory perception of sound. Predicted to be located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and photoreceptor inner segment. Human ortholog(s) of this gene implicated in Usher syndrome type 1G. Orthologous to human USH1G (USH1 protein network component sans). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Brain (RPKM 2.6), Muscle (RPKM 1.3) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q32.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (101055923..101062753, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (100559721..100563590, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (103866566..103873416, complement)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables spectrin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in equilibrioception	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inner ear morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inner ear receptor cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in regulation of clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of light stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Cajal body	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary base	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in photoreceptor cell cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pre-mRNA splicing regulator USH1G

Names: Usher syndrome 1G (autosomal recessive); Usher syndrome 1G homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001105850.1 → NP_001099320.1 pre-mRNA splicing regulator USH1G

See identical proteins and their annotated locations for NP_001099320.1

Status: PROVISIONAL

Source sequence(s)

CH473948

UniProtKB/TrEMBL

A6HKL6, D3ZTY5

Conserved Domains (5) summary

cd09586
Location:388 → 453

SAM_USH1G; SAM domain of USH1G

smart00454
Location:395 → 448

SAM; Sterile alpha motif

cd00204
Location:6 → 117

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:6 → 91

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:31 → 62

ANK; ANK repeat [structural motif]