USH1G

USH1G
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2L7T, 3K1R, 3PVL
Identifiers
Aliases	USH1G, ANKS4A, SANS, USH1 protein network component sans
External IDs	OMIM: 607696; MGI: 2450757; HomoloGene: 56113; GeneCards: USH1G; OMA:USH1G - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	74,923,256 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	115,212,867 bp
RNA expression pattern
	Top expressed in
	testicle; ; skin of leg; ; right adrenal cortex; ; left adrenal cortex; ; skin of abdomen; ; granulocyte; ; smooth muscle tissue; ; body of uterus; ; left testis; ; right testis;
	Top expressed in
	olfactory bulb; ; epithelium of macula of saccule of membranous labyrinth; ; embryo; ; organ of Corti; ; cochlea; ; cerebellar cortex; ; ovary; ; lip; ; muscle of thigh; ; Cortex of frontal lobe;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	spectrin binding; protein binding; protein homodimerization activity; identical protein binding;
Cellular component	photoreceptor inner segment; cytoplasm; ciliary basal body; cytosol; plasma membrane; cytoskeleton; membrane; photoreceptor connecting cilium; actin cytoskeleton;
Biological process	inner ear receptor cell differentiation; photoreceptor cell maintenance; hearing; inner ear morphogenesis; inner ear receptor cell stereocilium organization; sensory perception of light stimulus; equilibrioception;
	Sources:Amigo / QuickGO
Orthologs
	124590
	16470
	ENSG00000182040
	ENSMUSG00000045288
	Q495M9
	Q80T11
	NM_001282489; NM_173477
	NM_176847
	NP_001269418; NP_775748
	NP_789817
	Wikidata
View/Edit Human	View/Edit Mouse

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.^[5]^[6]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182040 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045288 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (Feb 2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Hum Mol Genet. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.
^ Cite error: The named reference entrez was invoked but never defined (see the help page).

External links

GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I

References

External links

Further reading