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]

This gene encodes a protein that contains three ankyrin repeat 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).^[6]

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.
^ ^a ^b "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)".

External links

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

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182040 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000045288 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12588794-5] 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.

[entrez-6] "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)".

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USH1G

References

Further reading

External links