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) [1] Band 17q25.1 Start 74,916,083 bp [1] End 74,923,256 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E2|11 80.84 cM Start 115,206,018 bp [2] End 115,212,867 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 124590 16470 Ensembl ENSG00000182040 ENSMUSG00000045288 UniProt Q495M9 Q80T11 RefSeq (mRNA) NM_001282489 NM_173477 NM_176847 RefSeq (protein) NP_001269418 NP_775748 NP_789817 Location (UCSC) Chr 17: 74.92 – 74.92 Mb Chr 11: 115.21 – 115.21 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000182040 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)".

Further reading

• Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome". Clin. Genet. 63 (6): 431–44. doi:10.1034/j.1399-0004.2003.00109.x. PMID   12786748. S2CID   21024265.
• Ahmed ZM, Riazuddin S, Bernstein SL, et al. (2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". Am. J. Hum. Genet. 69 (1): 25–34. doi:10.1086/321277. PMC   1226045 . PMID   11398101.
• Mustapha M, Chouery E, Torchard-Pagnez D, et al. (2002). "A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25". Hum. Genet. 110 (4): 348–50. doi:10.1007/s00439-002-0690-x. PMID   11941484. S2CID   26187816.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ouyang XM, Yan D, Du LL, et al. (2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population". Hum. Genet. 116 (4): 292–9. doi:10.1007/s00439-004-1227-2. PMID   15660226. S2CID   22812718.
• Kalay E, de Brouwer AP, Caylan R, et al. (2006). "A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome". J. Mol. Med. 83 (12): 1025–32. doi:10.1007/s00109-005-0719-4. PMID   16283141. S2CID   41415771.

External links

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