USH1C information

USH1C
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3K1R, 2KBS, 2LSR, 2KBQ, 2KBR, 1X5N, 5F3X
Identifiers
Aliases	USH1C, AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, USH1 protein network component harmonin
External IDs	OMIM: 605242 MGI: 1919338 HomoloGene: 77476 GeneCards: USH1C
Gene location (Human)
Chr.	Chromosome 11 (human)
End	17,544,416 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	45,887,927 bp
RNA expression pattern
	Top expressed in
	rectum; ; duodenum; ; optic nerve; ; gallbladder; ; kidney; ; jejunal mucosa; ; pancreatic ductal cell; ; islet of Langerhans; ; substantia nigra; ; corpus callosum;
	Top expressed in
	utricle; ; intestinal villus; ; saccule; ; crypt of lieberkuhn of small intestine; ; duodenum; ; ileum; ; jejunum; ; colon; ; proximal tubule; ; left colon;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	spectrin binding; actin filament binding; protein binding;
Cellular component	cytoplasm; apical part of cell; brush border; cytoskeleton; cell projection; microvillus; cytosol; photoreceptor outer segment; photoreceptor inner segment; plasma membrane; stereocilium; synapse; stereocilia ankle link; stereocilia ankle link complex; photoreceptor connecting cilium; stereocilium tip;
Biological process	sensory perception of light stimulus; sensory perception of sound; G2/M transition of mitotic cell cycle; equilibrioception; photoreceptor cell maintenance; regulation of microvillus length; cell differentiation; parallel actin filament bundle assembly; inner ear morphogenesis; inner ear auditory receptor cell differentiation; actin filament bundle assembly; inner ear receptor cell stereocilium organization; protein localization to microvillus; brush border assembly; retinal cone cell development;
	Sources:Amigo / QuickGO
Orthologs
	10083
	72088
	ENSG00000006611
	ENSMUSG00000030838
	Q9Y6N9
	Q9ES64
	NM_001297764; NM_005709; NM_153676
	NM_001163733; NM_001291182; NM_023649; NM_153677
	NP_001284693; NP_005700; NP_710142
	NP_001157205; NP_001278111; NP_076138; NP_710143
	Wikidata
View/Edit Human	View/Edit Mouse

Harmonin is a protein that in humans is encoded by the USH1C gene.^[5]^[6]^[7] It is expressed in sensory cells of the inner ear and retina, where it plays a role in hearing, balance, and vision.^[5]^[6]^[8]^[9]^[10] Mutations at the USH1C locus cause Usher syndrome type 1c and nonsyndromic sensorineural deafness.^[5]^[6]^[8]^[11]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000006611 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030838 – 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.
^ ^a ^b ^c Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, et al. (September 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nature Genetics. 26 (1): 51–55. doi:10.1038/79171. PMID 10973247. S2CID 9383331.
^ ^a ^b ^c Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, et al. (June 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Human Genetics. 110 (6): 527–531. doi:10.1007/s00439-002-0732-4. PMID 12107438. S2CID 24276167.
^ "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)".
^ ^a ^b Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, et al. (September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene". Nature Genetics. 26 (1): 56–60. doi:10.1038/79178. PMID 10973248. S2CID 2237489.
^ Gregory FD, Bryan KE, Pangršič T, Calin-Jageman IE, Moser T, Lee A (August 2011). "Harmonin inhibits presynaptic Cav1.3 Ca²⁺ channels in mouse inner hair cells". Nature Neuroscience. 14 (9): 1109–1111. doi:10.1038/nn.2895. PMC 3164920. PMID 21822269.
^ Gregory FD, Pangrsic T, Calin-Jageman IE, Moser T, Lee A (July 2013). "Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells". The Journal of Physiology. 591 (13): 3253–3269. doi:10.1113/jphysiol.2013.254367. PMC 3717226. PMID 23613530.
^ Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C (2010-12-23). "An update on the genetics of usher syndrome". Journal of Ophthalmology. 2011: 417217. doi:10.1155/2011/417217. PMC 3017948. PMID 21234346.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000006611 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030838 – 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.

[pmid10973247-5] Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, et al. (September 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nature Genetics. 26 (1): 51–55. doi:10.1038/79171. PMID 10973247. S2CID 9383331.

[pmid12107438-6] Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, et al. (June 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Human Genetics. 110 (6): 527–531. doi:10.1007/s00439-002-0732-4. PMID 12107438. S2CID 24276167.

[7] "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)".

[:0-8] Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, et al. (September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene". Nature Genetics. 26 (1): 56–60. doi:10.1038/79178. PMID 10973248. S2CID 2237489.

[:1-9] Gregory FD, Bryan KE, Pangršič T, Calin-Jageman IE, Moser T, Lee A (August 2011). "Harmonin inhibits presynaptic Cav1.3 Ca²⁺ channels in mouse inner hair cells". Nature Neuroscience. 14 (9): 1109–1111. doi:10.1038/nn.2895. PMC 3164920. PMID 21822269.

[:2-10] Gregory FD, Pangrsic T, Calin-Jageman IE, Moser T, Lee A (July 2013). "Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells". The Journal of Physiology. 591 (13): 3253–3269. doi:10.1113/jphysiol.2013.254367. PMC 3717226. PMID 23613530.

[:3-11] Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C (2010-12-23). "An update on the genetics of usher syndrome". Journal of Ophthalmology. 2011: 417217. doi:10.1155/2011/417217. PMC 3017948. PMID 21234346.

USH1C information

and 15 Related for: USH1C information

USH1C

Usher syndrome

Usher 1C

Human genome

Chromosome 11

List of genetic disorders

EML1

Nonsyndromic deafness

CDH23

PDZ domain

Nuclear mitochondrial DNA segment

Dedicator of cytokinesis protein 4

Sodium bicarbonate cotransporter 3

List of OMIM disorder codes

USH1G