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USH1C Usher syndrome 1C (autosomal recessive, severe) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_153676 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005252725 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006718119 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

Gene Symbol USH1C
Entrez Gene ID 10083
Full Name Usher syndrome 1C (autosomal recessive, severe)
Synonyms AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
General protein information
Preferred Names
harmonin
Names
harmonin
antigen NY-CO-38/NY-CO-37
usher syndrome type-1C protein
renal carcinoma antigen NY-REN-3
autoimmune enteropathy-related antigen AIE-75
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p14.3

Summary This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].
Disorder

MIM: 605242

Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive

mRNA Protein Product Sequence Price Select
NM_005709, 225690577 NP_005700, 71480164 harmonin isoform a ORF Sequence $550.00
NM_153676, 225703075 NP_710142, 41281808 harmonin isoform b3 ORF Sequence $750.00
XM_005252725, 578820266 XP_005252782, 530394934 harmonin isoform X1 ORF Sequence $550.00
XM_006718119, 578820264 XP_006718182, 578820265 harmonin isoform X2 ORF Sequence $550.00
Homo sapiens (human)USH1CNP_710142.1
Pan troglodytes (chimpanzee)USH1CXP_003951893.1
Canis lupus familiaris (dog)USH1CXP_005633777.1
Bos taurus (cattle)USH1CNP_001030459.1
Mus musculus (house mouse)Ush1cNP_710143.2
Gallus gallus (chicken)USH1CXP_421006.4
Danio rerio (zebrafish)ush1cNP_001035018.1
Xenopus (Silurana) tropicalis (western clawed frog)ush1cNP_001096522.1
Process
IDNameEvidence
GO:0000086G2/M transition of mitotic cell cycleIMP
GO:0007605sensory perception of soundIMP
GO:0030046parallel actin filament bundle assemblyIEA
GO:0042472inner ear morphogenesisIEA
GO:0042491auditory receptor cell differentiationIEA
GO:0045494photoreceptor cell maintenanceIMP
GO:0050953sensory perception of light stimulusIMP
GO:0050957equilibrioceptionIMP
Component
IDNameEvidence
GO:0001750photoreceptor outer segmentIEA
GO:0001917photoreceptor inner segmentIEA
GO:0005737cytoplasmIDA
GO:0005829cytosolIEA
GO:0005856cytoskeletonIEA
GO:0005886plasma membraneIEA
GO:0032420stereociliumTAS
GO:0045177apical part of cellIDA
GO:0045202synapseIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0030507spectrin bindingIDA
GeneCards USH1C
UniProt Q9Y6N9
Vega OTTHUMG00000166323
MIM 605242
Ensembl ENSG00000006611
HGNC 12597
HPRD 09241

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the USH1C gene?

The USH1C gene carries the instructions for the production of a protein called harmonin. Harmonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Harmonin sometimes acts as a bridge linking proteins in the cell membrane to those in the cytoskeleton, the internal framework that supports the cell.

Research suggests that harmonin plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, an essential process for normal hearing. In the inner ear, protein complexes organized by harmonin probably act as connectors that link stereocilia into a bundle. This protein complex likely helps regulate the transmission of sound waves.

Harmonin is also made in specialized cells called photoreceptors. These cells detect and transfer light energy to the light-sensitive tissue at the back of the eye (the retina). The function of the harmonin-protein complex in the retina is not well understood, but it is thought to be important in the development and function of photoreceptor cells.

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