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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu20937 NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu21746 NM_153676 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu44734 XM_006718119 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu44735 XM_005252725 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu20937C NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu21746C NM_153676 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA. Customized vector On-demand 12-14 $329.00
OHu44734C XM_006718119 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00
OHu44735C XM_005252725 PREDICTED: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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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?

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