Browse our Usher Syndrome 1C (Autosomal Recessive, Severe) Proteins (USH1C)

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Usher Syndrome 1C (Autosomal Recessive, Severe) Proteins (USH1C)
On www.antibodies-online.com are 15 Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C) Proteins from 7 different suppliers available. Additionally we are shipping Usher Syndrome 1C (Autosomal Recessive, Severe) Antibodies (66) and many more products for this protein. A total of 85 Usher Syndrome 1C (Autosomal Recessive, Severe) products are currently listed.
Synonyms:
2010016F01Rik, AIE-75, DFNB18, DFNB18A, harmonin, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
list all proteins Gene Name GeneID UniProt
Mouse USH1C USH1C 72088 Q9ES64
Rat USH1C USH1C 308596  
USH1C 10083 Q9Y6N9

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Usher Syndrome 1C (Autosomal Recessive, Severe) Proteins (USH1C) by Origin

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Top referenced Usher Syndrome 1C (Autosomal Recessive, Severe) Proteins

  1. Human USH1C Protein expressed in Escherichia coli (E. coli) - ABIN667114 : Ouyang, Xia, Verpy, Du, Pandya, Petit, Balkany, Nance, Liu: Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. in Human genetics 2002 (PubMed)
    Show all 2 references for 667114

More Proteins for Usher Syndrome 1C (Autosomal Recessive, Severe) Interaction Partners

Mouse (Murine) Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C) interaction partners

  1. Harmonin enhances voltage-dependent facilitation of Cav1.3 (show CACNA1D Proteins) channels and synchronous exocytosis in mouse inner hair cells.

  2. MYO7A, USH1G (Sans) and CDH23 (show CDH23 Proteins) form the upper tip-link complex in adult mice, likely in combination with USH1C (harmonin).

  3. examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 (show PCDH15 Proteins) and Sans in the inner ear

  4. Cadherin-23 (show CDH23 Proteins), myosin VIIa and harmonin form a ternary complex and interact with phospholipids.

  5. The fact that Ush1c expression is much higher in the ear than in the eye suggests a different role for Ush1c in ear function than in the eye and may explain why Ush1c mutant mice do not recapitulate vision defects.

  6. forms a complex with cadherin 23 by means of PDZ-domain interactions

  7. the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia

  8. Harp (show C5orf13 Proteins) + harmonin constitute a scaffolding complex to facilitate signal transduction in epithelia.

  9. Rac-DOCK4-actin-binding protein harmonin-activated signaling pathway is possibly involved in regulating actin cytoskeleton organization in stereocilia of the inner ear.

  10. harmonin is a upper tip-link density component and contributes to establishing the sensitivity of mechanotransduction channels to displacement.

Human Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C) interaction partners

  1. Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

  2. In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2.

  3. ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins

  4. harmonin and villin autoantibodies are sensitive and specific markers of IPEX (show FOXP3 Proteins), differentiate IPEX (show FOXP3 Proteins), including atypical cases, from other early childhood disorders associated with enteropathy

  5. We localized proteins encoded by the top two regulated genes, TBL1X (show TBL1X Proteins) and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.

  6. Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia

  7. Pathogenic mutations in MYO7A, USH1C, and USH1G (show USH1G Proteins) have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.

  8. We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.

  9. Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.

  10. Mutations in harmonin and Sans (show USH1G Proteins) found in USH1 patients are shown to destabilize the complex formation of the two proteins

Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C) Protein Profile

Protein 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.

Alternative names and synonyms associated with Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C)

  • harmonin (CpipJ_CPIJ012732)
  • harmonin (LOC100345203)
  • Usher syndrome 1C (Ush1c)
  • Usher syndrome 1C (autosomal recessive, severe) (USH1C)
  • 2010016F01Rik protein
  • AIE-75 protein
  • DFNB18 protein
  • DFNB18A protein
  • harmonin protein
  • NY-CO-37 protein
  • NY-CO-38 protein
  • PDZ-45 protein
  • PDZ-73 protein
  • PDZ-73/NY-CO-38 protein
  • PDZ73 protein
  • PDZD7C protein
  • ush1cpst protein

Protein level used designations for USH1C

harmonin , PDZ domain-containing protein , Usher syndrome 1C homolog , usher syndrome type-1C protein homolog , harmonin a1 , antigen NY-CO-38/NY-CO-37 , autoimmune enteropathy-related antigen AIE-75 , renal carcinoma antigen NY-REN-3 , usher syndrome type-1C protein

GENE ID SPECIES
6045741 Culex quinquefasciatus
100345203 Oryctolagus cuniculus
72088 Mus musculus
308596 Rattus norvegicus
10083 Homo sapiens
530709 Bos taurus
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