Recombinant Human Clarin-1(CLRN1), partial

Code CSB-YP005583HU1
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Source Yeast
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Code CSB-EP005583HU1
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Source E.coli
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Code CSB-EP005583HU1-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP005583HU1
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Source Baculovirus
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Code CSB-MP005583HU1
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names CLRN1
Uniprot No. P58418
Alternative Names CLRN1; USH3A; Clarin-1; Usher syndrome type-3 protein
Species Homo sapiens (Human)
Expression Region 29-100aa
Target Protein Sequence GTPLWIKATVLCKTGALLVNASGQELDKFMGE MQYGLFHGEGVRQCGLGARPFRFSFFPDLLKAIPVSIHVN
Protein Length partial
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
Gene References into Functions
  1. Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula. PMID: 28469144
  2. This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations. PMID: 25743179
  3. Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. PMID: 22681893
  4. Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3. PMID: 23304067
  5. High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations. PMID: 22964989
  6. This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo. PMID: 22787034
  7. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III. PMID: 21675857
  8. Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar. PMID: 21310491
  9. The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype. PMID: 20717163
  10. a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes PMID: 12080385
  11. revised structure of USH3 gene: new translation start site, 5' untranslated region, and transcript encoding 232-amino acid protein; four new disease-causing mutations; identified mouse and rat orthologues, and two human paralogues on chromosomes 4 and 10 PMID: 12145752
  12. USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities. PMID: 18281613
  13. clarin-1 has a role in the regulation and homeostasis of actin filaments PMID: 19423712
  14. Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins. PMID: 19753315
  15. Mutations in the USH3 gene underlie Usher syndrome type 3. PMID: 11524702

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Involvement in disease Usher syndrome 3A (USH3A); Retinitis pigmentosa 61 (RP61)
Subcellular Location Cell membrane; Multi-pass membrane protein.
Protein Families Clarin family
Tissue Specificity Widely expressed. Found in the retina.
Database Links

HGNC: 12605

OMIM: 276902

KEGG: hsa:7401

UniGene: Hs.745448

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