Product Name
Clarin-1 (CLRN1), Recombinant Protein
Full Product Name
Recombinant Human Clarin-1 (CLRN1)
Product Gene Name
CLRN1 recombinant protein
[Similar Products]
Product Synonym Gene Name
USH3A[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
1-232aa; Full length protein
Sequence
MPSQQKKIIF CMAGVFSFAC ALGVVTALGT PLWIKATVLC KTGALLVNAS GQELDKFMGE MQYGLFHGEG VRQCGLGARP FRFSFFPDLL KAIPVSIHVN VILFSAILIV LTMVGTAFFM YNAFGKPFET LHGPLGLYLL SFISGSCGCL VMILFASEVK IHHLSEKIAN YKEGTYVYKT QSEKYTTSFW VIFFCFFVHF LNGLLIRLAG FQFPFAKSKD AETTNVAADL MY
3D Structure
ModBase 3D Structure for P58418
Host
Cell Free Expression
Form/Format
Liquid containing glycerol
Storage Buffer
Tris-based buffer, 50% glycerol.
Preparation and Storage
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of CLRN1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Product Categories/Family for CLRN1 recombinant protein
Transmembrane Protein
Application Notes for CLRN1 recombinant protein
This is a recombinant transmembrane protein expressed in a cell-free expression system.
NCBI/Uniprot data below describe general gene information for CLRN1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001182723.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001195794.1
[Other Products]
UniProt Primary Accession #
P58418
[Other Products]
UniProt Secondary Accession #
Q8N6A9; D3DNJ3; E1ACU9[Other Products]
UniProt Related Accession #
P58418[Other Products]
Molecular Weight
27,192 Da
NCBI Official Full Name
clarin-1 isoform d
NCBI Official Synonym Full Names
clarin 1
NCBI Official Symbol
CLRN1??[Similar Products]
NCBI Official Synonym Symbols
RP61; USH3; USH3A
??[Similar Products]
NCBI Protein Information
clarin-1
UniProt Protein Name
Clarin-1
UniProt Synonym Protein Names
Usher syndrome type-3 protein
UniProt Gene Name
CLRN1??[Similar Products]
UniProt Synonym Gene Names
USH3A??[Similar Products]
UniProt Entry Name
CLRN1_HUMAN
NCBI Summary for CLRN1
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for CLRN1
USH3A: 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. Defects in CLRN1 are the cause of Usher syndrome type 3A (USH3A). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual progressive deafness and onset of retinitis pigmentosa in the second decade of life. Defects in CLRN1 are the cause of retinitis pigmentosa type 61 (RP61). RP61 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the clarin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 3q25
Cellular Component: integral to membrane; lamellipodium; microvillus; plasma membrane
Biological Process: actin filament organization; cell motility involved in cell locomotion; equilibrioception; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception
Disease: Retinitis Pigmentosa; Retinitis Pigmentosa 61; Usher Syndrome, Type Iiia
Research Articles on CLRN1
1. This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations.
Precautions
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Disclaimer
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