Human SIX1 Recombinant Protein (RPPB4698)

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SKU:
RPPB4698
Product type:
Recombinant Protein
Size:
20ug
Species:
Human
Target:
SIX1
Synonyms:
SIX Homeobox 1
Synonyms:
Sine Oculis Homeobox Homolog 1
Synonyms:
Sine Oculis Homeobox Homolog 1 (Drosophila)
Synonyms:
Homeobox Protein SIX1
Source:
Escherichia Coli
Uniprot:
Q15475
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Description

Product Name:Human SIX1 Recombinant Protein
Product Code:RPPB4698
Size:20µg
Species:Human
Target:SIX1
Synonyms:SIX Homeobox 1, Sine Oculis Homeobox Homolog 1, Sine Oculis Homeobox Homolog 1 (Drosophila), Homeobox Protein SIX1, Deafness Autosomal Dominant 23, DFNA23, TIP39, BOS3.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:The SIX1 solution contains 20mM Tris-HCl buffer (pH 8.0), 2M Urea and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 85% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSHMSMLPS FGFTQEQVAC VCEVLQQGGN LERLGRFLWS LPACDHLHKN ESVLKAKAVV AFHRGNFREL YKILESHQFS PHNHPKLQQL WLKAHYVEAE KLRGRPLGAV GKYRVRRKFP LPRTIWDGEE TSYCFKEKSR GVLREWYAHN PYPSPREKRE LAEATGLTTT QVSNWFKNRR QRDRAAEAKE RENTENNNSS SNKQNQLSPL EGGKPLMSSS EEEFSPPQSP DQNSVLLLQG NMGHARSSNY SLPGLTASQP SHGLQTHQHQ LQDSLLGPLT SSLVDLGS

Homeobox protein SIX1 (SIX1) belongs to the SIX gene family. SIX1 is characterized by a divergent DNA-binding homeodomain and an upstream SIX domain, which is involved both in determining DNA-binding specificity and in mediating protein-protein interactions. SIX1 has a role in vertebrate and insect development or in the maintenance of the differentiated state of tissues.

SIX1 Human Recombinant produced in E. coli is a single polypeptide chain containing 308 amino acids (1-284) and having a molecular mass of 34.7 kDa.SIX1 is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:SIX1: May be involved in limb tendon and ligament development. Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23). A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3). BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients. Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. Belongs to the SIX/Sine oculis homeobox family.
UniProt Protein Details:

Protein type:Cell development/differentiation; DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 14q23.1

Cellular Component: nucleolus; nucleus; transcription factor complex

Molecular Function:DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity

Biological Process: embryonic cranial skeleton morphogenesis; embryonic skeletal morphogenesis; epithelial cell differentiation; generation of neurons; induction of an organ; inner ear development; inner ear morphogenesis; kidney development; myoblast migration; negative regulation of neuron apoptosis; pattern specification process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of neuron differentiation; regulation of transcription, DNA-dependent; skeletal muscle development; thymus development; thyroid gland development; ureteric bud branching; ureteric bud development

Disease: Branchiootic Syndrome 3; Branchiootorenal Syndrome 1; Deafness, Autosomal Dominant 23

NCBI Summary:The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
UniProt Code:Q15475
NCBI GenInfo Identifier:2495290
NCBI Gene ID:6495
NCBI Accession:Q15475.1
UniProt Secondary Accession:Q15475,Q53Y16, Q96H64,
UniProt Related Accession:Q15475
Molecular Weight:32kDa
NCBI Full Name:Homeobox protein SIX1
NCBI Synonym Full Names:SIX homeobox 1
NCBI Official Symbol:SIX1  
NCBI Official Synonym Symbols:BOS3; TIP39; DFNA23  
NCBI Protein Information:homeobox protein SIX1
UniProt Protein Name:Homeobox protein SIX1
UniProt Synonym Protein Names:Sine oculis homeobox homolog 1
Protein Family:Homeobox protein
UniProt Gene Name:SIX1  
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