Human B9D1 Recombinant Protein (RPPB2840)
- SKU:
- RPPB2840
- Product type:
- Recombinant Protein
- Size:
- 20ug
- Species:
- Human
- Target:
- B9D1
- Synonyms:
- B9 Protein Domain 1
- MKSR1
- Endothelial Precursor ProteinB9
- MKS1-Related Protein 1
- Source:
- Escherichia Coli
- Uniprot:
- Q9UPM9
Description
| Product Name: | Human B9D1 Recombinant Protein |
| Product Code: | RPPB2840 |
| Size: | 20µg |
| Species: | Human |
| Target: | B9D1 |
| Synonyms: | B9 Protein Domain 1, MKSR1, Endothelial Precursor ProteinB9, MKS1-Related Protein 1, MKS9, B9 Domain-Containing Protein 1, EPPB9, B9, B9domain-containing protein 1. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | B9D1 protein solution (1mg/ml) containing 20mM Tris-HClbuffer (pH 8.0), 10% glycerol and 0.4M Urea. |
| 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 MGSMATASPS VFLLMVNGQV ESAQFPEYDD LYCKYCFVYG QDWAPTAGLEEGISQITSKS QDVRQALVWN FPIDVTFKST NPYGWPQIVL SVYGPDVFGN DVVRGYGAVH VPFSPGRHKRTIPMFVPEST SKLQKFTSWF MGRRPEYTDP KVVAQGEGREVTRVRSQGFV TLLFNVVTKD MRKLGYDTGP SDTQGVLGPS PPQSFPQ |
B9 domain-containing protein (B9D1) is one of the numerous proteinswhich take part in ciliogenesis. Alterations in expression of B9D1 have been foundin a family with Meckel syndrome. The Meckel syndrome has been associated withat least six different genes. B9D1 is placed within the Smith-Magenis syndromeregion on chromosome 17. Three alternatively spliced transcript variants which encodedissimilar proteins have been found for B9D1.
B9D1 Human Recombinant produced in E.Coli is a single,non-glycosylated polypeptide chain containing 227 amino acids (1-204 a.a) andhaving a molecular mass of 25.2kDa.B9D1 is fused to a 23 amino acid His-tag at N-terminus& purified by proprietary chromatographic techniques.
| UniProt Protein Function: | B9D1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling. Defects in B9D1 are the cause of Meckel syndrome type 9 (MKS9). A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Belongs to the B9D family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 17p11.2 Cellular Component: centrosome; membrane; cytosol Molecular Function:hedgehog receptor activity Biological Process: smoothened signaling pathway; regulation of protein localization; camera-type eye development; vasculature development; in utero embryonic development; organelle organization and biogenesis; cilium biogenesis; embryonic digit morphogenesis Disease: Meckel Syndrome, Type 9 |
| NCBI Summary: | This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011] |
| UniProt Code: | Q9UPM9 |
| NCBI GenInfo Identifier: | 343478275 |
| NCBI Gene ID: | 27077 |
| NCBI Accession: | NP_056496 |
| UniProt Secondary Accession: | Q9UPM9,Q9BU22, |
| UniProt Related Accession: | Q9UPM9 |
| Molecular Weight: | 16,919 Da |
| NCBI Full Name: | B9 domain-containing protein 1 isoform a |
| NCBI Synonym Full Names: | B9 protein domain 1 |
| NCBI Official Symbol: | B9D1 |
| NCBI Official Synonym Symbols: | B9; MKS9; EPPB9; MKSR1 |
| NCBI Protein Information: | B9 domain-containing protein 1; MKS1-related protein 1; endothelial precursor protein B9 |
| UniProt Protein Name: | B9 domain-containing protein 1 |
| UniProt Synonym Protein Names: | MKS1-related protein 1 |
| Protein Family: | B9 domain-containing protein |
| UniProt Gene Name: | B9D1 |
| UniProt Entry Name: | B9D1_HUMAN |
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