Human NHEJ1 Recombinant Protein (RPPB4092)
- SKU:
- RPPB4092
- Product type:
- Recombinant Protein
- Size:
- 10ug
- Species:
- Human
- Target:
- NHEJ1
- Synonyms:
- Nonhomologous end-joining factor 1
- Protein cernunnos
- XRCC4-like factor
- Cernunnos
- Source:
- Escherichia Coli
- Uniprot:
- Q9H9Q4
Description
| Product Name: | Human NHEJ1 Recombinant Protein |
| Product Code: | RPPB4092 |
| Size: | 10µg |
| Species: | Human |
| Target: | NHEJ1 |
| Synonyms: | Nonhomologous end-joining factor 1, Protein cernunnos, XRCC4-like factor, Cernunnos, XLF, FLJ12610. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The NHEJ1 solution (0.5mg/1ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.1M NaCl, 1mM DTT and 20% 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 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGS MEELEQG LLMQPWAWLQ LAENSLLAKV FITKQGYALL VSDLQQVWHE QVDTSVVSQR AKELNKRLTA PPAAFLCHLD NLLRPLLKDA AHPSEATFSC DCVADALILR VRSELSGLPF YWNFHCMLAS PSLVSQHLIR PLMGMSLALQ CQVRELATLL HMKDLEIQDY QESGATLIRD RLKTEPFEEN SFLEQFMIEK LPEACSIGDG KPFVMNLQDL YMAVTTQ |
Non-homologous end-joining factor 1 (NHEJ1) is a member of the XLF family. NHEJ1 is a DNA repair factor vital for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. NHEJ1 gene mutations cause different kinds of severe combined immunodeficiency disorders. NHEJ1 was initially detected as the protein mutated in five patients with growth retardation, microcephaly, and immunodeficiency. In addition, patients with NHEJ1 mutations have immunodeficiency caused by a defect in V(D)J recombination, which employs NHEJ to promote immune system diversity.
NHEJ1 Human Recombinant produced in E. coli is a single polypeptide chain containing 247 amino acids (1-224) and having a molecular mass of 27.8 kDa.NHEJ1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | NHEJ1: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner. Ubiquitously expressed. Belongs to the XLF family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:DNA repair, damage Chromosomal Location of Human Ortholog: 2q35 Cellular Component: nucleus Molecular Function:protein binding; DNA binding Biological Process: central nervous system development; B cell differentiation; response to ionizing radiation; positive regulation of ligase activity; double-strand break repair via nonhomologous end joining; DNA recombination; T cell differentiation Disease: Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation |
| NCBI Summary: | Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9H9Q4 |
| NCBI GenInfo Identifier: | 74734059 |
| NCBI Gene ID: | 79840 |
| NCBI Accession: | Q9H9Q4.1 |
| UniProt Secondary Accession: | Q9H9Q4,Q4ZFW7, Q6IA64, Q96JS9, B8ZZA4, |
| UniProt Related Accession: | Q9H9Q4 |
| Molecular Weight: | 299 |
| NCBI Full Name: | Non-homologous end-joining factor 1 |
| NCBI Synonym Full Names: | nonhomologous end-joining factor 1 |
| NCBI Official Symbol: | NHEJ1 |
| NCBI Official Synonym Symbols: | XLF |
| NCBI Protein Information: | non-homologous end-joining factor 1; XRCC4-like factor; protein cernunnos |
| UniProt Protein Name: | Non-homologous end-joining factor 1 |
| UniProt Synonym Protein Names: | Protein cernunnos; XRCC4-like factor |
| Protein Family: | Non-homologous end-joining factor |
| UniProt Gene Name: | NHEJ1 |
| UniProt Entry Name: | NHEJ1_HUMAN |
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