Recombinant Human Biotin--protein ligase (HLCS)

中文名稱：

Recombinant Human Biotin--protein ligase (HLCS)
貨號：

CSB-EP010518HU
規(guī)格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
生物活性：

Not Test
基因名：

HLCS
Uniprot No.：

P50747
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

E.coli
分子量：

85.8 kDa
表達區(qū)域：

1-726aa
氨基酸序列

MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHVGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQGGKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSPGRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLRFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPFVQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGCGFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVLPLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNLILPKRR
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged and C-terminal Myc-tagged
產(chǎn)品提供形式：

Liquid or 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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
復溶：

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.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

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.
貨期：

Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

功能：

Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
基因功能參考文獻：
1. The function of HCS and biotin in metabolism and human disease, a putative role for the enzyme in histone biotinylation, and its participation as a nuclear factor in chromatin dynamics is discussed. PMID: 28564555
2. The transcriptional function of HCS was shown by in vitro pull down and in vivo co-immunoprecipitation assays to depend on its interaction with the histone deacetylases HDAC1, HDAC2 and HDAC7 PMID: 24239178
3. Data suggest that direct interactions of HLCS (holocarboxylase synthetase) with NCOR1 (nuclear receptor corepressor 1) and HDAC1 (histone deacetylase 1) contribute toward transcriptional repression of repeats, presumably increasing genome stability. PMID: 24840043
4. study characterizes three functional promoters in the human HLCS gene PMID: 24075901
5. HLCS interacts physically with the DNA methyltransferase DNMT1 and the methyl CpG binding protein MeCP2 to facilitate the binding of HLCS to chromatin. PMID: 23624957
6. This study showed that modification of HSP72 and demonstrated that binding of biotin to extracellular HSP72 prepares cells for a strong immune response. PMID: 24133061
7. individuals with HLCS SNPs may benefit from supplemental biotin, yet to different extents depending on the genotype PMID: 22027809
8. HLCS methionine-58 is a functional translation start site in human cells. PMID: 21802411
9. Holocarboxylase synthetase interacts directly with histone H3, causing biotinylation of lysine K9 and K18. PMID: 20688500
10. Mutation analysis by polymerase chain reaction-sequencing of the entire coding region of the HLCS gene revealed the c.1522C>T (p.R508W) mutation in six of the eight mutant alleles. suggests it as the most common mutation in the Thai population PMID: 20095979
11. The results of this study suggest that miR-539 is among the factors sensing biotin and regulating holocarboxylase synthetase expression. PMID: 20592104
12. Data suggest that the N-terminal domain of hHCS recognizes the charged region of biotin acceptor protein, distinctly from the recognition by the catalytic domain. PMID: 20085763
13. the localisation of HCS and its isoforms PMID: 20153287
14. The mutations R508W and V363D of holocarboxylase synthetase might be hot-spots in Chinese children with holocarboxylase synthetas deficiency. PMID: 19695181
15. The study shows that not all the proteins and polypeptides that interact with holocarboxylase synthetase are targets for biotinylation, but that carboxylase- and histone-like structures are preferred HCS targets. PMID: 20026029
16. These results provide insights into substrate recognition by hHCS, which can be distinguished from BirA in this respect. PMID: 19914215
17. 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. PMID: 19806568
18. 6 HLCS mutations were identified, including 2 new (N511K and G582R) and 4 known missense mutations (L216R, R508W, V550M, and G581S). 5 are in the biotin-binding domain. Tthe L216R change is in the N-terminal region outside the biotin-binding domain. PMID: 12124727
19. Detection of mutations by tandem mass spectrometry in Carnitine transporter deficiency. PMID: 17417720
20. findings from this study are consistent with the theory that HCS senses biotin, and that biotin regulates its own cellular uptake by participating in HCS-dependent chromatin remodeling events at the SMVT promoter 1 locus in Jurkat cells. PMID: 17904341
21. Study investigated cell lines from 2 HLCS-deficient patients p.L216R allele; enzyme activity was decreased for p.L216R and could not be increased by additional biotin; furthermore, the turn-over rate for the mutant protein was double that of wildtype. PMID: 18429047
22. Biotinylation of histones by BirA ligase is consistent with the proposed role of human HCS in chromatin. PMID: 18452652
23. The aim of this study was to investigate the effects of holocarboxylase synthetase (HCS) gene to irradiation in a time- and dose-dependent manner. PMID: 19048367
24. The hypothesis that N- and C-termini play roles in substrate recognition by HCS, was tested. PMID: 19157941
25. Amino termini of HCS influence biotin acceptor substrate recognition PMID: 19740736
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相關(guān)疾病：

Holocarboxylase synthetase deficiency (HLCS deficiency)
亞細胞定位：

Cytoplasm. Mitochondrion.
蛋白家族：

Biotin--protein ligase family
組織特異性：

Widely expressed. Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung.
數(shù)據(jù)庫鏈接：

HGNC: 4976

OMIM: 253270

KEGG: hsa:3141

STRING: 9606.ENSP00000338387

UniGene: Hs.371350