Recombinant Human Biotin--protein ligase (HLCS)

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Code CSB-EP010518HU
Abbreviation Recombinant Human HLCS protein
MSDS
Size $306
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Activity
Not Test
Target Names
HLCS
Uniprot No.
Research Area
Signal Transduction
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1-726aa
Target Protein Sequence
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.
Mol. Weight
85.8 kDa
Protein Length
Full Length
Tag Info
N-terminal 10xHis-tagged and C-terminal Myc-tagged
Form
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.
Buffer
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.
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
3-7 business days
Notes
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.

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Target Background

Function
Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
Gene References into Functions
  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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Involvement in disease
Holocarboxylase synthetase deficiency (HLCS deficiency)
Subcellular Location
Cytoplasm. Mitochondrion.
Protein Families
Biotin--protein ligase family
Tissue Specificity
Widely expressed. Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung.
Database Links

HGNC: 4976

OMIM: 253270

KEGG: hsa:3141

STRING: 9606.ENSP00000338387

UniGene: Hs.371350

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