- Catalog number
- A06049-1-carrier-free
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is a protein that in humans is encoded by the SMARCAD1 gene. It is mapped to 4q22.3. This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
- Synonyms
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1; ATP-dependent helicase 1; hHEL1; SMARCAD1; KIAA1122
- Gene Name
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
- Gene ID
- 56916
- UniProt
- Q9H4L7
- Host
- Rabbit
- Reactivity
- Human,Mouse,Rat
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived human SMARCAD1 recombinant protein (Position: D827-T1002).
- Clonality
- Polyclonal
- Tissue Specificity
- Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.
- Applications
- ELISA,Flow Cytometry,IP,IF,IHC,ICC,WB
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Function
- DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by ing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing.
- Components
- Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.01mg NaN3.
- References & Citations
- 1. Nousbeck, J., Burger, B., Fuchs-Telem, D., Pavlovsky, M., Fenig, S., Sarig, O., Itin, P., Sprecher, E. A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am. J. Hum. Genet. 89: 302-307, 2011.
2. Nousbeck, J., Sarig, O., Magal, L., Warschauer, E., Burger, B., Itin, P., Sprecher, E. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. Brit. J. Derm. 171: 1521-1524, 2014.
3. Okazaki, N., Ikeda, S., Ohara, R., Shimada, K., Yanagawa, T., Nagase, T., Ohara, O., Koga, H. The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS. J. Molec. Biol. 382: 257-265, 2008.
- Storage Conditions
- Store at -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 80420 MW
- Observed Molecular Weight
- 150 kDa
- Fragment
- Rabbit IgG
- Specificity
- No cross reactivity with other proteins.
- Applications Notes
- Western blot, 0.1-0.5μg/ml<br>
Immunohistochemistry (Paraffin-embedded Section), 0.5-1μg/ml<br>
Immunocytochemistry/Immunofluorescence, 2μg/ml<br>
Immunoprecipitation, 0.5-2 μg/ml, Human<br>
Flow Cytometry (Fixed), 1-3μg/1x10<sup>6</sup> cells
ELISA, 0.1-0.5μg/ml<br>
- Subcellular Location
- Nucleus. Chromosome.
- Protein Name
- Long-chain-fatty-acid--CoA ligase 3