- Catalog number
- A06060-3
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Geminin, DNA replication inhibitor, also known as GMNN, is a protein in humans encoded by the GMNN gene. This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16.
- 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
- GMNN
- Gene ID
- 51053
- UniProt
- O75496
- Host
- Rabbit
- Reactivity
- Human, Mouse
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived human Geminin/GMNN recombinant protein (Position: V21-E196) .
- Clonality
- Polyclonal
- Tissue Specificity
- Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.
- Applications
- WB, IHC, ICC, IF, Flow Cytometry, ELISA
- Field of Research
- Chromatin Remodeling, Epigenetics and Nuclear Signaling
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/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.
- References & Citations
- 1. Bongers, E. M. H. F., Opitz, J. M., Fryer, A., Sarda, P., Hennekam, R. C. M., Hall, B. D., Superneau, D. W., Harbison, M., Poss, A., van Bokhoven, H., Hamel, B. C. J., Knoers, N. V. A. M. Meier-Gorlin syndrome: report of eight additional cases and review. Am. J. Med. Genet. 102: 115-124, 2001. 2. Burrage, L. C., Charng, W.-L., Eldomery, M. K., Willer, J. R., Davis, E. E., Lugtenberg, D., Zhu, W., Leduc, M. S., Akdemir, Z. C., Azamian, M., Zapata, G., Hernandez, P. P., and 18 others. De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome. Am. J. Hum. Genet. 97: 904-913, 2015. 3. de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., and 22 others. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Europ. J. Hum. Genet. 20: 598-606, 2012.
- Storage Conditions
- At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.
- Calculated Molecular Weight
- 80420 MW
- Observed Molecular Weight
- 25 kDa
- Applications Notes
- 6
- Gene Name Synonym
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
- Subcellular Location
- Nucleus. Chromosome.
- Protein Name
- Long-chain-fatty-acid--CoA ligase 3
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.