Recombinant Human Dedicator of cytokinesis protein 8 (DOCK8), partial | CSB-YP836734HU

Recombinant Human Dedicator of cytokinesis protein 8 (DOCK8), partial | CSB-YP836734HU | Cusabio

Alternative Name(s): DOCK8Dedicator of cytokinesis protein 8

Gene Names: DOCK8

Research Areas: Others

Organism: Homo sapiens (Human)

AA Sequence: RNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGPEFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKGVFNIEVQAV

Source: Yeast

Tag Info: N-terminal 6xHis-tagged

Expression Region: 560-729aa

Sequence Info: Partial

MW: 21.3 kDa

Purity: Greater than 85% as determined by SDS-PAGE.

Relevance: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing

Reference: "The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain." Ottolenghi C., Veitia R., Quintana-Murci L., Torchard D., Scapoli L., Souleyreau-Therville N., Beckmann J., Fellous M., McElreavey K. Genomics 64:170-178(2000)

Storage: 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?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

Function: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP

Involvement in disease: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES); Mental retardation, autosomal dominant 2 (MRD2)

Subcellular Location: Cytoplasm, Cell membrane, Peripheral membrane protein, Cytoplasmic side, Cell projection, lamellipodium membrane, Peripheral membrane protein, Cytoplasmic side

Protein Families: DOCK family

Tissue Specificity: Expressed in peripheral blood mononuclear cells (PBMCs).

Paythway:

Form: Liquid or Lyophilized powder

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.

Uniprot ID: Q8NF50

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM