Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 2, mRNA.
| RefSeq Version | NM_013416.3, 163644266 |
| Length | 1646 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 2, mRNA. |
| Product | neutrophil cytosol factor 4 isoform 2 |
| Comment | Summary: The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq]. Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2). This isoform (2) lacks the PC (Phox and Cdc24p) motif, which may be important for the interaction with NCF2. |
| RefSeq | NP_038202.2 |
| CDS | 185..1231 | Exon (1) | 1..216 | Exon (2) | 1..216 | Exon (3) | 217..301 | Exon (4) | 302..455 | Exon (5) | 456..526 | Exon (6) | 527..654 | Exon (7) | 655..712 | Exon (8) | 713..811 | Exon (9) | 812..1253 | Exon (10) | 1254..1643 |
| Translation | MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYR
QFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLP
VWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFD
FTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTS
HQRPGWPGQPHSPFPHPTPHFQPDASLLQPVTPLGTSRWRKISAALPY
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| 38 | + | c, t | dbSNP:11703711 |
| 148 | + | a, g | dbSNP:34567417 |
| 247 | + | c, t | dbSNP:34373276 |
| 253 | + | a, g | dbSNP:10854695 |
| 270 | + | c, t | dbSNP:13057803 |
| 290 | + | a, c | dbSNP:117520448 |
| 424 | + | c, t | dbSNP:35431748 |
| 438 | + | a, c | dbSNP:112306225 |
| 467 | + | a, g | dbSNP:112273712 |
| 490 | + | c, t | dbSNP:34072404 |
| 537 | + | a, g | dbSNP:9610595 |
| 642 | + | a, g | dbSNP:35160112 |
| 789 | + | a, g | dbSNP:35355915 |
| 919 | + | c, t | dbSNP:2072712 |
| 999 | + | c, t | dbSNP:2075939 |
| 1326 | + | a, g | dbSNP:11552115 |
| 1340 | + | a, c | dbSNP:5995361 |
| 1389 | + | c, t | dbSNP:1858 |
| 1440 | + | a, g | dbSNP:28669668 |
| 1460..1461 | + | , c | dbSNP:36023462 |
| 1529..1530 | + | , g | dbSNP:34155264 |
| Gene Symbol | NCF4 |
| Gene Synonym | MGC3810; NCF; P40PHOX; SH3PXD4 |
| Chromosome | 22 |
| Locus Map | 22q13.1 |
| All Transcripts | NM_013416 , NM_000631 |
| Title | Subcellular localisation of the p40phox component of NADPH oxidase involves direct interactions between the Phox homology domain and F-actin . |
| Author | Shao,D., Segal,A.W. and Dekker,L.V. |
| Journal | Int. J. Biochem. Cell Biol. 42 (10), 1736-1743 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Polymorphisms in innate immunity genes and risk of childhood leukemia . |
| Author | Han,S., Lan,Q., Park,A.K., Lee,K.M., Park,S.K., Ahn,H.S., Shin,H.Y., Kang,H.J., Koo,H.H., Seo,J.J., Choi,J.E., Ahn,Y.O., Chanock,S.J., Kim,H., Rothman,N. and Kang,D. |
| Journal | Hum. Immunol. 71 (7), 727-730 (2010) |
| Title | Risk of meningioma and common variation in genes related to innate immunity . |
| Author | Rajaraman,P., Brenner,A.V., Neta,G., Pfeiffer,R., Wang,S.S., Yeager,M., Thomas,G., Fine,H.A., Linet,M.S., Rothman,N., Chanock,S.J. and Inskip,P.D. |
| Journal | Cancer Epidemiol. Biomarkers Prev. 19 (5), 1356-1361 (2010) |
| Title | Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) . |
| Author | Roos,D., Kuhns,D.B., Maddalena,A., Bustamante,J., Kannengiesser,C., de Boer,M., van Leeuwen,K., Koker,M.Y., Wolach,B., Roesler,J., Malech,H.L., Holland,S.M., Gallin,J.I. and Stasia,M.J. |
| Journal | Blood Cells Mol. Dis. 44 (4), 291-299 (2010) |
| Title | Mechanisms of NADPH oxidase activation: translocation of p40phox, Rac1 and Rac2 from the cytosol to the membranes in human neutrophils lacking p47phox or p67phox . |
| Author | Dusi,S., Donini,M. and Rossi,F. |
| Journal | Biochem. J. 314 (PT 2), 409-412 (1996) |
| Title | Assembly of the phagocyte NADPH oxidase: binding of Src homology 3 domains to proline-rich targets . |
| Author | Leto,T.L., Adams,A.G. and de Mendez,I. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 91 (22), 10650-10654 (1994) |
| Title | A novel cytosolic component, p40phox, of respiratory burst oxidase associates with p67phox and is absent in patients with chronic granulomatous disease who lack p67phox . |
| Author | Tsunawaki,S., Mizunari,H., Nagata,M., Tatsuzawa,O. and Kuratsuji,T. |
| Journal | Biochem. Biophys. Res. Commun. 199 (3), 1378-1387 (1994) |
| Title | p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains . |
| Author | Wientjes,F.B., Hsuan,J.J., Totty,N.F. and Segal,A.W. |
| Journal | Biochem. J. 296 (PT 3), 557-561 (1993) |
| Title | The essence of operating room nursing. Paramedical personnel . |
| Author | Jones,J.H. |
| Journal | Australas Nurses J 7 (1), 44-45 (1977) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |