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Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_013416 Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 2, mRNA. ORF Sequence $303.63
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RefSeq Version NM_013416.3, 163644266
Length 1646 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].


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
Misc Feature(1)122..124
Misc Feature(2)239..607
Misc Feature(3)239..607
Misc Feature(4)order(281..283,287..292,296..298,362..364,596..598,
Misc Feature(5)order(356..364,458..463,497..499)
Misc Feature(6)644..646
Misc Feature(7)704..865
Misc Feature(8)order(719..724,734..736,746..748,791..796,800..805,
Misc Feature(9)order(782..784,821..826,830..832)
Misc Feature(10)896..>958
Misc Feature(11)order(899..901,905..907,938..946)
Misc Feature(12)order(899..901,905..907,935..943)
Misc Feature(13)905..907
Exon (1)1..216
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (2)217..301
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (3)302..455
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (4)456..526
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (5)527..654
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (6)655..712
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (7)713..811
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (8)812..1253
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Exon (9)1254..1643
Gene:NCF4
Gene Synonym:NCF; P40PHOX; SH3PXD4
Translation MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYR QFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLP VWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFD FTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTS HQRPGWPGQPHSPFPHPTPHFQPDASLLQPVTPLGTSRWRKISAALPY
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Position Chain Variation Link
38+dbSNP:
38+c, tdbSNP:11703711
90+c, tdbSNP:148141762
148+a, gdbSNP:34567417
234+dbSNP:
234+c, tdbSNP:147322774
235+a, gdbSNP:139289225
247+c, tdbSNP:34373276
253+a, gdbSNP:10854695
262+c, tdbSNP:139319252
270+c, tdbSNP:13057803
271+c, tdbSNP:149998137
274+a, gdbSNP:200822582
290+a, cdbSNP:200818199
293+a, gdbSNP:199943692
316+dbSNP:
316+a, gdbSNP:144239938
329+a, gdbSNP:148715332
351..352+, ccccdbSNP:144929792
356+c, tdbSNP:143532979
362+c, tdbSNP:183179978
412+c, tdbSNP:188209920
424+c, tdbSNP:35431748
438+a, cdbSNP:112306225
467+dbSNP:
467+a, gdbSNP:112273712
490+c, tdbSNP:34072404
537+dbSNP:
537+a, gdbSNP:9610595
568+c, tdbSNP:144105468
574+a, gdbSNP:199642717
635+c, tdbSNP:150976323
642+a, gdbSNP:35160112
662+dbSNP:
662+a, gdbSNP:150103256
788+dbSNP:
788+c, tdbSNP:138411102
789+a, gdbSNP:35355915
831+dbSNP:
831+c, tdbSNP:146911421
832+a, gdbSNP:190625962
854+a, gdbSNP:200068754
889+c, tdbSNP:150656826
919+c, tdbSNP:2072712
931+a, cdbSNP:147089818
974+a, gdbSNP:148129899
980+c, tdbSNP:141914454
992+c, tdbSNP:201021542
993+a, gdbSNP:150640467
999+c, tdbSNP:2075939
1023+c, gdbSNP:201017117
1087+c, tdbSNP:200848048
1122+c, gdbSNP:141940133
1140+c, tdbSNP:200504193
1181+a, cdbSNP:146292447
1182+c, gdbSNP:202038330
1187+c, gdbSNP:200347935
1228+c, tdbSNP:139432640
1242+a, gdbSNP:144124883
1254+dbSNP:
1254+g, tdbSNP:145005349
1255+c, tdbSNP:200598824
1291+c, tdbSNP:148661727
1308+a, tdbSNP:201317613
1315+c, gdbSNP:199500127
1326+a, gdbSNP:11552115
1336+a, gdbSNP:201552121
1340+a, cdbSNP:5995361
1341+a, gdbSNP:200914046
1352+a, gdbSNP:141160114
1363+g, tdbSNP:199618052
1369+a, cdbSNP:199686562
1370+c, tdbSNP:200966942
1389+c, tdbSNP:1858
1439+c, tdbSNP:147550660
1440+a, gdbSNP:28669668
1460..1461+, cdbSNP:36023462
1529..1530+, gdbSNP:34155264
1545+c, gdbSNP:182197208
1571+c, tdbSNP:186232557
Gene SymbolNCF4
Gene SynonymNCF; P40PHOX; SH3PXD4
Chromosome22
Locus Map22q13.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000631 Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA. Full Length $406.29
ORF Sequence $295.80
NM_013416 Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 2, mRNA. Full Length $477.34
ORF Sequence $303.63
Title Cutting edge: NADPH oxidase modulates MHC class II antigen presentation by B cells .
Author Crotzer,V.L., Matute,J.D., Arias,A.A., Zhao,H., Quilliam,L.A., Dinauer,M.C. and Blum,J.S.
Journal J. Immunol. 189 (8), 3800-3804 (2012)
Title Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort .
Author Eglinton,T.W., Roberts,R., Pearson,J., Barclay,M., Merriman,T.R., Frizelle,F.A. and Gearry,R.B.
Journal Am. J. Gastroenterol. 107 (4), 589-596 (2012)
Title Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis .
Author Paternoster,L., Standl,M., Chen,C.M., Ramasamy,A., Bonnelykke,K., Duijts,L., Ferreira,M.A., Alves,A.C., Thyssen,J.P., Albrecht,E., Baurecht,H., Feenstra,B., Sleiman,P.M., Hysi,P., Warrington,N.M., Curjuric,I., Myhre,R., Curtin,J.A., Groen-Blokhuis,M.M., Kerkhof,M., Saaf,A., Franke,A., Ellinghaus,D., Folster-Holst,R., Dermitzakis,E., Montgomery,S.B., Prokisch,H., Heim,K., Hartikainen,A.L., Pouta,A., Pekkanen,J., Blakemore,A.I., Buxton,J.L., Kaakinen,M., Duffy,D.L., Madden,P.A., Heath,A.C., Montgomery,G.W., Thompson,P.J., Matheson,M.C., Le Souef,P., St Pourcain,B., Smith,G.D., Henderson,J., Kemp,J.P., Timpson,N.J., Deloukas,P., Ring,S.M., Wichmann,H.E., Muller-Nurasyid,M., Novak,N., Klopp,N., Rodriguez,E., McArdle,W., Linneberg,A., Menne,T., Nohr,E.A., Hofman,A., Uitterlinden,A.G., van Duijn,C.M., Rivadeneira,F., de Jongste,J.C., van der Valk,R.J., Wjst,M., Jogi,R., Geller,F., Boyd,H.A., Murray,J.C., Kim,C., Mentch,F., March,M., Mangino,M., Spector,T.D., Bataille,V., Pennell,C.E., Holt,P.G., Sly,P., Tiesler,C.M., Thiering,E., Illig,T., Imboden,M., Nystad,W., Simpson,A., Hottenga,J.J., Postma,D., Koppelman,G.H., Smit,H.A., Soderhall,C., Chawes,B., Kreiner-Moller,E., Bisgaard,H., Melen,E., Boomsma,D.I., Custovic,A., Jacobsson,B., Probst-Hensch,N.M., Palmer,L.J., Glass,D., Hakonarson,H., Melbye,M., Jarvis,D.L., Jaddoe,V.W., Gieger,C., Strachan,D.P., Martin,N.G., Jarvelin,M.R., Heinrich,J., Evans,D.M. and Weidinger,S.
Journal Nat. Genet. 44 (2), 187-192 (2012)
Title Cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fcgamma receptor (FcgammaR)-mediated phagocytosis: mechanism for acquisition of p40(phox) phosphatidylinositol 3-phosphate (PI(3)P) binding .
Author Ueyama,T., Nakakita,J., Nakamura,T., Kobayashi,T., Kobayashi,T., Son,J., Sakuma,M., Sakaguchi,H., Leto,T.L. and Saito,N.
Journal J. Biol. Chem. 286 (47), 40693-40705 (2011)
Title Pre-B cell colony-enhancing factor (PBEF/Nampt/visfatin) primes neutrophils for augmented respiratory burst activity through partial assembly of the NADPH oxidase .
Author Malam,Z., Parodo,J., Waheed,F., Szaszi,K., Kapus,A. and Marshall,J.C.
Journal J. Immunol. 186 (11), 6474-6484 (2011)
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)

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