P14598 (NCF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neutrophil cytosol factor 1
Short name=NCF-1

Alternative name(s):
47 kDa autosomal chronic granulomatous disease protein
47 kDa neutrophil oxidase factor
NCF-47K
Neutrophil NADPH oxidase factor 1
Nox organizer 2
Nox-organizing protein 2
SH3 and PX domain-containing protein 1A
p47-phox

Gene names

Name:	NCF1
Synonyms:	NOXO2, SH3PXD1A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	390 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). Ref.21
Subunit structure	Interacts with NOXA1. Interacts with ADAM15. Interacts with TRAF4. Interacts with FASLG. Ref.16 Ref.17 Ref.18 Ref.19 Ref.20
Subcellular location	Cytoplasm Ref.16.
Post-translational modification	Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity. Ref.15 Ref.21
Involvement in disease	Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.23
Sequence similarities	Contains 1 PX (phox homology) domain. Contains 2 SH3 domains.
Sequence caution	The sequence BAF84783.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAG54596.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Chronic granulomatous disease Disease mutation
Domain	Repeat SH3 domain
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Traceable author statement. Source: Reactome cell communication Inferred from electronic annotation. Source: InterPro cell proliferation Inferred from electronic annotation. Source: Compara cellular defense response Traceable author statement PubMed 2848318. Source: ProtInc hydrogen peroxide biosynthetic process Inferred from electronic annotation. Source: Compara inflammatory response Inferred from electronic annotation. Source: Compara innate immune response Traceable author statement PubMed 7938008. Source: BHF-UCL interaction with host Traceable author statement. Source: Reactome leukotriene metabolic process Inferred from electronic annotation. Source: Compara negative regulation of smooth muscle contraction Inferred from electronic annotation. Source: Compara neutrophil mediated killing of fungus Inferred from electronic annotation. Source: Compara neutrophil mediated killing of gram-positive bacterium Inferred from electronic annotation. Source: Compara phagosome maturation Traceable author statement. Source: Reactome protein targeting to membrane Inferred from direct assay PubMed 12356722. Source: UniProtKB respiratory burst Traceable author statement PubMed 7938008. Source: BHF-UCL respiratory burst involved in defense response Inferred from electronic annotation. Source: Compara response to yeast Inferred from electronic annotation. Source: Compara superoxide anion generation Traceable author statement PubMed 7938008. Source: BHF-UCL
Cellular_component	NADPH oxidase complex Traceable author statement PubMed 7938008. Source: BHF-UCL cytosol Traceable author statement. Source: Reactome phagolysosome Traceable author statement. Source: Reactome
Molecular_function	GTP binding Traceable author statement PubMed 2848318. Source: ProtInc GTPase activity Traceable author statement Ref.3. Source: ProtInc electron carrier activity Traceable author statement PubMed 2848318. Source: UniProtKB phosphatidylinositol binding Inferred from direct assay PubMed 12356722. Source: UniProtKB superoxide-generating NADPH oxidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ABI1	Q8IZP0	5	EBI-395044,EBI-375446
CYBA	P13498	6	EBI-395044,EBI-986058

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P14598-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P14598-2)

The sequence of this isoform differs from the canonical sequence as follows:
     193-193: W → QTSHLTGLLP...LDGYGTVCSL
     194-390: Missing.

Note: Due to intron retention.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 390

390

Neutrophil cytosol factor 1

PRO_0000096762

Regions

Domain

4 – 125

122

PX

Domain

156 – 215

60

SH3 1

Domain

226 – 285

60

SH3 2

Compositional bias

211 – 254

44

Asp/Glu-rich (highly acidic)

Compositional bias

292 – 390

99

Arg/Lys-rich (highly basic)

Amino acid modifications

Modified residue

303

1

Phosphoserine Ref.15

Modified residue

304

1

Phosphoserine Ref.15

Modified residue

320

1

Phosphoserine Ref.15

Modified residue

328

1

Phosphoserine Ref.15

Modified residue

345

1

Phosphoserine Ref.15

Modified residue

348

1

Phosphoserine Ref.15

Natural variations

Alternative sequence

193

1

W → QTSHLTGLLPLVLRNPQPQA PCQGSGSLAPGRTPALLGAL NVLPTLWVAFCLSVHPVVAV GICAWQAGAGHVCVFCLDGY GTVCSL in isoform 2.

VSP_035032

Alternative sequence

194 – 390

197

Missing in isoform 2.

VSP_035033

Natural variant

42

1

R → Q in CGD1. Ref.23

VAR_012476

Natural variant

90

1

R → H.
Corresponds to variant rs13447 [ dbSNP | Ensembl ].

VAR_014735

Natural variant

99

1

G → S. Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.11
Corresponds to variant rs17856077 [ dbSNP | Ensembl ].

VAR_018479

Natural variant

160

1

T → S.

VAR_012477

Natural variant

166

1

N → D. Ref.3 Ref.4 Ref.7 Ref.14
Corresponds to variant rs4868 [ dbSNP | Ensembl ].

VAR_012478

Natural variant

258

1

K → E. Ref.7

VAR_018476

Natural variant

262

1

G → S. Ref.23

VAR_012479

Natural variant

308

1

A → V.
Corresponds to variant rs13739 [ dbSNP | Ensembl ].

VAR_012480

Experimental info

Sequence conflict

200

1

A → T in AAK19516. Ref.7

Secondary structure

1

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390

Helix Strand Turn

Details...

Beta strand

6 – 17

12

Beta strand

19 – 21

3

Beta strand

23 – 32

10

Beta strand

37 – 42

6

Helix

44 – 57

14

Turn

59 – 63

5

Helix

67 – 69

3

Helix

78 – 80

3

Helix

84 – 101

18

Helix

106 – 109

4

Helix

112 – 118

7

Helix

122 – 125

4

Beta strand

137 – 140

4

Beta strand

153 – 155

3

Beta strand

159 – 162

4

Beta strand

171 – 174

4

Beta strand

182 – 187

6

Beta strand

195 – 198

4

Beta strand

202 – 206

5

Helix

207 – 209

3

Beta strand

210 – 214

5

Beta strand

229 – 235

7

Beta strand

241 – 244

4

Beta strand

252 – 257

6

Beta strand

262 – 268

7

Beta strand

271 – 276

6

Helix

277 – 279

3

Beta strand

280 – 282

3

Helix

287 – 292

6

Helix

302 – 304

3

Helix

321 – 328

8

Helix

371 – 376

6

Helix

380 – 385

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 8, 2011. Version 3. Checksum: 5A0F9F0EF101D2DB	FASTA	390	44,652
	10 20 30 40 50 60 MGDTFIRHIA LLGFEKRFVP SQHYVYMFLV KWQDLSEKVV YRRFTEIYEF HKTLKEMFPI 70 80 90 100 110 120 EAGAINPENR IIPHLPAPKW FDGQRAAENR QGTLTEYCGT LMSLPTKISR CPHLLDFFKV 130 140 150 160 170 180 RPDDLKLPTD NQTKKPETYL MPKDGKSTAT DITGPIILQT YRAIANYEKT SGSEMALSTG 190 200 210 220 230 240 DVVEVVEKSE SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAGEP YVAIKAYTAV 250 260 270 280 290 300 EGDEVSLLEG EAVEVIHKLL DGWWVIRKDD VTGYFPSMYL QKSGQDVSQA QRQIKRGAPP 310 320 330 340 350 360 RRSSIRNAHS IHQRSRKRLS QDAYRRNSVR FLQQRRRQAR PGPQSPGSPL EEERQTQRSK 370 380 390 PQPAVPPRPS ADLILNRCSE STKRKLASAV
	Isoform 2 [UniParc]. Checksum: AB0F8221EE55FCAF	FASTA	278	30,781
	10 20 30 40 50 60 MGDTFIRHIA LLGFEKRFVP SQHYVYMFLV KWQDLSEKVV YRRFTEIYEF HKTLKEMFPI 70 80 90 100 110 120 EAGAINPENR IIPHLPAPKW FDGQRAAENR QGTLTEYCGT LMSLPTKISR CPHLLDFFKV 130 140 150 160 170 180 RPDDLKLPTD NQTKKPETYL MPKDGKSTAT DITGPIILQT YRAIANYEKT SGSEMALSTG 190 200 210 220 230 240 DVVEVVEKSE SGQTSHLTGL LPLVLRNPQP QAPCQGSGSL APGRTPALLG ALNVLPTLWV 250 260 270 AFCLSVHPVV AVGICAWQAG AGHVCVFCLD GYGTVCSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase." Volpp B.D., Nauseef W.M., Clark R.A. Proc. Natl. Acad. Sci. U.S.A. 86:7195-7199(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	Erratum Volpp B.D., Nauseef W.M., Clark R.A. Proc. Natl. Acad. Sci. U.S.A. 86:9563-9563(1989) Cited for: SEQUENCE REVISION.
[3]	"Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease." Lomax K.J., Leto T.L., Nunoi H., Gallin J.I., Malech H.L. Science 245:409-412(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-99 AND ASP-166.
[4]	"Characterization of the 47-kilodalton autosomal chronic granulomatous disease protein: tissue-specific expression and transcriptional control by retinoic acid." Rodaway A.R.F., Teahan C.G., Casimir C.M., Segal A.W., Bentley D.L. Mol. Cell. Biol. 10:5388-5396(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-99 AND ASP-166.
[5]	"A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease." Gorlach A., Lee P.L., Roesler J., Hopkins P.J., Christensen B., Green E.D., Chanock S.J., Curnutte J.T. J. Clin. Invest. 100:1907-1918(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-99.
[6]	"Genomic structure of the human p47-phox (NCF1) gene." Chanock S.J., Roesler J., Zhan S., Hopkins P., Lee P., Barrett D.T., Christensen B.L., Curnutte J.T., Goerlach A. Blood Cells Mol. Dis. 26:37-46(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-99.
[7]	"TNFalpha activates c-jun amino terminal kinase through p47(phox)." Gu Y., Xu Y.C., Wu R.F., Souza R.F., Nwariaku F.E., Terada L.S. Exp. Cell Res. 272:62-74(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-99; ASP-166 AND GLU-258. Tissue: Umbilical vein.
[8]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-99. Tissue: Spleen and Synovium.
[9]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-99. Tissue: Spleen.
[10]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-99. Tissue: Lymph.
[12]	"Comparison of the positional cloning methods used to isolate the BRCA1 gene." Harshman K., Bell R., Rosenthal J., Katcher H., Miki Y., Swenson J., Gholami Z., Frye C., Ding W., Dayananth P., Eddington K., Norris F.H., Bristow P.K., Phelps R., Hattier T., Stone S., Shaffer D., Bayer S. , Hussey C., Tran T., Lai M., Rosteck P.R. Jr., Skolnick M.H., Shattuck-Eidens D., Kamb A. Hum. Mol. Genet. 4:1259-1266(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-31 (ISOFORM 1). Tissue: Ovary.
[13]	"Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat." Casimir C.M., Bu-Ghanim H.N., Rodaway A.R., Bentley D.L., Rowe P., Segal A.W. Proc. Natl. Acad. Sci. U.S.A. 88:2753-2757(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 14-24, INVOLVEMENT IN CHRONIC GRANULOMATOUS DISEASE.
[14]	NHLBI resequencing and genotyping service (RS&G) Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 133-390, VARIANT ASP-166.
[15]	"The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases." el Benna J., Faust L.P., Babior B.M. J. Biol. Chem. 269:23431-23436(1994) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-303; SER-304; SER-320; SER-328; SER-345 AND SER-348.
[16]	"Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase." Xu Y.C., Wu R.F., Gu Y., Yang Y.S., Yang M.C., Nwariaku F.E., Terada L.S. J. Biol. Chem. 277:28051-28057(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH TRAF4, SUBCELLULAR LOCATION.
[17]	"Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases." Takeya R., Ueno N., Kami K., Taura M., Kohjima M., Izaki T., Nunoi H., Sumimoto H. J. Biol. Chem. 278:25234-25246(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NOXA1.
[18]	"TRAF4 acts as a silencer in TLR-mediated signaling through the association with TRAF6 and TRIF." Takeshita F., Ishii K.J., Kobiyama K., Kojima Y., Coban C., Sasaki S., Ishii N., Klinman D.M., Okuda K., Akira S., Suzuki K. Eur. J. Immunol. 35:2477-2485(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH TRAF4.
[19]	"Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening." Voss M., Lettau M., Janssen O. BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FASLG.
[20]	"Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins." Kleino I., Ortiz R.M., Yritys M., Huovila A.P., Saksela K. J. Cell. Biochem. 108:877-885(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH ADAM15.
[21]	"Regulation of TNF-induced oxygen radical production in human neutrophils: role of delta-PKC." Kilpatrick L.E., Sun S., Li H., Vary T.C., Korchak H.M. J. Leukoc. Biol. 87:153-164(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION.
[22]	"Solution structure of the PX domain, a target of the SH3 domain." Hiroaki H., Ago T., Ito T., Sumimoto H., Kohda D. Nat. Struct. Biol. 8:526-530(2001) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 1-128.
[23]	"Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes." Noack D., Rae J., Cross A.R., Ellis B.A., Newburger P.E., Curnutte J.T., Heyworth P.G. Blood 97:305-311(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CGD1 GLN-42, VARIANT SER-262.
+	Additional computationally mapped references.

Web resources

NCF1base

NCF1 deficiency database

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M25665 mRNA. Translation: AAA57209.1.
M55067 mRNA. Translation: AAA59901.1.
U57835, U57833, U57834 Genomic DNA. Translation: AAB95193.1.
AF184614 Genomic DNA. Translation: AAF34737.1.
AF330625 mRNA. Translation: AAK19516.1.
AF330626 mRNA. Translation: AAK19517.1.
AF330627 mRNA. Translation: AAK19518.1.
AK127905 mRNA. Translation: BAG54596.1. Different initiation.
AK292094 mRNA. Translation: BAF84783.1. Different initiation.
AK223217 mRNA. Translation: BAD96937.1.
AC004883 Genomic DNA. No translation available.
AC083884 Genomic DNA. Translation: AAS07465.1.
AC124781 Genomic DNA. No translation available.
BC002816 mRNA. Translation: AAH02816.1.
BC065731 mRNA. Translation: AAH65731.1.
U25793 mRNA. Translation: AAA93232.1.
DQ314878 Genomic DNA. Translation: ABC40737.1.

IPI

IPI00788186.
IPI00902858.

PIR

A39249. A35926.

RefSeq

NP_000256.3. NM_000265.4.

UniGene

Hs.647047.
Hs.655201.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1GD5	NMR	-	A	1-128	[»]
1K4U	NMR	-	P	359-390	[»]
1KQ6	X-ray	1.18	A	1-141	[»]
1NG2	X-ray	1.70	A	156-340	[»]
1O7K	X-ray	2.00	A/B/C	1-123	[»]
1OV3	X-ray	1.80	A/B	156-285	[»]
1UEC	X-ray	1.82	A	151-340	[»]
1W70	X-ray	1.46	C/D	360-372	[»]
1WLP	NMR	-	B	151-286	[»]

ProteinModelPortal

P14598.

SMR

P14598. Positions 2-141, 157-332, 359-390.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-126N.

IntAct

P14598. 4 interactions.

MINT

MINT-139338.

PTM databases

PhosphoSite

P14598.

Polymorphism databases

DMDM

127946.

Proteomic databases

PaxDb

P14598.

PRIDE

P14598.

Protocols and materials databases

DNASU

653361.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000289473; ENSP00000289473; ENSG00000158517.
ENST00000573351; ENSP00000459675; ENSG00000261919.

GeneID

653361.

KEGG

hsa:653361.

UCSC

uc003ubb.3. human.
uc010lbs.1. human.

Organism-specific databases

CTD

653361.

GeneCards

GC07P074188.

H-InvDB

HIX0033553.

HGNC

HGNC:7660. NCF1.

HPA

CAB004524.

MIM

233700. phenotype.
608512. gene.

neXtProt

NX_P14598.

Orphanet

379. Chronic granulomatous disease.

PharmGKB

PA31463.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG326975.

HOVERGEN

HBG002055.

InParanoid

P14598.

KO

K08011.

OMA

IHQRSRK.

OrthoDB

EOG48PMKD.

PhylomeDB

P14598.

Enzyme and pathway databases

Reactome

REACT_116125. Disease.
REACT_6900. Immune System.

Gene expression databases

ArrayExpress

P14598.

Bgee

P14598.

Genevestigator

P14598.

GermOnline

ENSG00000158517. Homo sapiens.

Family and domain databases

Gene3D

3.30.1520.10. 1 hit.

InterPro

IPR015039. NADPH_oxidase_p47Phox_C.
IPR001655. P47PHOX.
IPR001683. Phox.
IPR001452. SH3_domain.
[Graphical view]

PANTHER

PTHR15706:SF3. PTHR15706:SF3. 1 hit.

Pfam

PF08944. p47_phox_C. 1 hit.
PF00787. PX. 1 hit.
PF00018. SH3_1. 2 hits.
[Graphical view]

PRINTS

PR00498. P47PHOX.

SMART

SM00312. PX. 1 hit.
SM00326. SH3. 2 hits.
[Graphical view]

SUPFAM

SSF64268. PX. 1 hit.
SSF50044. SH3. 2 hits.

PROSITE

PS50195. PX. 1 hit.
PS50002. SH3. 2 hits.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

P14598.

ChEMBL

CHEMBL1613743.

EvolutionaryTrace

P14598.

GenomeRNAi

653361.

NextBio

123127.

SOURCE

Search...

Entry information

Entry name

NCF1_HUMAN

Accession

Primary (citable) accession number: P14598
Secondary accession number(s): A6NEH2 , A8K7S9, O43842, Q2PP07, Q53FR5, Q9BU90, Q9BXI7, Q9BXI8, Q9UDV9, Q9UMU2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	March 8, 2011
Last modified:	May 1, 2013
This is version 164 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.