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Reviewed, UniProtKB/Swiss-Prot P14598 (NCF1_HUMAN)

Last modified July 7, 2009. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Neutrophil cytosol factor 1
      Short name=NCF-1
Alternative name(s):
    Neutrophil NADPH oxidase factor 1
    47 kDa neutrophil oxidase factor
    p47-phox
    NCF-47K
    47 kDa autosomal chronic granulomatous disease protein
    Nox-organizing protein 2
    Nox organizer 2
    SH3 and PX domain-containing protein 1A
Gene names
Name: NCF1
Synonyms: NOXO2, SH3PXD1A
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length390 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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).

Subunit structure

Interacts with NOXA1. Ref.16

Subcellular location

Cytoplasm.

Involvement in disease

Defects in NCF1 are the cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Ref.13 Ref.18

Sequence similarities

Contains 1 PX (phox homology) domain.

Contains 2 SH3 domains.

Binary interactions

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 390390Neutrophil cytosol factor 1
PRO_0000096762

Regions

Domain4 – 125122PX
Domain156 – 21560SH3 1
Domain226 – 28560SH3 2
Compositional bias211 – 25444Asp/Glu-rich (highly acidic)
Compositional bias292 – 39099Arg/Lys-rich (highly basic)

Amino acid modifications

Modified residue3031Phosphoserine Ref.15
Modified residue3041Phosphoserine Ref.15
Modified residue3201Phosphoserine Ref.15
Modified residue3281Phosphoserine Ref.15
Modified residue3451Phosphoserine Ref.15
Modified residue3481Phosphoserine Ref.15

Natural variations

Alternative sequence1931W → QTSHLTGLLPLVLRNPQPQA PCQGSGSLAPGRTPALLGAL NVLPTLWVAFCLSVHPVVAV GICAWQAGAGHVCVFCLDGY GTVCSL in isoform 2.
VSP_035032
Alternative sequence194 – 390197Missing in isoform 2.
VSP_035033
Natural variant421R → Q in CGD1. Ref.18
VAR_012476
Natural variant901R → H: dbSNP rs13447. Ref.10
VAR_014735
Natural variant991S → G Ref.10 Ref.11
VAR_018479
Natural variant1601T → S
VAR_012477
Natural variant1661D → N: dbSNP rs4868. Ref.10 Ref.11 Ref.8 Ref.9
VAR_012478
Natural variant2581K → E Ref.7
VAR_018476
Natural variant2621G → S Ref.18
VAR_012479
Natural variant3081A → V: dbSNP rs13739.
VAR_012480

Experimental info

Sequence conflict2001A → T in AAK19516. Ref.7

Secondary structure

....................................................... 390
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1992. Version 2.
Checksum: B11B256516F3AA9B

FASTA39044,683
        10         20         30         40         50         60 
MGDTFIRHIA LLGFEKRFVP SQHYVYMFLV KWQDLSEKVV YRRFTEIYEF HKTLKEMFPI 

        70         80         90        100        110        120 
EAGAINPENR IIPHLPAPKW FDGQRAAENR QGTLTEYCST LMSLPTKISR CPHLLDFFKV 

       130        140        150        160        170        180 
RPDDLKLPTD NQTKKPETYL MPKDGKSTAT DITGPIILQT YRAIADYEKT 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 

« Hide

Isoform 2.

Checksum: B8B940F5F5373E7B
Show »

FASTA27830,812

References

« Hide '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: 2550933] [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: 2547247] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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: 2398896] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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: 9329953] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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: 10772875] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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: 11740866] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT 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. expand/collapse author list , 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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASN-166.
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 ASN-166.
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. expand/collapse author list , 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: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS HIS-90; GLY-99 AND ASN-166.
[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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLY-99 AND ASN-166.
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. expand/collapse author list , 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: 7581362] [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: 2011585] [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.
[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: 8089108] [Abstract]
Cited for: PHOSPHORYLATION AT SER-303; SER-304; SER-320; SER-328; SER-345 AND SER-348.
[16]"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: 12716910] [Abstract]
Cited for: INTERACTION WITH NOXA1.
[17]"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: 11373621] [Abstract]
Cited for: STRUCTURE BY NMR OF 1-128.
[18]"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: 11133775] [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

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.
AC004883 Genomic DNA. No translation available.
AC083884 Genomic DNA. Translation: AAS07465.1.
AK127905 mRNA. Translation: BAG54596.1. Different initiation.
AK292094 mRNA. Translation: BAF84783.1. Different initiation.
AK223217 mRNA. Translation: BAD96937.1.
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.
IPIIPI00788186.
IPI00902858.
PIRA39249. A35926.
RefSeqNP_000256.3.
UniGeneHs.647047
Hs.655201

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
1GD5NMR-A1-128[»]
1K4UNMR-P359-390[»]
1KQ6X-ray1.18A1-141[»]
1NG2X-ray1.70A156-340[»]
1O7KX-ray2.00A/B/C1-123[»]
1OV3X-ray1.80A/B156-285[»]
1UECX-ray1.82A151-340[»]
1W70X-ray1.46C/D360-372[»]
1WLPNMR-B151-286[»]
ModBaseSearch...

Protein-protein interaction databases

DIPDIP:126N.
IntActP14598. 3 interactions.

PTM databases

PhosphoSiteP14598.

Proteomic databases

PRIDEP14598.

Genome annotation databases

EnsemblENSG00000165178. Homo sapiens. [Contig view]
GeneID653361.
KEGGhsa:653361.

Organism-specific databases

GeneCardsGC07P073826.
H-InvDBHIX0006771.
HIX0033553.
HGNCHGNC:7660. NCF1.
MIM233700. phenotype.
608512. gene.
Orphanet379. Granulomatous disease, chronic.
PharmGKBPA31463.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP14598.

Gene expression databases

GermOnlineENSG00000158517. Homo sapiens.

Family and domain databases

InterProIPR015039. NADPH_oxidase_p47Phox_C.
IPR001655. P47PHOX.
IPR001683. PX.
IPR001452. SH3_domain.
[Graphical view]
Gene3DG3DSA:3.30.1520.10. PX. 1 hit.
PANTHERPTHR15706:SF3. P47PHOX. 1 hit.
PfamPF08944. p47_phox_C. 1 hit.
PF00787. PX. 1 hit.
PF00018. SH3_1. 2 hits.
[Graphical view]
PRINTSPR00498. P47PHOX.
ProDomPD000066. SH3. 2 hits.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00312. PX. 1 hit.
SM00326. SH3. 2 hits.
[Graphical view]
PROSITEPS50195. PX. 1 hit.
PS50002. SH3. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio123127.
SOURCESearch...

Entry information

Entry nameNCF1_HUMAN
AccessionPrimary (citable) accession number: P14598
Secondary accession number(s): A6NEH2 expand/collapse secondary AC list , A8K7S9, O43842, Q2PP07, Q53FR5, Q9BU90, Q9BXI7, Q9BXI8, Q9UDV9, Q9UMU2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: May 1, 1992
Last modified: July 7, 2009
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents