Gene/Proteome Database (LMPD)

LMPD ID
LMP006488
Gene ID
653361
Species
Homo sapiens (Human)
Gene Name
neutrophil cytosolic factor 1
Gene Symbol
NCF1
Synonyms
NCF1A; NOXO2; SH3PXD1A; p47phox
Alternate Names
neutrophil cytosol factor 1; NCF-1; NCF-47K; p47-phox; nox organizer 2; nox-organizing protein 2; NADPH oxidase organizer 2; 47 kDa neutrophil oxidase factor; neutrophil NADPH oxidase factor 1; SH3 and PX domain-containing protein 1A; 47 kDa autosomal chronic granulomatous disease protein; neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)
Chromosome
7
Map Location
7q11.23
Summary
The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for NCF1

Proteins

neutrophil cytosol factor 1
Refseq ID NP_000256
Protein GI 528078313
UniProt ID P14598
mRNA ID NM_000265
Length 390
RefSeq Status REVIEWED
MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPIEAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLMSLPTKISRCPHLLDFFKVRPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQTYRAIANYEKTSGSEMALSTGDVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPNYAGEPYVAIKAYTAVEGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPPRRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSKPQPAVPPRPSADLILNRCSESTKRKLASAV

Gene Information

Entrez Gene ID
653361
Gene Name
neutrophil cytosolic factor 1
Gene Symbol
NCF1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005829 IDA:UniProtKB C cytosol
GO:0030425 IEA:Ensembl C dendrite
GO:0019898 IDA:UniProtKB C extrinsic component of membrane
GO:0005794 IEA:Ensembl C Golgi apparatus
GO:0043020 IDA:UniProtKB C NADPH oxidase complex
GO:0043025 IEA:Ensembl C neuronal cell body
GO:0032010 TAS:Reactome C phagolysosome
GO:0005791 IEA:Ensembl C rough endoplasmic reticulum
GO:0009055 TAS:UniProtKB F electron carrier activity
GO:0043325 IDA:UniProtKB F phosphatidylinositol-3,4-bisphosphate binding
GO:0035091 IDA:UniProtKB F phosphatidylinositol binding
GO:0017124 IPI:BHF-UCL F SH3 domain binding
GO:0016175 IMP:UniProtKB F superoxide-generating NADPH oxidase activity
GO:0042590 TAS:Reactome P antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0002479 TAS:Reactome P antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002474 TAS:Reactome P antigen processing and presentation of peptide antigen via MHC class I
GO:0006915 IEA:Ensembl P apoptotic process
GO:0008283 IEA:Ensembl P cell proliferation
GO:0006968 TAS:ProtInc P cellular defense response
GO:0050665 IEA:Ensembl P hydrogen peroxide biosynthetic process
GO:0006954 IEA:Ensembl P inflammatory response
GO:0045087 TAS:BHF-UCL P innate immune response
GO:0051701 TAS:Reactome P interaction with host
GO:0006691 IEA:Ensembl P leukotriene metabolic process
GO:0045986 IEA:Ensembl P negative regulation of smooth muscle contraction
GO:0070947 IEA:Ensembl P neutrophil mediated killing of fungus
GO:0070946 IEA:Ensembl P neutrophil mediated killing of gram-positive bacterium
GO:0055114 IMP:GOC P oxidation-reduction process
GO:0090382 TAS:Reactome P phagosome maturation
GO:0006612 IDA:UniProtKB P protein targeting to membrane
GO:0045730 TAS:BHF-UCL P respiratory burst
GO:0002679 IEA:Ensembl P respiratory burst involved in defense response
GO:0001878 IEA:Ensembl P response to yeast
GO:0042554 IMP:UniProtKB P superoxide anion generation
GO:0006801 TAS:BHF-UCL P superoxide metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa05140 Leishmaniasis
hsa04380 Osteoclast differentiation
hsa04145 Phagosome

Domain Information

InterPro Annotations

Accession Description
IPR015039 NADPH oxidase subunit p47Phox, C-terminal
IPR001655 Neutrophil cytosol factor 1
IPR001683 Phox homologous domain
IPR001452 SH3_domain

UniProt Annotations

Entry Information

Gene Name
neutrophil cytosolic factor 1
Protein Entry
NCF1_HUMAN
UniProt ID
P14598
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14598-1; Sequence=Displayed; Name=2; IsoId=P14598-2; Sequence=VSP_035032, VSP_035033; Note=Due to intron retention.;
Disease Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM
Domain The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state.
Function NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO
Interaction Q8IZP0:ABI1; NbExp=5; IntAct=EBI-395044, EBI-375446; P60709:ACTB; NbExp=3; IntAct=EBI-395044, EBI-353944; P13498:CYBA; NbExp=7; IntAct=EBI-395044, EBI-986058; P04899:GNAI2; NbExp=2; IntAct=EBI-395044, EBI-353997; P19878:NCF2; NbExp=11; IntAct=EBI-395044, EBI-489611; Q15080:NCF4; NbExp=2; IntAct=EBI-395044, EBI-1036870;
Ptm Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity. {ECO
Sequence Caution Sequence=BAF84783.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAG54596.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Contains 1 PX (phox homology) domain.
Similarity Contains 2 SH3 domains. {ECO
Subcellular Location Cytoplasm, cytosol. Membrane; Peripheral membrane protein; Cytoplasmic side.
Subunit Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts (via C-terminus) with NCF2 (via the C-terminal SH3 domain). Interacts with NCF4. Interacts with CYBB. Interacts (via the second SH3 domain) with CYBA. Interacts with NOXA1. Interacts with ADAM15. Interacts with TRAF4. Interacts with FASLG. {ECO
Tissue Specificity Detected in peripheral blood monocytes and neutrophils (at protein level). {ECO
Web Resource Name=NCF1base; Note=NCF1 deficiency database; URL="http://bioinf.uta.fi/NCF1base/";

Identical and Related Proteins

Unique RefSeq proteins for LMP006488 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
528078313 RefSeq NP_000256 390 neutrophil cytosol factor 1

Identical Sequences to LMP006488 proteins

Reference Database Accession Length Protein Name
GI:528078313 DBBJ BAD96937.1 390 neutrophil cytosolic factor 1 variant, partial [Homo sapiens]
GI:528078313 DBBJ BAJ20521.1 390 neutrophil cytosolic factor 1, partial [synthetic construct]
GI:528078313 GenBank ABM84076.1 390 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) [synthetic construct]
GI:528078313 GenBank ABM87444.1 390 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1), partial [synthetic construct]
GI:528078313 GenBank ADQ32300.1 390 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1), partial [synthetic construct]
GI:528078313 GenBank AIC58325.1 390 NCF1, partial [synthetic construct]

Related Sequences to LMP006488 proteins

Reference Database Accession Length Protein Name
GI:528078313 GenBank AAH65731.1 390 Neutrophil cytosolic factor 1 [Homo sapiens]
GI:528078313 GenBank AAS07465.1 390 unknown [Homo sapiens]
GI:528078313 GenBank AAV38261.1 391 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1), partial [synthetic construct]
GI:528078313 GenBank AAX43114.1 391 neutrophil cytosolic factor 1, partial [synthetic construct]
GI:528078313 GenBank AFA56520.1 390 Sequence 19 from patent US 8088359
GI:528078313 SwissProt P14598.3 390 RecName: Full=Neutrophil cytosol factor 1; Short=NCF-1; AltName: Full=47 kDa autosomal chronic granulomatous disease protein; AltName: Full=47 kDa neutrophil oxidase factor; AltName: Full=NCF-47K; AltName: Full=Neutrophil NADPH oxidase factor 1; AltName: Full=Nox organizer 2; AltName: Full=Nox-organizing protein 2; AltName: Full=SH3 and PX domain-containing protein 1A; AltName: Full=p47-phox [Homo sapiens]