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UniProtKB - P14598 (NCF1_HUMAN)

Entry version 239 (02 Dec 2020)
Sequence version 4 (25 Apr 2018)
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Protein

Neutrophil cytosol factor 1

Gene

NCF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandLipid-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P14598

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1222556, ROS and RNS production in phagocytes
R-HSA-1236973, Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-3299685, Detoxification of Reactive Oxygen Species
R-HSA-4420097, VEGFA-VEGFR2 Pathway
R-HSA-5668599, RHO GTPases Activate NADPH Oxidases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P14598

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NCF1
Synonyms:NOXO2, SH3PXD1A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000158517.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:7660, NCF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608512, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P14598

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01247642R → Q in CGD1. 1 PublicationCorresponds to variant dbSNP:rs119103270EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi43R → Q: Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate. 1 Publication1
Mutagenesisi90R → A: Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate. 1
Mutagenesisi263W → R: Abolishes autoinhibition and promotes phospholipid binding. 1 Publication1
Mutagenesisi303S → E: Abolishes autoinhibition and promotes phospholipid binding; when associated with E-304; E-328; E-359 and E-370. 1 Publication1
Mutagenesisi304S → E: Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-328; E-359 and E-370. 1 Publication1
Mutagenesisi328S → E: Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-359 and E-370. 1 Publication1
Mutagenesisi359S → E: Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-370. 1 Publication1
Mutagenesisi370S → E: Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-359. 1 Publication1

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		653361

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NCF1

MalaCards human disease database

More...MalaCardsi		NCF1
MIMi233700, phenotype

Open Targets

More...OpenTargetsi		ENSG00000158517

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		379, Chronic granulomatous disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31463

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P14598, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00514, Dextromethorphan

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NCF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		325511390

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000967621 – 390Neutrophil cytosol factor 1Add BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei303Phosphoserine1 Publication1
Modified residuei304Phosphoserine1 Publication1
Modified residuei320Phosphoserine1 Publication1
Modified residuei328Phosphoserine1 Publication1
Modified residuei345Phosphoserine1 Publication1
Modified residuei348Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P14598

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P14598

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P14598

PeptideAtlas

More...PeptideAtlasi		P14598

PRoteomics IDEntifications database

More...PRIDEi		P14598

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		53060 [P14598-1]
53061 [P14598-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P14598

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P14598

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in peripheral blood monocytes and neutrophils (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000158517, Expressed in blood and 112 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P14598, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P14598, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000158517, Group enriched (blood, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.

Interacts with PARK7 (via C-terminus); the interaction is enhanced by LPS and modulates NCF1 phosphorylation and membrane translocation (By similarity).

By similarity11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		575724, 73 interactors

Database of interacting proteins

More...DIPi		DIP-126N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P14598

Protein interaction database and analysis system

More...IntActi		P14598, 57 interactors

Molecular INTeraction database

More...MINTi		P14598

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000289473

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P14598, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1390
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P14598

Small Angle Scattering Biological Data Bank

More...SASBDBi		P14598

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P14598

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P14598

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini4 – 125PXPROSITE-ProRule annotationAdd BLAST122
Domaini156 – 215SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini226 – 285SH3 2PROSITE-ProRule annotationAdd BLAST60

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi211 – 254Asp/Glu-rich (highly acidic)Add BLAST44
Compositional biasi292 – 390Arg/Lys-rich (highly basic)Add BLAST99

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.2 Publications

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4773, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160014

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_030529_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P14598

Identification of Orthologs from Complete Genome Data

More...OMAi		WWFCQLK

Database of Orthologous Groups

More...OrthoDBi		1183210at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P14598

TreeFam database of animal gene trees

More...TreeFami		TF329347

Family and domain databases

Conserved Domains Database

More...CDDi		cd06887, PX_p47phox, 1 hit
cd12021, SH3_p47phox_1, 1 hit
cd12022, SH3_p47phox_2, 1 hit

Database of protein disorder

More...DisProti		DP02254

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1520.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00597

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015039, NADPH_oxidase_p47Phox_C
IPR035756, NCF1_SH3_1
IPR035757, NCF1_SH3_2
IPR032136, NECFESHC
IPR001655, P47PHOX
IPR001683, PX_dom
IPR036871, PX_dom_sf
IPR034909, PX_p47phox
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

The PANTHER Classification System

More...PANTHERi		PTHR15706:SF6, PTHR15706:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16621, NECFESHC, 1 hit
PF08944, p47_phox_C, 1 hit
PF00787, PX, 1 hit
PF00018, SH3_1, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00498, P47PHOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00312, PX, 1 hit
SM00326, SH3, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50044, SSF50044, 2 hits
SSF64268, SSF64268, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50195, PX, 1 hit
PS50002, SH3, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P14598-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGDTFIRHIA LLGFEKRFVP SQHYVYMFLV KWQDLSEKVV YRRFTEIYEF 
        60         70         80         90        100
HKTLKEMFPI EAGAINPENR IIPHLPAPKW FDGQRAAENR QGTLTEYCST 
       110        120        130        140        150
LMSLPTKISR CPHLLDFFKV RPDDLKLPTD NQTKKPETYL MPKDGKSTAT 
       160        170        180        190        200
DITGPIILQT YRAIANYEKT SGSEMALSTG DVVEVVEKSE SGWWFCQMKA 
       210        220        230        240        250
KRGWIPASFL EPLDSPDETE DPEPNYAGEP YVAIKAYTAV EGDEVSLLEG 
       260        270        280        290        300
EAVEVIHKLL DGWWVIRKDD VTGYFPSMYL QKSGQDVSQA QRQIKRGAPP 
       310        320        330        340        350
RRSSIRNAHS IHQRSRKRLS QDAYRRNSVR FLQQRRRQAR PGPQSPGSPL 
       360        370        380        390
EEERQTQRSK PQPAVPPRPS ADLILNRCSE STKRKLASAV
Length:390
Mass (Da):44,682
Last modified:April 25, 2018 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3D91EDC99A1B6417
GO
Isoform 2 (identifier: P14598-2) [UniParc]FASTAAdd to basket

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.Curated
Show »
Length:278
Mass (Da):30,811
Checksum:iEF0F962E9881E8A0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X1W0A0A087X1W0_HUMAN
Neutrophil cytosol factor 1
NCF1
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J155C9J155_HUMAN
Neutrophil cytosol factor 1
NCF1
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1S1H7C1S1_HUMAN
Neutrophil cytosol factor 1
NCF1
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAF84783 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG54596 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti200A → T in AAK19516 (PubMed:11740866).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01247642R → Q in CGD1. 1 PublicationCorresponds to variant dbSNP:rs119103270EnsemblClinVar.1
Natural variantiVAR_01473590R → H Polymorphism; may influence susceptibility to systemic lupus erythematosus. 1 PublicationCorresponds to variant dbSNP:rs13447Ensembl.1
Natural variantiVAR_01847999S → G2 PublicationsCorresponds to variant dbSNP:rs10614Ensembl.1
Natural variantiVAR_012477160T → S2 Publications1
Natural variantiVAR_012478166N → D4 PublicationsCorresponds to variant dbSNP:rs782555266Ensembl.1
Natural variantiVAR_018476258K → E1 Publication1
Natural variantiVAR_012479262G → S1 PublicationCorresponds to variant dbSNP:rs1489201208Ensembl.1
Natural variantiVAR_012480308A → V2 PublicationsCorresponds to variant dbSNP:rs13739Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_035032193W → QTSHLTGLLPLVLRNPQPQA PCQGSGSLAPGRTPALLGAL NVLPTLWVAFCLSVHPVVAV GICAWQAGAGHVCVFCLDGY GTVCSL in isoform 2. 1 Publication1
Alternative sequenceiVSP_035033194 – 390Missing in isoform 2. 1 PublicationAdd BLAST197

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M25665 mRNA Translation: AAA57209.1
M55067 mRNA Translation: AAA59901.1
AH005796 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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34657.1 [P14598-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A35926, A39249

NCBI Reference Sequences

More...RefSeqi		NP_000256.4, NM_000265.5 [P14598-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000289473; ENSP00000289473; ENSG00000158517 [P14598-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		653361

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:653361

UCSC genome browser

More...UCSCi		uc003ubb.5, human [P14598-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NCF1base

NCF1 deficiency database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M25665 mRNA Translation: AAA57209.1
M55067 mRNA Translation: AAA59901.1
AH005796 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
CCDSiCCDS34657.1 [P14598-1]
PIRiA35926, A39249
RefSeqiNP_000256.4, NM_000265.5 [P14598-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB 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[»]
BMRBiP14598
SASBDBiP14598
SMRiP14598
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi575724, 73 interactors
DIPiDIP-126N
ELMiP14598
IntActiP14598, 57 interactors
MINTiP14598
STRINGi9606.ENSP00000289473

Chemistry databases

DrugBankiDB00514, Dextromethorphan

PTM databases

iPTMnetiP14598
PhosphoSitePlusiP14598

Polymorphism and mutation databases

BioMutaiNCF1
DMDMi325511390

Proteomic databases

jPOSTiP14598
MassIVEiP14598
PaxDbiP14598
PeptideAtlasiP14598
PRIDEiP14598
ProteomicsDBi53060 [P14598-1]
53061 [P14598-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3863, 886 antibodies

The DNASU plasmid repository

More...DNASUi		653361

Genome annotation databases

EnsembliENST00000289473; ENSP00000289473; ENSG00000158517 [P14598-1]
GeneIDi653361
KEGGihsa:653361
UCSCiuc003ubb.5, human [P14598-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		653361
DisGeNETi653361
EuPathDBiHostDB:ENSG00000158517.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		NCF1
GeneReviewsiNCF1
HGNCiHGNC:7660, NCF1
HPAiENSG00000158517, Group enriched (blood, lymphoid tissue)
MalaCardsiNCF1
MIMi233700, phenotype
608512, gene
neXtProtiNX_P14598
OpenTargetsiENSG00000158517
Orphaneti379, Chronic granulomatous disease
PharmGKBiPA31463

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4773, Eukaryota
GeneTreeiENSGT00940000160014
HOGENOMiCLU_030529_0_0_1
InParanoidiP14598
OMAiWWFCQLK
OrthoDBi1183210at2759
PhylomeDBiP14598
TreeFamiTF329347

Enzyme and pathway databases

PathwayCommonsiP14598
ReactomeiR-HSA-1222556, ROS and RNS production in phagocytes
R-HSA-1236973, Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-3299685, Detoxification of Reactive Oxygen Species
R-HSA-4420097, VEGFA-VEGFR2 Pathway
R-HSA-5668599, RHO GTPases Activate NADPH Oxidases
SIGNORiP14598

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		653361, 34 hits in 840 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NCF1, human
EvolutionaryTraceiP14598

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Neutrophil_cytosolic_factor_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		653361
PharosiP14598, Tbio

Protein Ontology

More...PROi		PR:P14598
RNActiP14598, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000158517, Expressed in blood and 112 other tissues
ExpressionAtlasiP14598, baseline and differential
GenevisibleiP14598, HS

Family and domain databases

CDDicd06887, PX_p47phox, 1 hit
cd12021, SH3_p47phox_1, 1 hit
cd12022, SH3_p47phox_2, 1 hit
DisProtiDP02254
Gene3Di3.30.1520.10, 1 hit
IDEALiIID00597
InterProiView protein in InterPro
IPR015039, NADPH_oxidase_p47Phox_C
IPR035756, NCF1_SH3_1
IPR035757, NCF1_SH3_2
IPR032136, NECFESHC
IPR001655, P47PHOX
IPR001683, PX_dom
IPR036871, PX_dom_sf
IPR034909, PX_p47phox
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PANTHERiPTHR15706:SF6, PTHR15706:SF6, 1 hit
PfamiView protein in Pfam
PF16621, NECFESHC, 1 hit
PF08944, p47_phox_C, 1 hit
PF00787, PX, 1 hit
PF00018, SH3_1, 2 hits
PRINTSiPR00498, P47PHOX
SMARTiView protein in SMART
SM00312, PX, 1 hit
SM00326, SH3, 2 hits
SUPFAMiSSF50044, SSF50044, 2 hits
SSF64268, SSF64268, 1 hit
PROSITEiView protein in PROSITE
PS50195, PX, 1 hit
PS50002, SH3, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNCF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P14598
Secondary accession number(s): A6NEH2
, A8K7S9, O43842, Q2PP07, Q53FR5, Q9BU90, Q9BXI7, Q9BXI8, Q9UDV9, Q9UMU2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 25, 2018
Last modified: December 2, 2020
This is version 239 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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