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] See more...

Aliases for NCF1 Gene

Aliases for NCF1 Gene

  • Neutrophil Cytosolic Factor 1 2 3 5
  • SH3PXD1A 2 3 4
  • NOXO2 2 3 4
  • 47 KDa Autosomal Chronic Granulomatous Disease Protein 3 4
  • SH3 And PX Domain-Containing Protein 1A 3 4
  • Neutrophil NADPH Oxidase Factor 1 3 4
  • 47 KDa Neutrophil Oxidase Factor 3 4
  • Neutrophil Cytosol Factor 1 3 4
  • NADPH Oxidase Organizer 2 2 3
  • Nox-Organizing Protein 2 3 4
  • Nox Organizer 2 3 4
  • P47-Phox 3 4
  • P47phox 2 3
  • NCF-47K 3 4
  • NCF1A 2 3
  • NCF-1 3 4
  • Neutrophil Cytosolic Factor 1 (47kD, Chronic Granulomatous Disease, Autosomal 1) 2
  • Neutrophil Cytosolic Factor 1, (Chronic Granulomatous Disease, Autosomal 1) 3
  • Chronic Granulomatous Disease, Autosomal 1 2
  • CGD1 3
  • NCF1 5

External Ids for NCF1 Gene

Previous GeneCards Identifiers for NCF1 Gene

  • GC07P073118
  • GC07M073970
  • GC07M073985
  • GC07M073986
  • GC07M074018
  • GC07P073826
  • GC07P074188
  • GC07P073521

Summaries for NCF1 Gene

Entrez Gene Summary for NCF1 Gene

  • 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]

GeneCards Summary for NCF1 Gene

NCF1 (Neutrophil Cytosolic Factor 1) is a Protein Coding gene. Diseases associated with NCF1 include Granulomatous Disease, Chronic, Autosomal Recessive, 1 and Chronic Granulomatous Disease. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and phosphatidylinositol binding. An important paralog of this gene is SH3PXD2A.

UniProtKB/Swiss-Prot Summary for NCF1 Gene

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

Gene Wiki entry for NCF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCF1 Gene

Genomics for NCF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NCF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J074773 Promoter 0.7 EPDnew Ensembl 250.7 +1.0 1039 2.8 NCF1 HSALNG0058933 RF00017-6347 GTF2IRD2 RF00017-6348
GH07J074653 Promoter/Enhancer 2.3 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 0.1 -114.6 -114631 11.3 CHD2 TBP ZBTB10 BCL11A MXD4 CEBPA SIX5 NR2C1 MNT DEK GTF2I NONHSAG047965.2 STAG3L2 LIMK1 STX1A CLIP2 PMS2P3 PMS2P2 PMS2P5 SPDYE12P
GH07J074798 Enhancer 0.8 Ensembl ENCODE 0.3 +25.7 25696 3.9 IKZF1 ZEB2 TAL1 SMARCA4 HDAC2 SMARCE1 ZNF189 TCF12 EGR1 RFX1 NONHSAG047983.2-002 piR-51671-074 NCF1 RF00017-6347 GTF2IRD2 RF00017-6348
GH07J074850 Promoter/Enhancer 1.4 EPDnew Ensembl dbSUPER 0.2 +76.8 76839 3.6 NR2C1 ELF1 GABPB1 SP2 DDX20 BHLHE40 MAZ PKNOX1 IKZF1 NFYC GTF2IRD2 RF00017-6347 RF00017-6348 STAG3L2 NCF1
GH07J074787 Enhancer 0.6 ENCODE 0.4 +14.8 14820 0.2 ZNF341 SP2 MAZ ZNF189 NRF1 NR2F1 HDGF CTCF SP3 ZBTB17 piR-51671-074 NCF1 NONHSAG047983.2-002 RF00017-6347 GTF2IRD2 RF00017-6348
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCF1

Top Transcription factor binding sites by QIAGEN in the NCF1 gene promoter:
  • aMEF-2
  • c-Rel
  • LCR-F1
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • p53
  • PPAR-gamma1

Genomic Locations for NCF1 Gene

Latest Assembly
chr7:74,773,962-74,789,376
(GRCh38/hg38)
Size:
15,415 bases
Orientation:
Plus strand

Previous Assembly
chr7:74,188,309-74,203,720
(GRCh37/hg19 by Entrez Gene)
Size:
15,412 bases
Orientation:
Plus strand

chr7:74,188,309-74,203,659
(GRCh37/hg19 by Ensembl)
Size:
15,351 bases
Orientation:
Plus strand

Genomic View for NCF1 Gene

Genes around NCF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF1 Gene

Proteins for NCF1 Gene

  • Protein details for NCF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14598-NCF1_HUMAN
    Recommended name:
    Neutrophil cytosol factor 1
    Protein Accession:
    P14598
    Secondary Accessions:
    • A6NEH2
    • A8K7S9
    • O43842
    • Q2PP07
    • Q53FR5
    • Q9BU90
    • Q9BXI7
    • Q9BXI8
    • Q9UDV9
    • Q9UMU2

    Protein attributes for NCF1 Gene

    Size:
    390 amino acids
    Molecular mass:
    44682 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAF84783.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG54596.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Due to intron retention.

    Three dimensional structures from OCA and Proteopedia for NCF1 Gene

    Alternative splice isoforms for NCF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF1 Gene

Post-translational modifications for NCF1 Gene

  • Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF1 Gene

Antibodies for research

No data available for DME Specific Peptides for NCF1 Gene

Domains & Families for NCF1 Gene

Gene Families for NCF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NCF1 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Phox-like
  • Neutrophil cytosol factor 1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for NCF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79240, moderately similar to Neutrophil cytosol factor 1 (B7ZAM6_HUMAN)
  • p47-phox (NCF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14598

UniProtKB/Swiss-Prot:

NCF1_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with NCF1: view

Function for NCF1 Gene

Molecular function for NCF1 Gene

UniProtKB/Swiss-Prot Function:
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
GENATLAS Biochemistry:
neutrophil cytosolic factor 1 (component of NADPH oxidase system),p47-phox (NCF1),oxygen dependent mechanism of phagocytosis

Phenotypes From GWAS Catalog for NCF1 Gene

Gene Ontology (GO) - Molecular Function for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8280052
GO:0008289 lipid binding IEA --
GO:0009055 electron transfer activity TAS 2848318
GO:0016175 superoxide-generating NADPH oxidase activity IEA,IMP 2547247
GO:0016176 superoxide-generating NADPH oxidase activator activity IBA 21873635
genes like me logo Genes that share ontologies with NCF1: view
genes like me logo Genes that share phenotypes with NCF1: view

Human Phenotype Ontology for NCF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NCF1 Gene

MGI Knock Outs for NCF1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NCF1 Gene

Localization for NCF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF1 Gene

Cytoplasm, cytosol. Membrane. Peripheral membrane protein. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCF1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 4
extracellular 3
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
golgi apparatus 3
cytoskeleton 2
peroxisome 2
endosome 2

Gene Ontology (GO) - Cellular Components for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 26514923
genes like me logo Genes that share ontologies with NCF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NCF1 Gene

Pathways & Interactions for NCF1 Gene

genes like me logo Genes that share pathways with NCF1: view

Pathways by source for NCF1 Gene

4 GeneGo (Thomson Reuters) pathways for NCF1 Gene
  • G-protein signaling RAC1 in cellular process
  • G-protein signaling_Rac2 regulation pathway
  • Immune response CCR3 signaling in eosinophils
  • Inhibitory action of Lipoxins on Superoxide production in neutrophils
4 Qiagen pathways for NCF1 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • fMLP Pathway
  • Transendothelial Migration of Leukocytes
1 Cell Signaling Technology pathway for NCF1 Gene

SIGNOR curated interactions for NCF1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006612 protein targeting to membrane IDA 12356722
GO:0006801 superoxide metabolic process TAS 7938008
GO:0006915 apoptotic process IEA --
GO:0006968 cellular defense response TAS 2848318
genes like me logo Genes that share ontologies with NCF1: view

Drugs & Compounds for NCF1 Gene

(2) Drugs for NCF1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 169
NADPH Experimental Pharma 0
genes like me logo Genes that share compounds with NCF1: view

Transcripts for NCF1 Gene

mRNA/cDNA for NCF1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF1

Alternative Splicing Database (ASD) splice patterns (SP) for NCF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - - -
SP11: - -
SP12:

ExUns: 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for NCF1 Gene

GeneLoc Exon Structure for
NCF1

Expression for NCF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF1 Gene

This gene is overexpressed in Whole Blood (x34.2).

Protein differential expression in normal tissues from HIPED for NCF1 Gene

This gene is overexpressed in Spleen (32.0), Monocytes (30.3), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NCF1 Gene



Protein tissue co-expression partners for NCF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCF1

SOURCE GeneReport for Unigene cluster for NCF1 Gene:

Hs.647047

mRNA Expression by UniProt/SwissProt for NCF1 Gene:

P14598-NCF1_HUMAN
Tissue specificity: Detected in peripheral blood monocytes and neutrophils (at protein level).

Evidence on tissue expression from TISSUES for NCF1 Gene

  • Adrenal gland(5)
  • Blood(5)
  • Eye(5)
  • Gall bladder(5)
  • Heart(5)
  • Intestine(5)
  • Liver(5)
  • Lung(5)
  • Nervous system(5)
  • Spleen(4.6)
  • Bone marrow(3.2)
  • Lymph node(2.9)
  • Muscle(2.5)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NCF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • scalp
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NCF1: view

Orthologs for NCF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NCF1 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NCF1 30 31
  • 86.98 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NCF1 30 31
  • 86.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ncf1 30 17 31
  • 81.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ncf1 30
  • 80.84 (n)
Oppossum
(Monodelphis domestica)
Mammalia NCF1 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Chicken
(Gallus gallus)
Aves NCF1 30 31
  • 71.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NCF1 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ncf1 30
  • 63.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii ncf1 30 31
  • 62.66 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for NCF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NCF1 Gene

ENSEMBL:
Gene Tree for NCF1 (if available)
TreeFam:
Gene Tree for NCF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCF1: view image

Paralogs for NCF1 Gene

Paralogs for NCF1 Gene

(8) SIMAP similar genes for NCF1 Gene using alignment to 3 proteins:

  • NCF1_HUMAN
  • C9J155_HUMAN
  • H7C1S1_HUMAN

Pseudogenes.org Pseudogenes for NCF1 Gene

genes like me logo Genes that share paralogs with NCF1: view

Variants for NCF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCF1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
973652 Likely Benign: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 74,788,576(+) C/T
NM_000265.6(NCF1):c.923C>T (p.Ala308Val)
MISSENSE
rs1057519503 Pathogenic: Familial hypertrophic cardiomyopathy 4 74,789,339(+) G/A
NM_000265.6(NCF1):c.*179G>A
THREE_PRIME_UTR
rs10614 Benign: not specified. - 74,779,322(+) A/.p.Ser99Gly
NM_000265.6(NCF1):c.295= (p.Ser99=)
NO_SEQUENCE_ALTERATION
rs119103270 Pathogenic: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1. Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700] 74,777,319(+) G/Ap.Arg42Gln
NM_000265.6(NCF1):c.125G>A (p.Arg42Gln)
MISSENSE
rs119103271 Pathogenic: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 74,779,298(+) C/T
NM_000265.6(NCF1):c.271C>T (p.Gln91Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NCF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NCF1 Gene

Variant ID Type Subtype PubMed ID
nsv1032137 CNV gain 25217958
nsv1110490 CNV duplication 24896259
nsv1151807 CNV duplication 26484159
nsv482102 CNV gain 20164927
nsv509208 CNV insertion 20534489
nsv8142 CNV gain 18304495
nsv970532 CNV duplication 23825009

Variation tolerance for NCF1 Gene

Gene Damage Index Score: 1.23; 24.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCF1 Gene

Human Gene Mutation Database (HGMD)
NCF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF1 Gene

Disorders for NCF1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NCF1 Gene - From: OMI, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NCF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NCF1_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]: A 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. {ECO:0000269 PubMed:11133775, ECO:0000269 PubMed:23910690}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for NCF1 Gene

chronic granulomatous disease,autosomal common form

Additional Disease Information for NCF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NCF1: view

Publications for NCF1 Gene

  1. A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases. (PMID: 28135245) Zhao J … Tsao BP (Nature genetics 2017) 3 4
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4
  3. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. (PMID: 19410294) Di Matteo G … IPINET (Italian Network for Primary Immunodeficiencies) (Molecular immunology 2009) 3 41
  4. NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity. (PMID: 19077231) Greve B … Kremsner PG (Malaria journal 2008) 3 41
  5. [The relationship between the exon 10 of the p47(phox) polymorphism and stroke and the effect of the polymorphism on plasma lipid]. (PMID: 17922419) Huang XS … Zhu XY (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007) 3 41

Products for NCF1 Gene

  • Addgene plasmids for NCF1

Sources for NCF1 Gene