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Aliases for NCF1C Gene

Aliases for NCF1C Gene

  • Neutrophil Cytosolic Factor 1C Pseudogene 2 3
  • SH3PXD1C 3 4
  • Putative SH3 And PX Domain-Containing Protein 1C 4
  • Neutrophil Cytosolic Factor 1C 2
  • NCF-1C 4

External Ids for NCF1C Gene

Summaries for NCF1C Gene

Entrez Gene Summary for NCF1C Gene

  • The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]

GeneCards Summary for NCF1C Gene

NCF1C (Neutrophil Cytosolic Factor 1C Pseudogene) is a Pseudogene. Diseases associated with NCF1C include chronic granulomatous disease. GO annotations related to this gene include phosphatidylinositol binding and superoxide-generating NADPH oxidase activity.

UniProtKB/Swiss-Prot for NCF1C Gene

  • May be required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Wiki entry for NCF1C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF1C Gene

Genomics for NCF1C Gene

Genomic Location for NCF1C Gene

Start:
75,156,578 bp from pter
End:
75,172,044 bp from pter
Size:
15,467 bases
Orientation:
Minus strand

Genomic View for NCF1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCF1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF1C Gene

Regulatory Elements for NCF1C Gene

Proteins for NCF1C Gene

  • Protein details for NCF1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MVU1-NCF1C_HUMAN
    Recommended name:
    Putative neutrophil cytosol factor 1C
    Protein Accession:
    A8MVU1
    Secondary Accessions:

    Protein attributes for NCF1C Gene

    Size:
    366 amino acids
    Molecular mass:
    41851 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NCF1C Gene

Proteomics data for NCF1C Gene at MOPED

Post-translational modifications for NCF1C Gene

No Post-translational modifications

No data available for DME Specific Peptides for NCF1C Gene

Domains for NCF1C Gene

Protein Domains for NCF1C Gene

UniProtKB/Swiss-Prot:

NCF1C_HUMAN
Domain:
  • Contains 1 PX (phox homology) domain.:
    • A8MVU1
  • Contains 2 SH3 domains.:
    • A8MVU1
genes like me logo Genes that share domains with NCF1C: view

No data available for Gene Families for NCF1C Gene

Function for NCF1C Gene

Molecular function for NCF1C Gene

UniProtKB/Swiss-Prot Function: May be required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Ontology (GO) - Molecular Function for NCF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016175 superoxide-generating NADPH oxidase activity IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with NCF1C: view
genes like me logo Genes that share phenotypes with NCF1C: view

Animal Models for NCF1C Gene

MGI Knock Outs for NCF1C:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NCF1C Gene

Localization for NCF1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF1C Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCF1C Gene COMPARTMENTS Subcellular localization image for NCF1C gene
Compartment Confidence
cytosol 4
lysosome 4
plasma membrane 4
vacuole 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NCF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NCF1C: view

Pathways for NCF1C Gene

SuperPathways for NCF1C Gene

No Data Available

Interacting Proteins for NCF1C Gene

Gene Ontology (GO) - Biological Process for NCF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NCF1C: view

No data available for Pathways by source for NCF1C Gene

Compounds for NCF1C Gene

(1) HMDB Compounds for NCF1C Gene

Compound Synonyms Cas Number PubMed IDs
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6
genes like me logo Genes that share compounds with NCF1C: view

Transcripts for NCF1C Gene

mRNA/cDNA for NCF1C Gene

(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NCF1C Gene

Neutrophil cytosolic factor 1C pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NCF1C Gene

No ASD Table

Relevant External Links for NCF1C Gene

GeneLoc Exon Structure for
NCF1C
ECgene alternative splicing isoforms for
NCF1C

Expression for NCF1C Gene

mRNA expression in normal human tissues for NCF1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF1C Gene

This gene is overexpressed in Whole Blood (32.7) and Spleen (4.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NCF1C Gene

SOURCE GeneReport for Unigene cluster for NCF1C Gene Hs.648940

genes like me logo Genes that share expressions with NCF1C: view

Orthologs for NCF1C Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for NCF1C Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Ncf1 16
Species with no ortholog for NCF1C:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NCF1C Gene

ENSEMBL:
Gene Tree for NCF1C (if available)
TreeFam:
Gene Tree for NCF1C (if available)

Paralogs for NCF1C Gene

Selected SIMAP similar genes for NCF1C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NCF1C: view

No data available for Paralogs for NCF1C Gene

Variants for NCF1C Gene

Sequence variations from dbSNP and Humsavar for NCF1C Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs707361 -- 75,161,080(-) TTATG(A/G)GATCT intron-variant
rs1126736 -- 75,166,545(-) CCCAC(A/G)GACAA nc-transcript-variant
rs1637418 -- 75,160,694(-) GAGGT(A/C)ATTCA nc-transcript-variant
rs1804003 -- 75,157,960(-) ACGAC(C/G)TCACA nc-transcript-variant
rs2429071 -- 75,157,365(-) ATCCA(C/T)CAGCG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for NCF1C Gene

Variant ID Type Subtype PubMed ID
dgv2100e1 CNV Complex 17122850
essv21300 CNV CNV 17122850
nsv888381 CNV Gain 21882294
nsv528969 CNV Gain 19592680
nsv831034 CNV Loss 17160897
nsv8148 CNV Gain 18304495

Relevant External Links for NCF1C Gene

HapMap Linkage Disequilibrium report
NCF1C

Disorders for NCF1C Gene

(1) University of Copenhagen DISEASES for NCF1C Gene

Relevant External Links for NCF1C

Genetic Association Database (GAD)
NCF1C
Human Genome Epidemiology (HuGE) Navigator
NCF1C
genes like me logo Genes that share disorders with NCF1C: view

No data available for UniProtKB/Swiss-Prot for NCF1C Gene

Publications for NCF1C Gene

  1. NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity. (PMID: 19077231) Greve B. … Kremsner P.G. (Malar. J. 2008) 3 49
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4
  3. Molecular basis of the autosomal recessive forms of chronic granulomatous disease. (PMID: 1554499) Curnutte J.T. (Immunodefic Rev 1992) 3
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3
  5. A p47-phox pseudogene carries the most common mutation causing p47- phox-deficient chronic granulomatous disease. (PMID: 9329953) Gorlach A. … Curnutte J.T. (J. Clin. Invest. 1997) 3

Products for NCF1C Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate NCF1C
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NCF1C
    • Block miRNA regulation of NCF1C using miScript Target Protectors

    Sources for NCF1C Gene

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