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Aliases for NCF1C Gene

Aliases for NCF1C Gene

  • Neutrophil Cytosolic Factor 1C Pseudogene 2 3 5
  • 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

Previous GeneCards Identifiers for NCF1C Gene

  • GC07U901697
  • GC07P072273
  • GC07M074211
  • GC07M074574
  • GC07M073906

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

Regulatory Elements for NCF1C Gene

Promoters for NCF1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NCF1C on UCSC Golden Path with GeneCards custom track

Genomic Location for NCF1C Gene

Chromosome:
7
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

Genes around NCF1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCF1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCF1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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 & Families for NCF1C Gene

Protein Domains for NCF1C Gene

Suggested Antigen Peptide Sequences for NCF1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MVU1

UniProtKB/Swiss-Prot:

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NCF1C Gene

Localization for NCF1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF1C Gene

Cytoplasm.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NCF1C Gene

Pathways & Interactions for NCF1C Gene

SuperPathways for NCF1C Gene

No Data Available

Interacting Proteins for NCF1C Gene

Gene Ontology (GO) - Biological Process for NCF1C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NCF1C Gene

Drugs & Compounds for NCF1C Gene

(1) Additional Compounds for NCF1C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
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 differential expression in normal tissues according to GTEx for NCF1C Gene

This gene is overexpressed in Whole Blood (x32.7) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for NCF1C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NCF1C Gene



SOURCE GeneReport for Unigene cluster for NCF1C Gene Hs.648940

genes like me logo Genes that share expression patterns with NCF1C: view

Protein tissue co-expression partners for NCF1C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NCF1C Gene

Orthologs for NCF1C Gene

Evolution for NCF1C Gene

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

No data available for Orthologs for NCF1C Gene

Paralogs for NCF1C Gene

(6) 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
rs697669 -- 75,172,551(-) actgc(A/G)cttaa upstream-variant-2KB
rs800018 -- 75,165,918(-) AGCAC(C/T)TATTG intron-variant
rs800982 -- 75,163,476(-) tccac(A/G)cctgt intron-variant
rs707362 -- 75,159,784(-) GAGGC(A/T)GCAGT intron-variant
rs1042501 -- 75,157,946(-) TACTT(C/T)CCGTC 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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NCF1C Gene

Disorders for NCF1C Gene

MalaCards: The human disease database

(1) MalaCards diseases for NCF1C Gene - From: GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease
  • bridges-good syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NCF1C in MalaCards View complete list of genes associated with diseases

Relevant External Links for NCF1C

Genetic Association Database (GAD)
NCF1C
Human Genome Epidemiology (HuGE) Navigator
NCF1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCF1C
genes like me logo Genes that share disorders with NCF1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 48 67
  2. Functional pseudogenes inhibit the superoxide production. (PMID: 26086043) Xu W. … Song Q. (Precis Med 2015) 3
  3. Coronary artery superoxide production and nox isoform expression in human coronary artery disease. (PMID: 16293794) Guzik T.J. … Channon K.M. (Arterioscler. Thromb. Vasc. Biol. 2006) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Activation of the superoxide-producing phagocyte NADPH oxidase requires co-operation between the tandem SH3 domains of p47phox in recognition of a polyproline type II helix and an adjacent alpha-helix of p22phox. (PMID: 16460309) Nobuhisa I. … Sumimoto H. (Biochem. J. 2006) 3

Products for NCF1C Gene

Sources for NCF1C Gene

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