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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NCF1B Gene

pseudogene   GIFtS: 33
GCID: GC07P072635

Neutrophil Cytosolic Factor 1B Pseudogene

(Previous name: neutrophil cytosolic factor 1B)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
Neutrophil Cytosolic Factor 1B Pseudogene1 2
NCF-1B2 3
SH3PXD1B2 3
Neutrophil Cytosolic Factor 1B1
Putative SH3 And PX Domain-Containing Protein 1B3

External Ids:    HGNC: 325221   Entrez Gene: 6548162   Ensembl: ENSG000001824877   UniProtKB: A6NI723   
ORGUL members:    fRNAdb10:FR303010      
H-InvDB12:HIT000218777    
NCBI13:U25793    
NONCODE14:n405914      
RNAdb15:HIV1948    

Export aliases for NCF1B gene to outside databases

Previous GC identifers: GC07U901696 GC07P072274 GC07P071968


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NCF1B Gene: 
NCF1B (neutrophil cytosolic factor 1B pseudogene) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with NCF1B include chronic granulomatous disease. GO annotations related to this gene include phosphatidylinositol binding and superoxide-generating NADPH oxidase activity.

UniProtKB/Swiss-Prot: NCF1B_HUMAN, A6NI72
Function: May be required for activation of the latent NADPH oxidase (necessary for superoxide production) (By
similarity)



fRNAdb sequence ontology for NCF1B:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for NCF1B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NCF1B gene promoter:
         HOXA9B   TBP   Pbx1a   AP-1   Cdc5   LCR-F1   YY1   MEF-2A   MZF-1   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NCF1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NCF1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

NCF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCF1B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P072635:  view genomic region     (about GC identifiers)

Start:
72,634,611 bp from pter      End:
72,649,979 bp from pter
Size:
15,369 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 71,967,746-71,983,051     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for NCF1B

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NCF1B_HUMAN, A6NI72 (See protein sequence)
Recommended Name: Putative neutrophil cytosol factor 1B  
Size: 391 amino acids; 44817 Da
Subcellular location: Cytoplasm (By similarity)
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for NCF1B: NX_A6NI72

Explore proteomics data for NCF1B at MOPED 

NCF1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NCF1B Protein Expression

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

NCF1B for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
4 InterPro protein domains:
 IPR015039 NADPH_oxidase_p47Phox_C
 IPR001683 Phox
 IPR001452 SH3_domain
 IPR001655 P47PHOX

Graphical View of Domain Structure for InterPro Entry A6NI72

ProtoNet protein and cluster: A6NI72

UniProtKB/Swiss-Prot: NCF1B_HUMAN, A6NI72
Similarity: Contains 1 PX (phox homology) domain
Similarity: Contains 2 SH3 domains


NCF1B for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NCF1B_HUMAN, A6NI72
Function: May be required for activation of the latent NADPH oxidase (necessary for superoxide production) (By
similarity)

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016175superoxide-generating NADPH oxidase activity IEA--
GO:0035091phosphatidylinositol binding IEA--
     
NCF1B for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NCF1B

5/8 Interacting proteins for NCF1B (A6NI723) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
InteractantInteraction Details
GeneCardExternal ID(s)
AKT1P317493I2D: score=1 
IRAK4Q9NWZ33I2D: score=1 
PAK1Q131533I2D: score=1 
PLA2G4AP477123I2D: score=1 
PRKCZQ055133I2D: score=1 
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007154cell communication IEA--

NCF1B for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NCF1B

1 HMDB Compound for NCF1B    About this table
CompoundSynonyms CAS #PubMed Ids
NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

Search CenterWatch for drugs/clinical trials and news about NCF1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
1 fRNAdb Secondary structure:


Unigene Cluster for NCF1B:

Neutrophil cytosolic factor 1B pseudogene
Hs.655201  [show with all ESTs]
Unigene Representative Sequence: BM455295
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000432102 ENST00000423083(uc022afs.1) ENST00000435988 ENST00000338578
ENST00000543901(uc011ker.1) ENST00000541521
miRNA
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Additional mRNA sequence: 

AK292094.1 AK298655.1 AK316329.1 AK316341.1 BC080194.1 NR_003186.1 NR_003187.2 

22 DOTS entries:

DT.99981388  DT.95329095  DT.95329092  DT.102840657  DT.121058223  DT.450452  DT.92440157  DT.121058296 
DT.100815103  DT.121057774  DT.95096374  DT.95329093  DT.97846804  DT.100705888  DT.100815101  DT.121057687 
DT.100815093  DT.100815106  DT.101982114  DT.121041970  DT.121057758  DT.97822017 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NCF1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NCF1B Expression
About this image


See NCF1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NCF1B

SOURCE GeneReport for Unigene cluster: Hs.655201
    SABiosciences Custom PCR Arrays for NCF1B
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCF1B

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
  --

ENSEMBL Gene Tree for NCF1B (if available)
TreeFam Gene Tree for NCF1B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NCF1B gene
6 SIMAP similar genes for NCF1B using alignment to 1 protein entry:     NCF1B_HUMAN:
NCF1C    NCF1    ARHGEF7    ITSN1    SH3PXD2A    SH3PXD2B

NCF1B for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/28 SNPs in NCF1B are shown (see all 28)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2010193731,2
--72632953(+) GAGGC-/ACAG  
  GCTGCA
GCAGG
1 -- us2k10--------
rs173553661,2
F--72639960(-) CCTGGC/TGGTTC 1 -- int11Minor allele frequency- T:0.47MN 184
rs2000499451,2
F--72639990(+) CGGCAC/TGCTCA 1 -- int11Minor allele frequency- T:0.01EU 589
rs2013083491,2
F--72640036(+) CTCCTT/CGACTT 1 -- int11Minor allele frequency- C:0.01EU 409
rs2021059141,2
F--72643743(+) CTTACG/AGGGCT 1 -- nc-transcript-variant1Minor allele frequency- A:0.02EU 397
rs767000871,2
C--72644436(+) TGGCTC/TGGGGG 1 -- int10--------
rs2019639061,2
C--72645356(+) GATTA-/CAGG  
 TGGGAAC
CACCT
1 -- int10--------
rs1158910921,2
F--72649889(+) GTGTTC/GTATAG 1 -- nc-transcript-variant1Minor allele frequency- G:0.11WA 118
rs2000261571,2
----72645989(+) CAGAGC/TACCCA 1 -- int11Minor allele frequency- T:0.00EU 483
rs2019628131,2
----72633364(+) CACTCA/GTTCAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for NCF1B (72634611 - 72649979 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for NCF1B:    About this table     
Variant IDTypeSubtypePubMed ID
esv2734660CNV Deletion23290073
nsv831027CNV Loss17160897
esv34349CNV Gain17911159
nsv428171CNV Gain18775914
nsv8139CNV Gain18304495
nsv888362CNV Gain21882294
nsv520573CNV Gain+Loss19592680
dgv2095e1CNV Complex17122850
dgv2099e1CNV Complex17122850
dgv2098e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM information: 141400 605635 608512    
2 diseases for NCF1B:    About MalaCards
chronic granulomatous disease    


NCF1B for disorders           About GeneDecksing

Genetic Association Database (GAD): NCF1B
Human Genome Epidemiology (HuGE) Navigator: NCF1B (1 document)

Export disorders for NCF1B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for NCF1B gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with NCF1B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity. (PubMed id 19077231)1, 4 Greve B....Kremsner P.G. (2008)
  2. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
  3. Anti-inflammatory effect of interleukin-10 on human neutrophil respiratory burst involves inhibition of GM-CSF-induced p47PHOX phosphorylation through a decrease in ERK1/2 activity. (PubMed id 16720733)1 Dang P.M....El-Benna J. (2006)
  4. Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection. (PubMed id 12176908)1 Heyworth P.G....Cross A.R. (2002)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  6. Genomic structure of the human p47-phox (NCF1) gene. (PubMed id 10772875)1 Chanock S.J.... Goerlach A. (2000)
  7. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)
  8. A p47-phox pseudogene carries the most common mutation causing p47- phox-deficient chronic granulomatous disease. (PubMed id 9329953)1 Gorlach A.... Curnutte J.T. (1997)
  9. (PubMed id 15103394)10 
  10. (PubMed id 18089548)10 

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 654816 HGNC: 32522 Ensembl:ENSG00000182487 euGenes: HUgn654816 ECgene: NCF1B
H-InvDB: NCF1B

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for NCF1B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for NCF1B gene:
Search GeneIP for patents involving NCF1B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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