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NCF1C neutrophil cytosolic factor 1C pseudogene [ Homo sapiens (human) ]

Gene ID: 654817, updated on 13-May-2022

Summary

Official Symbol
NCF1Cprovided by HGNC
Official Full Name
neutrophil cytosolic factor 1C pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:32523
See related
Ensembl:ENSG00000165178 AllianceGenome:HGNC:32523
Gene type
pseudo
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SH3PXD1C
Summary
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]
Expression
Biased expression in bone marrow (RPKM 81.6), spleen (RPKM 45.1) and 10 other tissues See more
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Genomic context

See NCF1C in Genome Data Viewer
Location:
7q11.23
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75156578..75171998, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76360531..76375949, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74572384..74587802, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene RCC1 like Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene GTF2I repeat domain containing 2B Neighboring gene general transcription factor IIi pseudogene 1 Neighboring gene uncharacterized LOC107986710 Neighboring gene PHB1 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
enables superoxide-generating NADPH oxidase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in respiratory burst IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_003187.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC094845, BM678845, DC389713
    Related
    ENST00000438382.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75156578..75171998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76360531..76375949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)