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

    Gene ID: 654817, updated on 10-Dec-2024

    Summary

    Official Symbol
    NCF1Cprovided by HGNC
    Official Full Name
    neutrophil cytosolic factor 1C (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:32523
    See related
    Ensembl:ENSG00000296524 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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75156578..75171998, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76360531..76375949, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr7:74785909-74786408 Neighboring gene RCC1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18290 Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74267014-74267744 Neighboring gene GTF2I repeat domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74578607-74579107 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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
     
    Process Evidence Code Pubs
    involved_in respiratory burst IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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
      ENST00000740088.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)