LOCUS       NM_000265               1349 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.
ACCESSION   NM_000265 XM_001127247 XM_928908
VERSION     NM_000265.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1349)
  AUTHORS   Liu,X., Shi,Y., Liu,R., Song,K. and Chen,L.
  TITLE     Structure of human phagocyte NADPH oxidase in the activated state
  JOURNAL   Nature 627 (8002), 189-195 (2024)
   PUBMED   38355798
REFERENCE   2  (bases 1 to 1349)
  AUTHORS   Deng,X., Sang,Q., Zhang,R., Mu,J. and Bao,S.
  TITLE     The association of APOH and NCF1 polymorphisms on susceptibility to
            recurrent pregnancy loss in women with antiphospholipid syndrome
  JOURNAL   J Assist Reprod Genet 40 (7), 1703-1712 (2023)
   PUBMED   37243946
  REMARK    GeneRIF: The association of APOH and NCF1 polymorphisms on
            susceptibility to recurrent pregnancy loss in women with
            antiphospholipid syndrome.
REFERENCE   3  (bases 1 to 1349)
  AUTHORS   Tlili,A., Pintard,C., Hurtado-Nedelec,M., Liu,D., Marzaioli,V.,
            Thieblemont,N., Dang,P.M. and El-Benna,J.
  TITLE     ROCK2 interacts with p22phox to phosphorylate p47phox and to
            control NADPH oxidase activation in human monocytes
  JOURNAL   Proc Natl Acad Sci U S A 120 (3), e2209184120 (2023)
   PUBMED   36626553
  REMARK    GeneRIF: ROCK2 interacts with p22phox to phosphorylate p47phox and
            to control NADPH oxidase activation in human monocytes.
REFERENCE   4  (bases 1 to 1349)
  AUTHORS   Belambri,S.A., Marzaioli,V., Hurtado-Nedelec,M., Pintard,C.,
            Liang,S., Liu,Y., Boussetta,T., Gougerot-Pocidalo,M.A., Ye,R.D.,
            Dang,P.M. and El-Benna,J.
  TITLE     Impaired p47phox phosphorylation in neutrophils from patients with
            p67phox-deficient chronic granulomatous disease
  JOURNAL   Blood 139 (16), 2512-2522 (2022)
   PUBMED   35108370
  REMARK    GeneRIF: Impaired p47phox phosphorylation in neutrophils from
            patients with p67phox-deficient chronic granulomatous disease.
REFERENCE   5  (bases 1 to 1349)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22876374
REFERENCE   6  (bases 1 to 1349)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301427
REFERENCE   7  (bases 1 to 1349)
  AUTHORS   Casimir,C.M., Bu-Ghanim,H.N., Rodaway,A.R., Bentley,D.L., Rowe,P.
            and Segal,A.W.
  TITLE     Autosomal recessive chronic granulomatous disease caused by
            deletion at a dinucleotide repeat
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2753-2757 (1991)
   PUBMED   2011585
REFERENCE   8  (bases 1 to 1349)
  AUTHORS   Rodaway,A.R., Teahan,C.G., Casimir,C.M., Segal,A.W. and
            Bentley,D.L.
  TITLE     Characterization of the 47-kilodalton autosomal chronic
            granulomatous disease protein: tissue-specific expression and
            transcriptional control by retinoic acid
  JOURNAL   Mol Cell Biol 10 (10), 5388-5396 (1990)
   PUBMED   2398896
REFERENCE   9  (bases 1 to 1349)
  AUTHORS   Volpp,B.D., Nauseef,W.M., Donelson,J.E., Moser,D.R. and Clark,R.A.
  TITLE     Cloning of the cDNA and functional expression of the 47-kilodalton
            cytosolic component of human neutrophil respiratory burst oxidase
  JOURNAL   Proc Natl Acad Sci U S A 86 (18), 7195-7199 (1989)
   PUBMED   2550933
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Dec;86(23):9563]
REFERENCE   10 (bases 1 to 1349)
  AUTHORS   Lomax,K.J., Leto,T.L., Nunoi,H., Gallin,J.I. and Malech,H.L.
  TITLE     Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in
            chronic granulomatous disease
  JOURNAL   Science 245 (4916), 409-412 (1989)
   PUBMED   2547247
  REMARK    Erratum:[Science 1989 Nov 24;246(4933):987]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211433.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 10, 2021 this sequence version replaced NM_000265.6.
            
            Summary: The protein encoded by this gene is a 47 kDa cytosolic
            subunit of neutrophil NADPH oxidase. This oxidase is a
            multicomponent enzyme that is activated to produce superoxide
            anion. Mutations in this gene have been associated with chronic
            granulomatous disease. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223217.1, BC002816.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289473.11/ ENSP00000289473.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AC211433.4         210776-210868
            94-174              AC211433.4         214032-214112
            175-250             AC211433.4         215847-215922
            251-416             AC211433.4         216022-216187
            417-472             AC211433.4         217545-217600
            473-595             AC211433.4         219704-219826
            596-703             AC211433.4         220290-220397
            704-821             AC211433.4         221947-222064
            822-926             AC211433.4         224749-224853
            927-1072            AC211433.4         225324-225469
            1073-1349           AC211433.4         225804-226080
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1349
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /note="neutrophil cytosolic factor 1"
                     /db_xref="GeneID:653361"
                     /db_xref="HGNC:HGNC:7660"
                     /db_xref="MIM:608512"
     exon            1..93
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1194
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /note="NADPH oxidase organizer 2; neutrophil cytosolic
                     factor 1, (chronic granulomatous disease, autosomal 1);
                     nox organizer 2; nox-organizing protein 2; 47 kDa
                     neutrophil oxidase factor; neutrophil NADPH oxidase factor
                     1; SH3 and PX domain-containing protein 1A; 47 kDa
                     autosomal chronic granulomatous disease protein"
                     /codon_start=1
                     /product="neutrophil cytosol factor 1"
                     /protein_id="NP_000256.4"
                     /db_xref="CCDS:CCDS34657.1"
                     /db_xref="GeneID:653361"
                     /db_xref="HGNC:HGNC:7660"
                     /db_xref="MIM:608512"
                     /translation="MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRF
                     TEIYEFHKTLKEMFPIEAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLM
                     SLPTKISRCPHLLDFFKVRPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQT
                     YRAIANYEKTSGSEMALSTGDVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDE
                     TEDPEPNYAGEPYVAIKAYTAVEGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFP
                     SMYLQKSGQDVSQAQRQIKRGAPPRRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQ
                     RRRQARPGPQSPGSPLEEERQTQRSKPQPAVPPRPSADLILNRCSESTKRKLASAV"
     exon            94..174
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            175..250
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            251..416
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            417..472
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            473..595
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            596..703
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            704..821
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            822..926
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1072
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1349
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF-1; NCF-47K; NCF1A; NOXO2;
                     p47-phox; p47phox; SH3PXD1A"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agcactggag gccacccagt catgggggac accttcatcc gtcacatcgc cctgctgggc
       61 tttgagaagc gcttcgtacc cagccagcac tatgtgtaca tgttcctggt gaaatggcag
      121 gacctgtcgg agaaggtggt ctaccggcgc ttcaccgaga tctacgagtt ccataaaacc
      181 ttaaaagaaa tgttccctat tgaggcaggg gcgatcaatc cagagaacag gatcatcccc
      241 cacctcccag ctcccaagtg gtttgacggg cagcgggccg ccgagaaccg ccagggcaca
      301 cttaccgagt actgcagcac gctcatgagc ctgcccacca agatctcccg ctgtccccac
      361 ctcctcgact tcttcaaggt gcgccctgat gacctcaagc tccccacgga caaccagaca
      421 aaaaagccag agacatactt gatgcccaaa gatggcaaga gtaccgcgac agacatcacc
      481 ggccccatca tcctgcagac gtaccgcgcc attgccaact acgagaagac ctcgggctcc
      541 gagatggctc tgtccacggg ggacgtggtg gaggtcgtag agaagagcga gagcggttgg
      601 tggttctgtc agatgaaagc aaagcgaggc tggatcccag cgtccttcct cgagcccctg
      661 gacagtcctg acgagacgga agaccctgag cccaactatg caggtgagcc atacgtcgcc
      721 atcaaggcct acactgctgt ggagggggac gaggtgtccc tgctcgaggg tgaagctgtt
      781 gaggtcattc acaagctcct ggacggctgg tgggtcatca ggaaagacga cgtcacaggc
      841 tacttcccgt ccatgtacct gcaaaagtca gggcaagacg tgtcccaggc ccaacgccag
      901 atcaagcggg gggcgccgcc ccgcaggtcg tccatccgca acgcgcacag catccaccag
      961 cggtcgcgga agcgcctcag ccaggacgcc tatcgccgca acagcgtccg ttttctgcag
     1021 cagcgacgcc gccaggcgcg gccgggaccg cagagccccg ggagcccgct cgaggaggag
     1081 cggcagacgc agcgctctaa accgcagccg gcggtgcccc cgcggccgag cgccgacctc
     1141 atcctgaacc gctgcagcga gagcaccaag cggaagctgg cgtctgccgt ctgaggctgg
     1201 agcgcagtcc ccagctagcg tctcggccct tgccgccccg tgcctgtata tacgtgttct
     1261 atagagcctg gcgtctggac gccgagggca gccccgaccc ctgtccagcg cggctcccgc
     1321 caccctcaat aaatgttgct tggagtgga
//
