LOCUS       NM_000101                692 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens cytochrome b-245 alpha chain (CYBA), mRNA.
ACCESSION   NM_000101
VERSION     NM_000101.4
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 692)
  AUTHORS   Zhang,R., Liu,S., Tan,P., Guo,Z., Hou,H., Liu,S., Li,H. and Wang,X.
  TITLE     Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis
            in the Chinese Population
  JOURNAL   Biochem Genet 62 (3), 1675-1689 (2024)
   PUBMED   37665479
  REMARK    GeneRIF: Effect of the CYBA C242T Polymorphism on Preeclampsia
            Pathogenesis in the Chinese Population.
REFERENCE   2  (bases 1 to 692)
  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
  REMARK    GeneRIF: Structure of human phagocyte NADPH oxidase in the
            activated state.
REFERENCE   3  (bases 1 to 692)
  AUTHORS   Chang,C.F., Huang,S.P., Hsueh,Y.M., Chen,P.L., Lee,C.H., Geng,J.H.,
            Huang,C.Y. and Bao,B.Y.
  TITLE     CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence
            from an Integrated Genetic Analysis
  JOURNAL   Cancer Genomics Proteomics 20 (5), 469-475 (2023)
   PUBMED   37643785
  REMARK    GeneRIF: CYBA as a Potential Biomarker for Renal Cell Carcinoma:
            Evidence from an Integrated Genetic Analysis.
REFERENCE   4  (bases 1 to 692)
  AUTHORS   Tornell,A., Lagerstrom,N., Mossberg,N., Kiffin,R., Farman,H.,
            Lycke,J., Andersen,O., Axelsson,M., Hellstrand,K. and Martner,A.
  TITLE     CYBA allelic variants are associated with severity and recovery in
            Guillain-Barre syndrome
  JOURNAL   J Peripher Nerv Syst 28 (3), 407-414 (2023)
   PUBMED   37288802
  REMARK    GeneRIF: CYBA allelic variants are associated with severity and
            recovery in Guillain-Barre syndrome.
REFERENCE   5  (bases 1 to 692)
  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   6  (bases 1 to 692)
  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   7  (bases 1 to 692)
  AUTHORS   de Boer,M., de Klein,A., Hossle,J.P., Seger,R., Corbeel,L.,
            Weening,R.S. and Roos,D.
  TITLE     Cytochrome b558-negative, autosomal recessive chronic granulomatous
            disease: two new mutations in the cytochrome b558 light chain of
            the NADPH oxidase (p22-phox)
  JOURNAL   Am J Hum Genet 51 (5), 1127-1135 (1992)
   PUBMED   1415254
REFERENCE   8  (bases 1 to 692)
  AUTHORS   Dinauer,M.C., Pierce,E.A., Erickson,R.W., Muhlebach,T.J.,
            Messner,H., Orkin,S.H., Seger,R.A. and Curnutte,J.T.
  TITLE     Point mutation in the cytoplasmic domain of the neutrophil p22-phox
            cytochrome b subunit is associated with a nonfunctional NADPH
            oxidase and chronic granulomatous disease
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 11231-11235 (1991)
   PUBMED   1763037
REFERENCE   9  (bases 1 to 692)
  AUTHORS   Bu-Ghanim,H.N., Casimir,C.M., Povey,S. and Segal,A.W.
  TITLE     The alpha subunit of cytochrome b-245 mapped to chromosome 16
  JOURNAL   Genomics 8 (3), 568-570 (1990)
   PUBMED   2286377
REFERENCE   10 (bases 1 to 692)
  AUTHORS   Dinauer,M.C., Pierce,E.A., Bruns,G.A., Curnutte,J.T. and Orkin,S.H.
  TITLE     Human neutrophil cytochrome b light chain (p22-phox). Gene
            structure, chromosomal location, and mutations in
            cytochrome-negative autosomal recessive chronic granulomatous
            disease
  JOURNAL   J Clin Invest 86 (5), 1729-1737 (1990)
   PUBMED   2243141
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116552.2.
            
            On Nov 24, 2018 this sequence version replaced NM_000101.3.
            
            Summary: Cytochrome b is comprised of a light chain (alpha) and a
            heavy chain (beta). This gene encodes the light, alpha subunit
            which has been proposed as a primary component of the microbicidal
            oxidase system of phagocytes. Mutations in this gene are associated
            with autosomal recessive chronic granulomatous disease (CGD), that
            is characterized by the failure of activated phagocytes to generate
            superoxide, which is important for the microbicidal activity of
            these cells. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: CA311054.1, CA311071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261623.8/ ENSP00000261623.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                AC116552.2         15527-15624
            99-168              AC116552.2         18466-18535
            169-243             AC116552.2         19405-19479
            244-327             AC116552.2         19742-19825
            328-409             AC116552.2         20383-20464
            410-692             AC116552.2         23009-23291
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     gene            1..692
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="cytochrome b-245 alpha chain"
                     /db_xref="GeneID:1535"
                     /db_xref="HGNC:HGNC:2577"
                     /db_xref="MIM:608508"
     exon            1..98
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..628
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="cytochrome b, alpha polypeptide; cytochrome b light
                     chain; flavocytochrome b-558 alpha polypeptide; cytochrome
                     b(558) alpha-subunit; p22phox; cytochrome b-245, alpha
                     polypeptide; p22 phagocyte B-cytochrome; cytochrome b(558)
                     alpha chain; cytochrome b558 subunit alpha; neutrophil
                     cytochrome b 22 kDa polypeptide; superoxide-generating
                     NADPH oxidase light chain subunit"
                     /codon_start=1
                     /product="cytochrome b-245 light chain"
                     /protein_id="NP_000092.2"
                     /db_xref="CCDS:CCDS32504.1"
                     /db_xref="GeneID:1535"
                     /db_xref="HGNC:HGNC:2577"
                     /db_xref="MIM:608508"
                     /translation="MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIV
                     AGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAG
                     FLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPP
                     AEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV"
     exon            99..168
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            169..243
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            244..327
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            328..409
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            410..692
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      671..676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      692
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcgcc tagcagtgtc ccagccgggt tcgtgtcgcc atggggcaga tcgagtgggc
       61 catgtgggcc aacgaacagg cgctggcgtc cggcctgatc ctcatcaccg ggggcatcgt
      121 ggccacagct gggcgcttca cccagtggta ctttggtgcc tactccattg tggcgggcgt
      181 gtttgtgtgc ctgctggagt acccccgggg gaagaggaag aagggctcca ccatggagcg
      241 ctggggacag aagtacatga ccgccgtggt gaagctgttc gggcccttta ccaggaatta
      301 ctatgttcgg gccgtcctgc atctcctgct ctcggtgccc gccggcttcc tgctggccac
      361 catccttggg accgcctgcc tggccattgc gagcggcatc tacctactgg cggctgtgcg
      421 tggcgagcag tggacgccca tcgagcccaa gccccgggag cggccgcaga tcggaggcac
      481 catcaagcag ccgcccagca accccccgcc gcggcccccg gccgaggccc gcaagaagcc
      541 cagcgaggag gaggctgcgg tggcggcggg gggacccccg ggaggtcccc aggtcaaccc
      601 catcccggtg accgacgagg tcgtgtgacc tcgccccgga cctgccctcc cgccaggtgc
      661 acccacctgc aataaatgca gcgaagccgg ga
//
