LOCUS       NM_001193655            2316 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens cytochrome b-245 chaperone 1 (CYBC1), transcript
            variant 6, mRNA.
ACCESSION   NM_001193655
VERSION     NM_001193655.2
KEYWORDS    RefSeq.
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 2316)
  AUTHORS   Perez-Heras,I., Tsilifis,C., Slatter,M.A., Brynjolfsson,S.F.,
            Haraldsson,A. and Gennery,A.R.
  TITLE     HSCT in two brothers with CGD arising from mutations in CYBC1
            corrects the defect in neutrophil function
  JOURNAL   Clin Immunol 229, 108799 (2021)
   PUBMED   34280579
  REMARK    GeneRIF: HSCT in two brothers with CGD arising from mutations in
            CYBC1 corrects the defect in neutrophil function.
REFERENCE   2  (bases 1 to 2316)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2316)
  AUTHORS   Ryoden,Y., Fujii,T., Segawa,K. and Nagata,S.
  TITLE     Functional Expression of the P2X7 ATP Receptor Requires Eros
  JOURNAL   J Immunol 204 (3), 559-568 (2020)
   PUBMED   31862710
  REMARK    GeneRIF: these results indicated that Eros acts as a chaperone not
            only for NADPH oxidase, but also for P2X7, and contributes to the
            innate immune reaction
REFERENCE   4  (bases 1 to 2316)
  AUTHORS   Thomas,D.C., Charbonnier,L.M., Schejtman,A., Aldhekri,H.,
            Coomber,E.L., Dufficy,E.R., Beenken,A.E., Lee,J.C., Clare,S.,
            Speak,A.O., Thrasher,A.J., Santilli,G., Al-Mousa,H., Alkuraya,F.S.,
            Chatila,T.A. and Smith,K.G.C.
  TITLE     EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic
            granulomatous disease
  JOURNAL   J Allergy Clin Immunol 143 (2), 782-785 (2019)
   PUBMED   30312704
  REMARK    GeneRIF: this study shows that the function of EROS is fully
            conserved between human and mouse, and that homozygous mutations in
            EROS underlie a novel sixth cause of chronic granulomatous disease
REFERENCE   5  (bases 1 to 2316)
  AUTHORS   Arnadottir,G.A., Norddahl,G.L., Gudmundsdottir,S.,
            Agustsdottir,A.B., Sigurdsson,S., Jensson,B.O., Bjarnadottir,K.,
            Theodors,F., Benonisdottir,S., Ivarsdottir,E.V., Oddsson,A.,
            Kristjansson,R.P., Sulem,G., Alexandersson,K.F., Juliusdottir,T.,
            Gudmundsson,K.R., Saemundsdottir,J., Jonasdottir,A.,
            Jonasdottir,A., Sigurdsson,A., Manzanillo,P., Gudjonsson,S.A.,
            Thorisson,G.A., Magnusson,O.T., Masson,G., Orvar,K.B., Holm,H.,
            Bjornsson,S., Arngrimsson,R., Gudbjartsson,D.F.,
            Thorsteinsdottir,U., Jonsdottir,I., Haraldsson,A., Sulem,P. and
            Stefansson,K.
  TITLE     A homozygous loss-of-function mutation leading to CYBC1 deficiency
            causes chronic granulomatous disease
  JOURNAL   Nat Commun 9 (1), 4447 (2018)
   PUBMED   30361506
  REMARK    GeneRIF: CYBC1 deficiency results in chronic granulomatous disease
            characterized by colitis and a distinct profile of infections
            indicative of macrophage dysfunction.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2316)
  AUTHORS   Skibola,C.F., Berndt,S.I., Vijai,J., Conde,L., Wang,Z., Yeager,M.,
            de Bakker,P.I., Birmann,B.M., Vajdic,C.M., Foo,J.N., Bracci,P.M.,
            Vermeulen,R.C., Slager,S.L., de Sanjose,S., Wang,S.S., Linet,M.S.,
            Salles,G., Lan,Q., Severi,G., Hjalgrim,H., Lightfoot,T., Melbye,M.,
            Gu,J., Ghesquieres,H., Link,B.K., Morton,L.M., Holly,E.A.,
            Smith,A., Tinker,L.F., Teras,L.R., Kricker,A., Becker,N.,
            Purdue,M.P., Spinelli,J.J., Zhang,Y., Giles,G.G., Vineis,P.,
            Monnereau,A., Bertrand,K.A., Albanes,D., Zeleniuch-Jacquotte,A.,
            Gabbas,A., Chung,C.C., Burdett,L., Hutchinson,A., Lawrence,C.,
            Montalvan,R., Liang,L., Huang,J., Ma,B., Liu,J., Adami,H.O.,
            Glimelius,B., Ye,Y., Nowakowski,G.S., Dogan,A., Thompson,C.A.,
            Habermann,T.M., Novak,A.J., Liebow,M., Witzig,T.E., Weiner,G.J.,
            Schenk,M., Hartge,P., De Roos,A.J., Cozen,W., Zhi,D., Akers,N.K.,
            Riby,J., Smith,M.T., Lacher,M., Villano,D.J., Maria,A., Roman,E.,
            Kane,E., Jackson,R.D., North,K.E., Diver,W.R., Turner,J.,
            Armstrong,B.K., Benavente,Y., Boffetta,P., Brennan,P., Foretova,L.,
            Maynadie,M., Staines,A., McKay,J., Brooks-Wilson,A.R., Zheng,T.,
            Holford,T.R., Chamosa,S., Kaaks,R., Kelly,R.S., Ohlsson,B.,
            Travis,R.C., Weiderpass,E., Clavel,J., Giovannucci,E., Kraft,P.,
            Virtamo,J., Mazza,P., Cocco,P., Ennas,M.G., Chiu,B.C.,
            Fraumeni,J.F. Jr., Nieters,A., Offit,K., Wu,X., Cerhan,J.R.,
            Smedby,K.E., Chanock,S.J. and Rothman,N.
  TITLE     Genome-wide association study identifies five susceptibility loci
            for follicular lymphoma outside the HLA region
  JOURNAL   Am J Hum Genet 95 (4), 462-471 (2014)
   PUBMED   25279986
REFERENCE   7  (bases 1 to 2316)
  AUTHORS   Deng,X., Zhao,H.S., Peng,Z., Deng,W.W., Li,N., Guo,S. and Shi,T.P.
  TITLE     [Study on the mechanism of C17orf62 induced cell death]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 43 (2), 168-172 (2011)
   PUBMED   21503106
REFERENCE   8  (bases 1 to 2316)
  AUTHORS   Miyamoto-Sato,E., Fujimori,S., Ishizaka,M., Hirai,N., Masuoka,K.,
            Saito,R., Ozawa,Y., Hino,K., Washio,T., Tomita,M., Yamashita,T.,
            Oshikubo,T., Akasaka,H., Sugiyama,J., Matsumoto,Y. and Yanagawa,H.
  TITLE     A comprehensive resource of interacting protein regions for
            refining human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2316)
  AUTHORS   Imabayashi,H., Mori,T., Gojo,S., Kiyono,T., Sugiyama,T., Irie,R.,
            Isogai,T., Hata,J., Toyama,Y. and Umezawa,A.
  TITLE     Redifferentiation of dedifferentiated chondrocytes and
            chondrogenesis of human bone marrow stromal cells via chondrosphere
            formation with expression profiling by large-scale cDNA analysis
  JOURNAL   Exp Cell Res 288 (1), 35-50 (2003)
   PUBMED   12878157
REFERENCE   10 (bases 1 to 2316)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG338078.1, AC132938.9 and BU734211.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001193655.1.
            
            Transcript Variant: This variant (6) contains a different segment
            for its 5' UTR, compared to variant 1. Variants 1, 4, 5, 6, and 7
            all encode isoform a.
            
            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 :: SRR18074969.848618.1,
                                           SRR14038195.251707.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-632               BG338078.1         2-633
            633-777             AC132938.9         22328-22472
            778-2249            AC132938.9         22795-24266
            2250-2316           BU734211.1         16-82               c
FEATURES             Location/Qualifiers
     source          1..2316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2316
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="cytochrome b-245 chaperone 1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
     exon            1..296
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            297..419
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..898
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="isoform a is encoded by transcript variant 6;
                     uncharacterized protein C17orf62; essential for reactive
                     oxygen species protein"
                     /codon_start=1
                     /product="cytochrome b-245 chaperone 1 isoform a"
                     /protein_id="NP_001180584.1"
                     /db_xref="CCDS:CCDS32776.1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
                     /translation="MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDS
                     LGWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVV
                     LLHDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSF
                     LELHCLESPTELSQSSDSEAGDPASQS"
     exon            420..461
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            462..535
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            536..632
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            633..777
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            778..2316
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2237..2242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="hexamer: CATAAA"
     polyA_site      2259
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="major polyA site"
     polyA_site      2316
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
ORIGIN      
        1 gccagtacgg ccggaagcca tgatgggact ttcagttcct ttcttggtgg aggccagcac
       61 aggggagagg gggtgcccac agatgctaga agcttaaagg ctgctggggg ctagcggcct
      121 caggacataa ggtttccaga caggacgggg caggtggtga tgcagctgta gctcgtgagt
      181 ctgagcggga aacagccccc gcgcagtcgg tgtcgctgtg aacggaaaag ggccttcctt
      241 acacaggaaa cggggtctct gggggatcca gtgacgtgcc caaccacaga gaccagaccc
      301 ctcctcctgt agagagtggt gctgccctct cgggatgtac ctgcaggtgg agacccgcac
      361 cagctcccgc ctccatctga agagggctcc aggcatccgg tcctggtccc tgctggttgg
      421 aatcttgtcg attggcctgg ctgctgccta ctacagcgga gatagcctgg gctggaagct
      481 cttctacgtc acaggctgcc tgtttgtggc tgtgcagaac ttggaggact gggaggaagc
      541 catcttcgac aagagcacag ggaaggttgt tttgaagacg ttcagcctct acaagaagct
      601 gctgactctt ttcagagctg gccacgacca ggtggtggtc ctgctccatg atgtccgtga
      661 tgtgagcgtg gaggaggaga aggtccggta cttcgggaaa ggctacatgg tggtgctccg
      721 gcttgcgacg ggcttctccc accccctcac gcagagtgca gtcatgggcc accgcagtga
      781 tgtggaagcc atcgccaagc tcatcaccag cttcctggag ctgcactgcc ttgagagccc
      841 cacagagctg tctcagagca gcgacagtga ggccggtgac cctgcaagcc agagctgaca
      901 gccccactgt gcctgagccc gtgcaccgcc cacaggaccc atggcacatt cccggtgtgc
      961 ctgagcccgt gcaccgccca caggacccgt ggcacattcc cggtgtgcct gagcccgtgc
     1021 accgcccaca ggacccgtgg cacattcccg gtgtgcctga gcccgtgcac cgcccacagg
     1081 acccgtggca cattcccggt gtgcctgagc ccgtgcaccg cccacaggac ccgtggcctt
     1141 ggcttcagtt ggtgcctcca gccgagttgg cctattgcct gctcatgctg ctgcttgcac
     1201 actgcatgaa acagcaggcc agaccaggac atccagactt tctccatcgt gaggcctggg
     1261 cctgcctttc tgcagccgga ggtctcgcca gccctggact cctgctttgg gccacagcaa
     1321 gacctcgggc gagtggagag gcggggccag gccgggccct tgtgggtgct gatgctgcat
     1381 gttgtccccg acacagcgtc ctctccctgg tggacatccc cagcggtcag gtgcttcccc
     1441 aagggcagtg aggggtgaac atccagggcc tacctggctg tgcacgctgc agccacactg
     1501 tggaagctgc ccctccccga ggacccgcct cccttgctga tgccaggatc tcggcgcata
     1561 gaccactctg ccccagcggt cgtcacagaa aggtctctct gttcctcaca ctcagcttca
     1621 gcataagctg tgaggccaga aaaaaggtca gctcttctag tatcgtgcag tgcttaaaaa
     1681 ccgggagctc cagccgggcg cagtggttca tgccagtaat cccagcactt tcggaggccg
     1741 aggtgggagg attgcttgag gccaggagtt caagaccagc ctgggcaaca cagcaagatc
     1801 ctgtctttgt aaaaaaacta accaaacagg aaaaactggg agattttctg cagaaattga
     1861 gttccagcct ctctcgaacc tgggaagacc tggcaggagg gggctgggct ctcggctaca
     1921 gacttctccc caccccgtag gagctgaacg ccaaccatcc tgacccgcca gtgctcttgg
     1981 tctcctgagt gtacccaggt cctcccaggt gcggtgtgca ccgagcgcgc ctggcctgat
     2041 gccctggcct gtgagctggg gactcctggg ccctgtgagc ccctaggcgg caggcccagg
     2101 aatggctggg taggacaggg aacacctttg ccccacgtct ggctgtgacc tcggtgaaag
     2161 ccgacaggag agagatggga ccctcctcct cagtagtggc tgccagtccc tcgttgcagg
     2221 acagggtcat cataaccata aataaccctt cacgtgtcac ctgcagcttc cactctttat
     2281 ttccaaagaa tcagtgtcac acatgcagat cacaaa
//
