LOCUS       NM_001033046            2073 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens cytochrome b-245 chaperone 1 (CYBC1), transcript
            variant 2, mRNA.
ACCESSION   NM_001033046
VERSION     NM_001033046.4
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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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 2073)
  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
            DA342707.1, BC004171.2 and BU734211.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001033046.3.
            
            Transcript Variant: This variant (2) differs in the 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 :: SRR18074968.1259613.1, BC004171.2
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306645.10/ ENSP00000307765.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                DA342707.1         70-106
            38-2016             BC004171.2         1-1979
            2017-2073           BU734211.1         16-72               c
FEATURES             Location/Qualifiers
     source          1..2073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2073
                     /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..53
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            54..176
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..655
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="isoform a is encoded by transcript variant 2;
                     uncharacterized protein C17orf62; essential for reactive
                     oxygen species protein"
                     /codon_start=1
                     /product="cytochrome b-245 chaperone 1 isoform a"
                     /protein_id="NP_001028218.1"
                     /db_xref="CCDS:CCDS32776.1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
                     /translation="MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDS
                     LGWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVV
                     LLHDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSF
                     LELHCLESPTELSQSSDSEAGDPASQS"
     exon            177..218
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            219..292
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            293..389
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            390..534
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     exon            535..2073
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1994..1999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="hexamer: CATAAA"
     polyA_site      2016
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="major polyA site"
     polyA_site      2073
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
ORIGIN      
        1 gcccccgccg gttcgcgtct ctctgctgcg gcgcggggac cgctgtgctc tcgacccctc
       61 ctcctgtaga gagtggtgct gccctctcgg gatgtacctg caggtggaga cccgcaccag
      121 ctcccgcctc catctgaaga gggctccagg catccggtcc tggtccctgc tggttggaat
      181 cttgtcgatt ggcctggctg ctgcctacta cagcggagat agcctgggct ggaagctctt
      241 ctacgtcaca ggctgcctgt ttgtggctgt gcagaacttg gaggactggg aggaagccat
      301 cttcgacaag agcacaggga aggttgtttt gaagacgttc agcctctaca agaagctgct
      361 gactcttttc agagctggcc acgaccaggt ggtggtcctg ctccatgatg tccgtgatgt
      421 gagcgtggag gaggagaagg tccggtactt cgggaaaggc tacatggtgg tgctccggct
      481 tgcgacgggc ttctcccacc ccctcacgca gagtgcagtc atgggccacc gcagtgatgt
      541 ggaagccatc gccaagctca tcaccagctt cctggagctg cactgccttg agagccccac
      601 agagctgtct cagagcagcg acagtgaggc cggtgaccct gcaagccaga gctgacagcc
      661 ccactgtgcc tgagcccgtg caccgcccac aggacccatg gcacattccc ggtgtgcctg
      721 agcccgtgca ccgcccacag gacccgtggc acattcccgg tgtgcctgag cccgtgcacc
      781 gcccacagga cccgtggcac attcccggtg tgcctgagcc cgtgcaccgc ccacaggacc
      841 cgtggcacat tcccggtgtg cctgagcccg tgcaccgccc acaggacccg tggccttggc
      901 ttcagttggt gcctccagcc gagttggcct attgcctgct catgctgctg cttgcacact
      961 gcatgaaaca gcaggccaga ccaggacatc cagactttct ccatcgtgag gcctgggcct
     1021 gcctttctgc agccggaggt ctcgccagcc ctggactcct gctttgggcc acagcaagac
     1081 ctcgggcgag tggagaggcg gggccaggcc gggcccttgt gggtgctgat gctgcatgtt
     1141 gtccccgaca cagcgtcctc tccctggtgg acatccccag cggtcaggtg cttccccaag
     1201 ggcagtgagg ggtgaacatc cagggcctac ctggctgtgc acgctgcagc cacactgtgg
     1261 aagctgcccc tccccgagga cccgcctccc ttgctgatgc caggatctcg gcgcatagac
     1321 cactctgccc cagcggtcgt cacagaaagg tctctctgtt cctcacactc agcttcagca
     1381 taagctgtga ggccagaaaa aaggtcagct cttctagtat cgtgcagtgc ttaaaaaccg
     1441 ggagctccag ccgggcgcag tggttcatgc cagtaatccc agcactttcg gaggccgagg
     1501 tgggaggatt gcttgaggcc aggagttcaa gaccagcctg ggcaacacag caagatcctg
     1561 tctttgtaaa aaaactaacc aaacaggaaa aactgggaga ttttctgcag aaattgagtt
     1621 ccagcctctc tcgaacctgg gaagacctgg caggaggggg ctgggctctc ggctacagac
     1681 ttctccccac cccgtaggag ctgaacgcca accatcctga cccgccagtg ctcttggtct
     1741 cctgagtgta cccaggtcct cccaggtgcg gtgtgcaccg agcgcgcctg gcctgatgcc
     1801 ctggcctgtg agctggggac tcctgggccc tgtgagcccc taggcggcag gcccaggaat
     1861 ggctgggtag gacagggaac acctttgccc cacgtctggc tgtgacctcg gtgaaagccg
     1921 acaggagaga gatgggaccc tcctcctcag tagtggctgc cagtccctcg ttgcaggaca
     1981 gggtcatcat aaccataaat aacccttcac gtgtcacctg cagcttccac tctttatttc
     2041 caaagaatca gtgtcacaca tgcagatcac aaa
//
