LOCUS       NM_016243               1624 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.
ACCESSION   NM_016243
VERSION     NM_016243.3
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 1624)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1624)
  AUTHORS   Proskurnina,E.V., Fedorova,M.V., Sozarukova,M.M., Mitichkin,A.E.,
            Panteleev,I.V. and Svetlov,E.V.
  TITLE     Microsomal reductase activity in patients with thyroid neoplasms
  JOURNAL   Endocrine 72 (3), 735-743 (2021)
   PUBMED   33011882
  REMARK    GeneRIF: Microsomal reductase activity in patients with thyroid
            neoplasms.
REFERENCE   3  (bases 1 to 1624)
  AUTHORS   Yan,B., Ai,Y., Sun,Q., Ma,Y., Cao,Y., Wang,J., Zhang,Z. and Wang,X.
  TITLE     Membrane Damage during Ferroptosis Is Caused by Oxidation of
            Phospholipids Catalyzed by the Oxidoreductases POR and CYB5R1
  JOURNAL   Mol Cell 81 (2), 355-369 (2021)
   PUBMED   33321093
  REMARK    GeneRIF: Membrane Damage during Ferroptosis Is Caused by Oxidation
            of Phospholipids Catalyzed by the Oxidoreductases POR and CYB5R1.
REFERENCE   4  (bases 1 to 1624)
  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   5  (bases 1 to 1624)
  AUTHORS   Woischke,C., Blaj,C., Schmidt,E.M., Lamprecht,S., Engel,J.,
            Hermeking,H., Kirchner,T. and Horst,D.
  TITLE     CYB5R1 links epithelial-mesenchymal transition and poor prognosis
            in colorectal cancer
  JOURNAL   Oncotarget 7 (21), 31350-31360 (2016)
   PUBMED   27120783
  REMARK    GeneRIF: Data show that cytochrome b5 reductase 1 (CYB5R1) gene
            expression is strongly linked to epithelial-mesenchymal transition
            (EMT) in colon cancer.
REFERENCE   6  (bases 1 to 1624)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 1624)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1624)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   9  (bases 1 to 1624)
  AUTHORS   Zhu,H., Qiu,H., Yoon,H.W., Huang,S. and Bunn,H.F.
  TITLE     Identification of a cytochrome b-type NAD(P)H oxidoreductase
            ubiquitously expressed in human cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 14742-14747 (1999)
   PUBMED   10611283
REFERENCE   10 (bases 1 to 1624)
  AUTHORS   Qian,W., Sun,Y.L., Wang,Y.H., Zhuang,J.H., Xie,Y. and Huang,Z.X.
  TITLE     The influence of mutation at Glu44 and Glu56 of cytochrome b5 on
            the protein's stabilization and interaction between cytochrome c
            and cytochrome b5
  JOURNAL   Biochemistry 37 (40), 14137-14150 (1998)
   PUBMED   9760250
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY359026.1 and BC018732.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016243.2.
            
            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 :: AK223416.1, SRR3476690.63487.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367249.9/ ENSP00000356218.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1141              AY359026.1         24-1164
            1142-1624           BC018732.1         1118-1600
FEATURES             Location/Qualifiers
     source          1..1624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1624
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /note="cytochrome b5 reductase 1"
                     /db_xref="GeneID:51706"
                     /db_xref="HGNC:HGNC:13397"
                     /db_xref="MIM:608341"
     exon            1..67
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..970
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /EC_number="1.6.2.2"
                     /note="NAD(P)H:quinone oxidoreductase type 3, polypeptide
                     A2"
                     /codon_start=1
                     /product="NADH-cytochrome b5 reductase 1"
                     /protein_id="NP_057327.2"
                     /db_xref="CCDS:CCDS1431.1"
                     /db_xref="GeneID:51706"
                     /db_xref="HGNC:HGNC:13397"
                     /db_xref="MIM:608341"
                     /translation="MGIQTSPVLLASLGVGLVTLLGLAVGSYLVRRSRRPQVTLLDPN
                     EKYLLRLLDKTTVSHNTKRFRFALPTAHHTLGLPVGKHIYLSTRIDGSLVIRPYTPVT
                     SDEDQGYVDLVIKVYLKGVHPKFPEGGKMSQYLDSLKVGDVVEFRGPSGLLTYTGKGH
                     FNIQPNKKSPPEPRVAKKLGMIAGGTGITPMLQLIRAILKVPEDPTQCFLLFANQTEK
                     DIILREDLEELQARYPNRFKLWFTLDHPPKDWAYSKGFVTADMIREHLPAPGDDVLVL
                     LCGPPPMVQLACHPNLDKLGYSQKMRFTY"
     exon            68..217
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            218..290
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            291..397
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            398..527
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            528..611
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            612..697
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            698..797
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     exon            798..1624
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1589..1594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /note="hexamer: AATAAA"
     polyA_site      1624
                     /gene="CYB5R1"
                     /gene_synonym="B5R.1; B5R1; B5R2; humb5R2; NQO3A2"
                     /note="major polyA site"
ORIGIN      
        1 gcattgtggg atctgtcggc ttgtcaggtg gtggaggaaa aggcgctccg tcatggggat
       61 ccagacgagc cccgtcctgc tggcctccct gggggtgggg ctggtcactc tgctcggcct
      121 ggctgtgggc tcctacttgg ttcggaggtc ccgccggcct caggtcactc tcctggaccc
      181 caatgaaaag tacctgctac gactgctaga caagacgact gtgagccaca acaccaagag
      241 gttccgcttt gccctgccca ccgcccacca cactctgggg ctgcctgtgg gcaaacatat
      301 ctacctctcc acccgaattg atggcagcct ggtcatcagg ccatacactc ctgtcaccag
      361 tgatgaggat caaggctatg tggatcttgt catcaaggtc tacctgaagg gtgtgcaccc
      421 caaatttcct gagggaggga agatgtctca gtacctggat agcctgaagg ttggggatgt
      481 ggtggagttt cgggggccaa gcgggttgct cacttacact ggaaaagggc attttaacat
      541 tcagcccaac aagaaatctc caccagaacc ccgagtggcg aagaaactgg gaatgattgc
      601 cggcgggaca ggaatcaccc caatgctaca gctgatccgg gccatcctga aagtccctga
      661 agatccaacc cagtgctttc tgctttttgc caaccagaca gaaaaggata tcatcttgcg
      721 ggaggactta gaggaactgc aggcccgcta tcccaatcgc tttaagctct ggttcactct
      781 ggatcatccc ccaaaagatt gggcctacag caagggcttt gtgactgccg acatgatccg
      841 ggaacacctg cccgctccag gggatgatgt gctggtactg ctttgtgggc cacccccaat
      901 ggtgcagctg gcctgccatc ccaacttgga caaactgggc tactcacaaa agatgcgatt
      961 cacctactga gcatcctcca gcttccctgg tgctgttcgc tgcagttgtt ccccatcagt
     1021 actcaagcac tataagcctt agattccttt cctcagagtt tcaggttttt tcagttacat
     1081 ctagagctga aatctggata gtacctgcag gaacaatatt cctgtagcca tggaagaggg
     1141 ccaaggctca gtcactcctt ggatggcctc ctaaatctcc ccgtggcaac aggtccagga
     1201 gaggcccatg gagcagtctc ttccatggag taagaaggaa gggagcatgt acgcttggtc
     1261 caagattggc tagttccttg atagcatctt actctcacct tctttgtgtc tgtgatgaaa
     1321 ggaacagtct gtgcaatggg ttttacttaa acttcactgt tcaacctatg agcaaatctg
     1381 tatgtgtgag tataagttga gcatagcata cttccagagg tggtcttatg gagatggcaa
     1441 gaaaggagga aatgatttct tcagatctca aaggagtctg aaatatcata tttctgtgtg
     1501 tgtctctctc agcccctgcc caggctagag ggaaacagct actgataatc gaaaactgct
     1561 gtttgtggca ggaacccctg gctgtgcaaa taaatggggc tgaggcccct gtgtgatatt
     1621 gaaa
//
