LOCUS       NM_182701               1712 bp    mRNA    linear   PRI 30-JUL-2024
DEFINITION  Homo sapiens glutathione peroxidase 6 (GPX6), mRNA.
ACCESSION   NM_182701
VERSION     NM_182701.1
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 1712)
  AUTHORS   Usategui-Martin,R., Perez-Castrillon,J.L., Mansego,M.L.,
            Lara-Hernandez,F., Manzano,I., Briongos,L., Abadia-Otero,J.,
            Martin-Vallejo,J., Garcia-Garcia,A.B., Martin-Escudero,J.C. and
            Chaves,F.J.
  TITLE     Association between genetic variants in oxidative stress-related
            genes and osteoporotic bone fracture. The Hortega follow-up study
  JOURNAL   Gene 809, 146036 (2022)
   PUBMED   34688818
  REMARK    GeneRIF: Association between genetic variants in oxidative
            stress-related genes and osteoporotic bone fracture. The Hortega
            follow-up study.
REFERENCE   2  (bases 1 to 1712)
  AUTHORS   Mariotti,M., Ridge,P.G., Zhang,Y., Lobanov,A.V., Pringle,T.H.,
            Guigo,R., Hatfield,D.L. and Gladyshev,V.N.
  TITLE     Composition and evolution of the vertebrate and mammalian
            selenoproteomes
  JOURNAL   PLoS One 7 (3), e33066 (2012)
   PUBMED   22479358
REFERENCE   3  (bases 1 to 1712)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 1712)
  AUTHORS   Moyer,A.M., Sun,Z., Batzler,A.J., Li,L., Schaid,D.J., Yang,P. and
            Weinshilboum,R.M.
  TITLE     Glutathione pathway genetic polymorphisms and lung cancer survival
            after platinum-based chemotherapy
  JOURNAL   Cancer Epidemiol Biomarkers Prev 19 (3), 811-821 (2010)
   PUBMED   20200426
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1712)
  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   6  (bases 1 to 1712)
  AUTHORS   Kryukov,G.V., Castellano,S., Novoselov,S.V., Lobanov,A.V.,
            Zehtab,O., Guigo,R. and Gladyshev,V.N.
  TITLE     Characterization of mammalian selenoproteomes
  JOURNAL   Science 300 (5624), 1439-1443 (2003)
   PUBMED   12775843
REFERENCE   7  (bases 1 to 1712)
  AUTHORS   Richard,M.J., Guiraud,P., Didier,C., Seve,M., Flores,S.C. and
            Favier,A.
  TITLE     Human immunodeficiency virus type 1 Tat protein impairs
            selenoglutathione peroxidase expression and activity by a mechanism
            independent of cellular selenium uptake: consequences on cellular
            resistance to UV-A radiation
  JOURNAL   Arch Biochem Biophys 386 (2), 213-220 (2001)
   PUBMED   11368344
REFERENCE   8  (bases 1 to 1712)
  AUTHORS   Choi,J., Liu,R.M., Kundu,R.K., Sangiorgi,F., Wu,W., Maxson,R. and
            Forman,H.J.
  TITLE     Molecular mechanism of decreased glutathione content in human
            immunodeficiency virus type 1 Tat-transgenic mice
  JOURNAL   J Biol Chem 275 (5), 3693-3698 (2000)
   PUBMED   10652368
REFERENCE   9  (bases 1 to 1712)
  AUTHORS   Opalenik,S.R., Ding,Q., Mallery,S.R. and Thompson,J.A.
  TITLE     Glutathione depletion associated with the HIV-1 TAT protein
            mediates the extracellular appearance of acidic fibroblast growth
            factor
  JOURNAL   Arch Biochem Biophys 351 (1), 17-26 (1998)
   PUBMED   9501919
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY324826.1.
            
            Summary: The protein encoded by this gene belongs to the
            glutathione peroxidase family, members of which catalyze the
            reduction of hydrogen peroxide, organic hydroperoxides and lipid
            hydroperoxides, and thereby protect cells against oxidative damage.
            Several isozymes of this gene family exist in vertebrates, which
            vary in cellular location and substrate specificity. Expression of
            this gene has been observed in embryos and olfactory epithelium;
            however, the exact function of this gene is not known. This isozyme
            is a selenoprotein in humans, containing the rare amino acid
            selenocysteine (Sec) at its active site. Sec is encoded by the UGA
            codon, which normally signals translation termination. The 3' UTRs
            of selenoprotein mRNAs contain a conserved stem-loop structure,
            designated the Sec insertion sequence (SECIS) element, that is
            necessary for the recognition of UGA as a Sec codon, rather than as
            a stop signal. The orthologs of this gene in mouse and rat (and
            some other species) contain a cysteine (Cys) residue in place of
            the Sec residue, and their corresponding mRNAs lack SECIS element.
            [provided by RefSeq, Jul 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY324826.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000361902.5/
                                               ENSP00000354581.1
            protein contains selenocysteine :: PMID: 12775843
            RefSeq Select criteria          :: based on single protein-coding
                                               transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..1712
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /note="glutathione peroxidase 6"
                     /db_xref="GeneID:257202"
                     /db_xref="HGNC:HGNC:4558"
                     /db_xref="MIM:607913"
     exon            1..137
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..716
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /EC_number="1.11.1.9"
                     /note="UGA stop codon recoded as selenocysteine;
                     glutathione peroxidase 6 (olfactory); selenoprotein GPX6"
                     /codon_start=1
                     /transl_except=(pos:267..269,aa:Sec)
                     /product="glutathione peroxidase 6 precursor"
                     /protein_id="NP_874360.1"
                     /db_xref="CCDS:CCDS43432.1"
                     /db_xref="GeneID:257202"
                     /db_xref="HGNC:HGNC:4558"
                     /db_xref="MIM:607913"
                     /translation="MFQQFQASCLVLFFLVGFAQQTLKPQNRKVDCNKGVTGTIYEYG
                     ALTLNGEEYIQFKQFAGKHVLFVNVAAYUGLAAQYPELNALQEELKNFGVIVLAFPCN
                     QFGKQEPGTNSEILLGLKYVCPGSGFVPSFQLFEKGDVNGEKEQKVFTFLKNSCPPTS
                     DLLGSSSQLFWEPMKVHDIRWNFEKFLVGPDGVPVMHWFHQAPVSTVKSDILEYLKQF
                     NTH"
     exon            138..291
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /inference="alignment:Splign:2.1.0"
     exon            292..409
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /inference="alignment:Splign:2.1.0"
     exon            410..509
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /inference="alignment:Splign:2.1.0"
     exon            510..1712
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1335..1408
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="GPX6"
                     /gene_synonym="dJ1186N24; dJ1186N24.1; GPx-6; GPX5p;
                     GPXP3; GSHPx-6"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
ORIGIN      
        1 aaaaggggct gaaatcctgg ggacctcaga gtcgtctaaa actcctagcc atgttccagc
       61 agttccaggc ctcctgtctt gtcctgtttt tcctggttgg ctttgctcag cagaccctaa
      121 agcctcaaaa taggaaggtg gattgcaaca aaggggtaac aggcaccatc tatgagtatg
      181 gagccctcac cctcaacggc gaggagtaca tccaattcaa gcagtttgca ggcaagcacg
      241 tcctgtttgt caatgtggcc gcctattgag gcttggcagc tcagtatcct gaactgaatg
      301 cactacagga ggagctgaag aattttggtg tcattgtgtt ggcctttccc tgcaaccagt
      361 ttggaaaaca agaaccagga acaaactcag aaatacttct tggtctcaag tatgtgtgtc
      421 caggtagtgg ctttgtcccc agtttccagc tctttgagaa aggggatgtg aatggagaaa
      481 aagaacagaa ggtctttact ttcctgaaga actcctgccc tccgacctct gatcttttgg
      541 gctcatcaag ccaactcttc tgggagccca tgaaggtcca tgatatccgc tggaactttg
      601 agaaatttct ggtggggccc gatggagtcc ctgtcatgca ttggttccac caggctccag
      661 tcagcacagt caagtcagac atcctggagt acctaaagca gttcaatacc cactaggaag
      721 ggctagcgac tgacagaaat aactaccctg tctcccacct gcaggaatgt ctaacaaagc
      781 atccatcttc ctccttcttt gctccacact cgtgcctacc cagcctcctg atgaccaaac
      841 catcctgtac tacccaagca cctgcttagc atgtgtgtgt agctgtgtgt gtgtgtgtgt
      901 gtgtgtgtat ggatatgtag aattgtattt gttggtatat gcataggtgt atgtatggtg
      961 tgtgtgtgtg tgtgtgtgtg tgtgtttgaa gattaaggaa aagaacacct atctctccaa
     1021 ctctctgatc ctgaaatatc tattccaaag gaaaatcata ttttagggta gatgaatcag
     1081 actatcctgt gtccctaaaa aagcaatccc gagaagttgt gacatctatc ccttcccctt
     1141 cctgaaagtt ttaaagaaag caggagctgg ccgcaagact ctaggcctcc ttcatagcct
     1201 ctctcctcta agataggcat gcattgttaa actcttttct ccttaattct cctttattcc
     1261 cctgccaccc agtagttctc atgtaggacc tctgaaggca gagtgagagc agaaacccca
     1321 cctcacatga agggaagggc atctccatga tggtggatcc caaaacccct ctgggtcgca
     1381 ccctgccaga gccttccttg gtgcctgtcc cttagtgcat tcaggtcatg gcacctgggc
     1441 aggggtgtcc ctgtattctg aatgatgggc tttctcctca ccctgagcct cctcaacttt
     1501 aagcttattt tgatcactgt ctcaaattta aaaattctgc agcaacctgg ctctgtgtgg
     1561 tgttttccca gtcccatatt atgtccagtc atacttcttc tttctctgtc actttgtccc
     1621 tgctttcttg attcccttgt cttgttcttc agtattttgt ttttctcaaa aatgctctag
     1681 aactttcctt ggcacatata aaagcacggc tg
//
