LOCUS       NM_016417               1103 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens glutaredoxin 5 (GLRX5), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_016417
VERSION     NM_016417.3
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 1103)
  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 1103)
  AUTHORS   Sankaran,B.P., Gupta,S., Tchan,M., Devanapalli,B., Rahman,Y.,
            Procopis,P. and Bhattacharya,K.
  TITLE     GLRX5-associated [Fe-S] cluster biogenesis disorder: further
            characterisation of the neurological phenotype and long-term
            outcome
  JOURNAL   Orphanet J Rare Dis 16 (1), 465 (2021)
   PUBMED   34732213
  REMARK    GeneRIF: GLRX5-associated [Fe-S] cluster biogenesis disorder:
            further characterisation of the neurological phenotype and
            long-term outcome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1103)
  AUTHORS   Saudino,G., Suraci,D., Nasta,V., Ciofi-Baffoni,S. and Banci,L.
  TITLE     Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2
            Caused by CYS59TYR BOLA3 Mutation
  JOURNAL   Int J Mol Sci 22 (9), 4848 (2021)
   PUBMED   34063696
  REMARK    GeneRIF: Molecular Basis of Multiple Mitochondrial Dysfunctions
            Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1103)
  AUTHORS   Sen,S., Hendricks,A.L. and Cowan,J.A.
  TITLE     Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric
            BOLA1-GLRX5
  JOURNAL   FEBS J 288 (3), 920-929 (2021)
   PUBMED   32542995
  REMARK    GeneRIF: Cluster exchange reactivity of [2Fe-2S]-bridged
            heterodimeric BOLA1-GLRX5.
REFERENCE   5  (bases 1 to 1103)
  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   6  (bases 1 to 1103)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1103)
  AUTHORS   Ye,H., Jeong,S.Y., Ghosh,M.C., Kovtunovych,G., Silvestri,L.,
            Ortillo,D., Uchida,N., Tisdale,J., Camaschella,C. and Rouault,T.A.
  TITLE     Glutaredoxin 5 deficiency causes sideroblastic anemia by
            specifically impairing heme biosynthesis and depleting cytosolic
            iron in human erythroblasts
  JOURNAL   J Clin Invest 120 (5), 1749-1761 (2010)
   PUBMED   20364084
  REMARK    GeneRIF: Glutaredoxin 5 deficiency causes sideroblastic anemia by
            specifically impairing heme biosynthesis and depleting cytosolic
            iron in human erythroblasts
REFERENCE   8  (bases 1 to 1103)
  AUTHORS   Bergmann,A.K., Campagna,D.R., McLoughlin,E.M., Agarwal,S.,
            Fleming,M.D., Bottomley,S.S. and Neufeld,E.J.
  TITLE     Systematic molecular genetic analysis of congenital sideroblastic
            anemia: evidence for genetic heterogeneity and identification of
            novel mutations
  JOURNAL   Pediatr Blood Cancer 54 (2), 273-278 (2010)
   PUBMED   19731322
  REMARK    GeneRIF: No GLRX5 mutations were found among sixty CSA probands
            examined
REFERENCE   9  (bases 1 to 1103)
  AUTHORS   Camaschella,C., Campanella,A., De Falco,L., Boschetto,L.,
            Merlini,R., Silvestri,L., Levi,S. and Iolascon,A.
  TITLE     The human counterpart of zebrafish shiraz shows sideroblastic-like
            microcytic anemia and iron overload
  JOURNAL   Blood 110 (4), 1353-1358 (2007)
   PUBMED   17485548
  REMARK    GeneRIF: Mutations in GLRX5 is associated with sideroblastic-like
            microcytic anemia and iron overload
REFERENCE   10 (bases 1 to 1103)
  AUTHORS   Wingert,R.A., Galloway,J.L., Barut,B., Foott,H., Fraenkel,P.,
            Axe,J.L., Weber,G.J., Dooley,K., Davidson,A.J., Schmid,B.,
            Paw,B.H., Shaw,G.C., Kingsley,P., Palis,J., Schubert,H., Chen,O.,
            Kaplan,J. and Zon,L.I.
  CONSRTM   Tubingen 2000 Screen Consortium
  TITLE     Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for
            vertebrate haem synthesis
  JOURNAL   Nature 436 (7053), 1035-1039 (2005)
   PUBMED   16110529
  REMARK    Erratum:[Nature. 2005 Oct 6;437(7060):920. Schmidt, Bettina
            [corrected to Schmid, Bettina]]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX248075.1, BC047680.1,
            BI834047.1 and AI089763.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016417.2.
            
            Summary: This gene encodes a mitochondrial protein, which is
            evolutionarily conserved. It is involved in the biogenesis of
            iron-sulfur clusters, which are required for normal iron
            homeostasis. Mutations in this gene are associated with autosomal
            recessive pyridoxine-refractory sideroblastic anemia. [provided by
            RefSeq, May 2010].
            
            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 :: SRR1163658.220860.1,
                                           SRR1163655.305522.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000331334.5/
                                                  ENSP00000328570.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-971               BX248075.1         18-988
            972-995             BC047680.1         982-1005
            996-1011            BI834047.1         809-824
            1012-1103           AI089763.1         16-107              c
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..1103
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="glutaredoxin 5"
                     /db_xref="GeneID:51218"
                     /db_xref="HGNC:HGNC:20134"
                     /db_xref="MIM:609588"
     exon            1..335
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..514
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="glutaredoxin-related protein 5, mitochondrial;
                     monothiol glutaredoxin-5; glutaredoxin 5 homolog;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="glutaredoxin-related protein 5, mitochondrial
                     precursor"
                     /protein_id="NP_057501.2"
                     /db_xref="CCDS:CCDS9936.1"
                     /db_xref="GeneID:51218"
                     /db_xref="HGNC:HGNC:20134"
                     /db_xref="MIM:609588"
                     /translation="MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQ
                     LDALVKKDKVVVFLKGTPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKD
                     YSNWPTIPQVYLNGEFVGGCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK"
     exon            336..1103
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      960..965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="hexamer: AATAAA"
     polyA_site      995
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="major polyA site"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="hexamer: ATTAAA"
     polyA_site      1103
                     /gene="GLRX5"
                     /gene_synonym="C14orf87; FLB4739; GRX5; PR01238; PRO1238;
                     PRSA; SIDBA3; SPAHGC"
                     /note="major polyA site"
ORIGIN      
        1 gtgggcccgg gccgtcgtgg gctccggctt gcgtgcggag atgagcgggt ccctcggccg
       61 agctgcggcg gctctgctcc gctgggggcg cggcgcgggc ggcggtggcc tttggggtcc
      121 gggcgtgcgg gcggcgggct cgggcgcggg cggcggcggc tcggcggagc agttggacgc
      181 gctggtgaag aaggacaagg tggtggtctt cctcaagggg acgccggagc agccccagtg
      241 cggcttcagc aacgccgtgg tgcagatcct gcggctgcac ggcgtccgcg attacgcggc
      301 ctacaacgtg ctggacgacc cggagctccg acaaggcatt aaagactatt ccaactggcc
      361 caccatcccg caagtgtacc tcaatggcga gtttgtaggg ggctgtgaca ttcttctgca
      421 gatgcaccag aatggggact tggtggaaga actgaaaaag ctggggatcc actccgccct
      481 tttagatgaa aagaaagacc aagactccaa gtgagggcgg ccaagtcctc gctgagcaga
      541 gagggagccg ttcatgtcag agactcactg ccagaaaagc cttacccatt ttggttttca
      601 ctattgagac cgcaactgct tgcactgatc attttggttc gtgagcagtt ggtgatttta
      661 gttggtctgg tgttcgggct aagaatattt tattgtggac ttaattacaa ccactgcact
      721 gtaatgattc aatgctgtat tatgatattg ctgtaaacaa aattcattct tatattgtca
      781 cttattcttt gcctgattca gaagttaaat aggagctttg gaatcattat tcatgacccc
      841 tctgcaaatg tgtcagtctc caaagagagt atctcccccc aaattttgtg tagcttcttt
      901 tgttatggaa aatggtgaac aaaaaaagaa actgtgataa ctggggcgtt gttttttaaa
      961 ataaactcca gcacagggat gctgtgcatg cctgagttga ttccgaagtg catatgtctg
     1021 taaggatttg gagtgcctgc agtgttttat gtgtgggaag taagggtgag tctcatattc
     1081 ttctattaaa tttgccacaa gaa
//
