LOCUS       NM_012248               2244 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.
ACCESSION   NM_012248
VERSION     NM_012248.4
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 2244)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2244)
  AUTHORS   Nunziata,C., Polo,A., Sorice,A., Capone,F., Accardo,M.,
            Guerriero,E., Marino,F.Z., Orditura,M., Budillon,A. and
            Costantini,S.
  TITLE     Structural analysis of human SEPHS2 protein, a selenocysteine
            machinery component, over-expressed in triple negative breast
            cancer
  JOURNAL   Sci Rep 9 (1), 16131 (2019)
   PUBMED   31695102
  REMARK    GeneRIF: Structural analysis of human SEPHS2 protein, a
            selenocysteine machinery component, over-expressed in triple
            negative breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2244)
  AUTHORS   Oudouhou,F., Casu,B., Dopgwa Puemi,A.S., Sygusch,J. and Baron,C.
  TITLE     Analysis of Novel Interactions between Components of the
            Selenocysteine Biosynthesis Pathway, SEPHS1, SEPHS2, SEPSECS, and
            SECp43
  JOURNAL   Biochemistry 56 (17), 2261-2270 (2017)
   PUBMED   28414460
  REMARK    GeneRIF: Data confirm interactions among components of the early
            steps of the selenocysteine biosynthesis pathway (SEPSECS, SECP43,
            SEPHS1, and SEPHS2); SECP43, which interacts with SEPSECS and
            SEPHS1, is a globular protein that forms oligomers in vivo.
REFERENCE   4  (bases 1 to 2244)
  AUTHORS   Gladyshev,V.N., Arner,E.S., Berry,M.J., Brigelius-Flohe,R.,
            Bruford,E.A., Burk,R.F., Carlson,B.A., Castellano,S., Chavatte,L.,
            Conrad,M., Copeland,P.R., Diamond,A.M., Driscoll,D.M., Ferreiro,A.,
            Flohe,L., Green,F.R., Guigo,R., Handy,D.E., Hatfield,D.L.,
            Hesketh,J., Hoffmann,P.R., Holmgren,A., Hondal,R.J., Howard,M.T.,
            Huang,K., Kim,H.Y., Kim,I.Y., Kohrle,J., Krol,A., Kryukov,G.V.,
            Lee,B.J., Lee,B.C., Lei,X.G., Liu,Q., Lescure,A., Lobanov,A.V.,
            Loscalzo,J., Maiorino,M., Mariotti,M., Sandeep Prabhu,K.,
            Rayman,M.P., Rozovsky,S., Salinas,G., Schmidt,E.E., Schomburg,L.,
            Schweizer,U., Simonovic,M., Sunde,R.A., Tsuji,P.A., Tweedie,S.,
            Ursini,F., Whanger,P.D. and Zhang,Y.
  TITLE     Selenoprotein Gene Nomenclature
  JOURNAL   J Biol Chem 291 (46), 24036-24040 (2016)
   PUBMED   27645994
REFERENCE   5  (bases 1 to 2244)
  AUTHORS   Maciel-Dominguez,A., Swan,D., Ford,D. and Hesketh,J.
  TITLE     Selenium alters miRNA profile in an intestinal cell line: evidence
            that miR-185 regulates expression of GPX2 and SEPSH2
  JOURNAL   Mol Nutr Food Res 57 (12), 2195-2205 (2013)
   PUBMED   23934683
  REMARK    GeneRIF: miR-185 plays a role in up-regulation of GPX2 and SEPHS2
            expression.In the case of SEPHS2 this may contribute to maintaining
            selenoprotein synthesis.
REFERENCE   6  (bases 1 to 2244)
  AUTHORS   Xu,X.M., Carlson,B.A., Zhang,Y., Mix,H., Kryukov,G.V., Glass,R.S.,
            Berry,M.J., Gladyshev,V.N. and Hatfield,D.L.
  TITLE     New developments in selenium biochemistry: selenocysteine
            biosynthesis in eukaryotes and archaea
  JOURNAL   Biol Trace Elem Res 119 (3), 234-241 (2007)
   PUBMED   17916946
REFERENCE   7  (bases 1 to 2244)
  AUTHORS   Howard,M.T., Aggarwal,G., Anderson,C.B., Khatri,S., Flanigan,K.M.
            and Atkins,J.F.
  TITLE     Recoding elements located adjacent to a subset of eukaryal
            selenocysteine-specifying UGA codons
  JOURNAL   EMBO J 24 (8), 1596-1607 (2005)
   PUBMED   15791204
REFERENCE   8  (bases 1 to 2244)
  AUTHORS   Tamura,T., Yamamoto,S., Takahata,M., Sakaguchi,H., Tanaka,H.,
            Stadtman,T.C. and Inagaki,K.
  TITLE     Selenophosphate synthetase genes from lung adenocarcinoma cells:
            Sps1 for recycling L-selenocysteine and Sps2 for selenite
            assimilation
  JOURNAL   Proc Natl Acad Sci U S A 101 (46), 16162-16167 (2004)
   PUBMED   15534230
  REMARK    GeneRIF: the Sps1-encoded enzyme depends on a selenium salvage
            system that recycles l-selenocysteine, whereas the Sps2 enzyme can
            function with a selenite assimilation system
REFERENCE   9  (bases 1 to 2244)
  AUTHORS   Lescure,A., Gautheret,D., Carbon,P. and Krol,A.
  TITLE     Novel selenoproteins identified in silico and in vivo by using a
            conserved RNA structural motif
  JOURNAL   J Biol Chem 274 (53), 38147-38154 (1999)
   PUBMED   10608886
REFERENCE   10 (bases 1 to 2244)
  AUTHORS   Guimaraes,M.J., Peterson,D., Vicari,A., Cocks,B.G., Copeland,N.G.,
            Gilbert,D.J., Jenkins,N.A., Ferrick,D.A., Kastelein,R.A.,
            Bazan,J.F. and Zlotnik,A.
  TITLE     Identification of a novel selD homolog from eukaryotes, bacteria,
            and archaea: is there an autoregulatory mechanism in selenocysteine
            metabolism?
  JOURNAL   Proc Natl Acad Sci U S A 93 (26), 15086-15091 (1996)
   PUBMED   8986768
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA550938.1 and BC002381.2.
            
            On May 17, 2019 this sequence version replaced NM_012248.3.
            
            Summary: This gene encodes an enzyme that catalyzes the production
            of monoselenophosphate (MSP) from selenide and ATP. MSP is the
            selenium donor required for synthesis of selenocysteine (Sec),
            which is co-translationally incorporated into selenoproteins at
            in-frame UGA codons that normally signal translation termination.
            The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop
            structure, the Sec insertion sequence (SECIS) element, which is
            necessary for the recognition of UGA as a Sec codon rather than as
            a stop signal. This protein is itself a selenoprotein containing a
            Sec residue at its active site, suggesting the existence of an
            autoregulatory mechanism. It is preferentially expressed in tissues
            implicated in the synthesis of selenoproteins and in sites of blood
            cell development. A pseudogene for this locus has been identified
            on chromosome 5. [provided by RefSeq, May 2017].
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.655944.1,
                                        SRR3476690.970298.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000478753.5/
                                               ENSP00000418669.3
            protein contains selenocysteine :: PMID: 8986768
            RefSeq Select criteria          :: based on single protein-coding
                                               transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DA550938.1         102-116
            16-2244             BC002381.2         1-2229
FEATURES             Location/Qualifiers
     source          1..2244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2244
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /note="selenophosphate synthetase 2"
                     /db_xref="GeneID:22928"
                     /db_xref="HGNC:HGNC:19686"
                     /db_xref="MIM:606218"
     exon            1..2244
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1494
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /EC_number="2.7.9.3"
                     /note="UGA stop codon recoded as selenocysteine; selenium
                     donor protein 2; selenoprotein SEPHS2; selenophosphate
                     synthase 2"
                     /codon_start=1
                     /transl_except=(pos:325..327,aa:Sec)
                     /product="selenide, water dikinase 2"
                     /protein_id="NP_036380.2"
                     /db_xref="CCDS:CCDS42150.1"
                     /db_xref="GeneID:22928"
                     /db_xref="HGNC:HGNC:19686"
                     /db_xref="MIM:606218"
                     /translation="MAEASATGACGEAMAAAEGSSGPAGLTLGRSFSNYRPFEPQALG
                     LSPSWRLTGFSGMKGUGCKVPQEALLKLLAGLTRPDVRPPLGRGLVGGQEEASQEAGL
                     PAGAGPSPTFPALGIGMDSCVIPLRHGGLSLVQTTDFFYPLVEDPYMMGRIACANVLS
                     DLYAMGITECDNMLMLLSVSQSMSEEEREKVTPLMVKGFRDAAEEGGTAVTGGQTVVN
                     PWIIIGGVATVVCQPNEFIMPDSAVVGDVLVLTKPLGTQVAVNAHQWLDNPERWNKVK
                     MVVSREEVELAYQEAMFNMATLNRTAAGLMHTFNAHAATDITGFGILGHSQNLAKQQR
                     NEVSFVIHNLPIIAKMAAVSKASGRFGLLQGTSAETSGGLLICLPREQAARFCSEIKS
                     SKYGEGHQAWIVGIVEKGNRTARIIDKPRVIEVLPRGATAAVLAPDSSNASSEPSS"
     regulatory      2058..2134
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      2223..2228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /note="hexamer: AAGAAA"
     polyA_site      2244
                     /gene="SEPHS2"
                     /gene_synonym="SPS2"
                     /note="major polyA site"
ORIGIN      
        1 aggaagattg tgcatgccgt gggtctgacg gcttgagtag cgctagggag aatccctgca
       61 ggtaatattt gacttttgct tcatattaat ctgagtggaa aataaaaggg ccctcttctc
      121 ctctcgcttc cctgccgggc aggcgccatg gcggaagcct cggcgacggg cgcctgcgga
      181 gaggcgatgg cagcggcgga aggctcctcg ggcccggcgg gcttgactct gggccggagc
      241 ttctcgaact accggccctt cgagccccag gcgttgggcc tcagcccgag ctggcggctg
      301 acgggcttct ccggcatgaa gggctgaggc tgcaaggtcc cgcaggaggc gctgctcaaa
      361 ctcctggcgg gactgacgcg gccggacgtg cggcccccgc tgggccgggg cctggtgggt
      421 ggccaggaag aggcgtccca ggaagccggc ctgccggcag gagcgggccc cagccccacc
      481 tttccagccc tgggcatcgg gatggactcc tgcgtcatcc ccctgaggca cgggggcctg
      541 tcactggtgc agaccacgga cttcttttac cccttggtag aagatcccta catgatgggg
      601 cgcatagctt gtgccaacgt gctgagtgac ctctacgcca tggggattac tgagtgtgac
      661 aacatgttga tgttactcag cgtcagccag agtatgagtg aggaggaacg cgaaaaggta
      721 acgccactca tggtcaaagg ctttcgggat gcggctgagg aaggagggac ggcagtgacc
      781 ggtgggcaaa cggtggtcaa cccttggatt ataatcggtg gagttgccac tgtagtatgc
      841 caaccaaatg agttcataat gccggacagc gccgtcgttg gggacgtgct ggtgttaacc
      901 aaaccgttag gaacccaggt tgctgtcaat gcccaccaat ggctggataa tcctgaaaga
      961 tggaataaag taaagatggt ggtctccaga gaagaggtgg agctggccta tcaggaagcc
     1021 atgttcaata tggctaccct caacagaact gctgcaggtt taatgcacac atttaatgcc
     1081 catgcggcca cagatatcac aggctttggc attctaggac actcccagaa ccttgcaaaa
     1141 caacaaagaa atgaagtgtc ctttgttatt cataatctgc caataattgc caagatggct
     1201 gccgtcagca aggccagtgg acggtttggg cttcttcaag gaacctcagc tgaaacctct
     1261 gggggattac tgatttgtct gccaagagaa caggcggctc gcttttgttc tgaaatcaaa
     1321 tcctccaagt acggagaggg tcaccaagcg tggatcgttg gcattgtgga aaagggaaac
     1381 cgaacggccc ggatcattga caagccgcga gttattgaag tcctgcctcg tggggccaca
     1441 gctgctgttc ttgctcctga cagttcaaat gcctcctctg agcctagctc gtgagatgaa
     1501 agaacagaag ttgtttggac cttagagcca ttgtccacaa tcacggatgg ttctcaagag
     1561 ttgattgtaa gaaatttcca aagaaggctg cctgcatagt ggttccggct gccctttcta
     1621 ggtgattgga atcagcccat ctaaagcagt ctttatatgc attccgaggc cagagtaaca
     1681 ttttgaactt tggggggata tttgttcatc acttgggtag aagaggagca aaaatacctc
     1741 tgttttctct tgccaaagta agatgaagct attccaggtt gagggatttt tctttgcacg
     1801 gggttgatta atttctgcac agggagtgag attattaaag taacacacac acaaagtaaa
     1861 ttgcaaaatg aaaaaaatta gaagcaaatg agttttggac caatattgtt gataaatcta
     1921 aattgttaag agagatctta taatgcaaca tcaaattctt tattcaattt tactgaagta
     1981 ctggctcttt cctgctctgg acaagaattg agcaacttgt ctgatgactg ggaaaggagg
     2041 acctgcaacc atctgacttg gtctctgtta atgacgtctc tccctctaaa ccccattaag
     2101 gactgggaga ggcagagcaa gcctcagagc ccaggcctca gtggtcatta agatgttaag
     2161 tcttttgcgg cagattcctg gtgatttgat caataaagag taatttcttg ctaaataaat
     2221 aaaagaaacc ttgttgaaaa acta
//
