LOCUS       NM_012247               3265 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript
            variant 1, mRNA.
ACCESSION   NM_012247 XM_005252424
VERSION     NM_012247.5
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 3265)
  AUTHORS   Mullegama,S.V., Kiernan,K.A., Torti,E., Pavlovsky,E., Tilton,N.,
            Sekula,A., Gao,H., Alaimo,J.T., Engleman,K., Rush,E.T., Blocker,K.,
            Dipple,K.M., Fettig,V.M., Hare,H., Glass,I., Grange,D.K.,
            Griffin,M., Phornphutkul,C., Massingham,L., Mehta,L., Miller,D.E.,
            Thies,J., Merritt,J.L. 2nd, Muller,E. 2nd, Osmond,M., Sawyer,S.L.,
            Slaugh,R., Hickey,R.E., Wolf,B., Choudhary,S., Simonovic,M.,
            Zhang,Y., Palculict,T.B., Telegrafi,A., Carere,D.A.,
            Wentzensen,I.M., Morrow,M.M., Monaghan,K.G., Yang,J. and Juusola,J.
  CONSRTM   Care4Rare Canada Consortium; Undiagnosed Diseases Network
  TITLE     De novo missense variants in exon 9 of SEPHS1 cause a
            neurodevelopmental condition with developmental delay, poor growth,
            hypotonia, and dysmorphic features
  JOURNAL   Am J Hum Genet 111 (4), 778-790 (2024)
   PUBMED   38531365
  REMARK    GeneRIF: De novo missense variants in exon 9 of SEPHS1 cause a
            neurodevelopmental condition with developmental delay, poor growth,
            hypotonia, and dysmorphic features.
            Erratum:[Am J Hum Genet. 2024 Jun 6;111(6):1240. doi:
            10.1016/j.ajhg.2024.05.004.. PMID: 38749428]
REFERENCE   2  (bases 1 to 3265)
  AUTHORS   Kang,D., Lee,J., Jung,J., Carlson,B.A., Chang,M.J., Chang,C.B.,
            Kang,S.B., Lee,B.C., Gladyshev,V.N., Hatfield,D.L., Lee,B.J. and
            Kim,J.H.
  TITLE     Selenophosphate synthetase 1 deficiency exacerbates osteoarthritis
            by dysregulating redox homeostasis
  JOURNAL   Nat Commun 13 (1), 779 (2022)
   PUBMED   35140209
  REMARK    GeneRIF: Selenophosphate synthetase 1 deficiency exacerbates
            osteoarthritis by dysregulating redox homeostasis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3265)
  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   4  (bases 1 to 3265)
  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 3265)
  AUTHORS   Lee,M.O. and Cho,Y.S.
  TITLE     The role of selenium-mediated redox signaling by selenophosphate
            synthetase 1 (SEPHS1) in hESCs
  JOURNAL   Biochem Biophys Res Commun 520 (2), 406-412 (2019)
   PUBMED   31607477
  REMARK    GeneRIF: SEPHS1 expression is high in undifferentiated embryonic
            stem cells.SEPHS1 expression is required to obtain
            pluripotency.SEPHS1 plays a role in the embryonic stem cell
            survival via reactive oxygen species signaling and apoptosis.
REFERENCE   6  (bases 1 to 3265)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3265)
  AUTHORS   Saiki,R., Nagata,A., Kainou,T., Matsuda,H. and Kawamukai,M.
  TITLE     Characterization of solanesyl and decaprenyl diphosphate synthases
            in mice and humans
  JOURNAL   FEBS J 272 (21), 5606-5622 (2005)
   PUBMED   16262699
REFERENCE   8  (bases 1 to 3265)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   9  (bases 1 to 3265)
  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   10 (bases 1 to 3265)
  AUTHORS   Low,S.C., Harney,J.W. and Berry,M.J.
  TITLE     Cloning and functional characterization of human selenophosphate
            synthetase, an essential component of selenoprotein synthesis
  JOURNAL   J Biol Chem 270 (37), 21659-21664 (1995)
   PUBMED   7665581
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CT000832.1, GU954545.1,
            AK301568.1, AL138764.21 and BC064610.1.
            
            On Nov 22, 2018 this sequence version replaced NM_012247.4.
            
            Summary: This gene encodes an enzyme that synthesizes
            selenophosphate from selenide and ATP. Selenophosphate is the
            selenium donor used to synthesize selenocysteine, which is
            co-translationally incorporated into selenoproteins at in-frame UGA
            codons. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: GU954545.1, BC063816.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327347.10/ ENSP00000367893.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                CT000832.1         6-18
            14-842              GU954545.1         1-829
            843-1992            AK301568.1         314-1463
            1993-3238           AL138764.21        146780-148025       c
            3239-3255           BC064610.1         735-751
            3256-3265           AL138764.21        146753-146762       c
FEATURES             Location/Qualifiers
     source          1..3265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3265
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="selenophosphate synthetase 1"
                     /db_xref="GeneID:22929"
                     /db_xref="HGNC:HGNC:19685"
                     /db_xref="MIM:600902"
     exon            1..294
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..565
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             373..1551
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /EC_number="2.7.9.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     selenide, water dikinase 1; selenophosphate synthetase 1
                     major; selenophosphate synthetase 1 delta E2;
                     selenophosphate synthetase 1 delta E8; selenophosphate
                     synthetase 1 +E9; selenophosphate synthetase 1 +E9a;
                     selenium donor protein 1; selenophosphate synthase 1"
                     /codon_start=1
                     /product="selenide, water dikinase 1 isoform 1"
                     /protein_id="NP_036379.2"
                     /db_xref="CCDS:CCDS7098.1"
                     /db_xref="GeneID:22929"
                     /db_xref="HGNC:HGNC:19685"
                     /db_xref="MIM:600902"
                     /translation="MSTRESFNPESYELDKSFRLTRFTELKGTGCKVPQDVLQKLLES
                     LQENHFQEDEQFLGAVMPRLGIGMDTCVIPLRHGGLSLVQTTDYIYPIVDDPYMMGRI
                     ACANVLSDLYAMGVTECDNMLMLLGVSNKMTDRERDKVMPLIIQGFKDAAEEAGTSVT
                     GGQTVLNPWIVLGGVATTVCQPNEFIMPDNAVPGDVLVLTKPLGTQVAVAVHQWLDIP
                     EKWNKIKLVVTQEDVELAYQEAMMNMARLNRTAAGLMHTFNAHAATDITGFGILGHAQ
                     NLAKQQRNEVSFVIHNLPVLAKMAAVSKACGNMFGLMHGTCPETSGGLLICLPREQAA
                     RFCAEIKSPKYGEGHQAWIIGIVEKGNRTARIIDKPRIIEVAPQVATQNVNPTPGATS
                     "
     exon            566..669
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            670..777
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            778..932
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1023
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1123
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1336
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..3265
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="hexamer: ATTAAA"
     polyA_site      1636
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="major polyA site"
     regulatory      3232..3237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="hexamer: AATAAA"
     polyA_site      3265
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
ORIGIN      
        1 gcacgccgcc acccagcagc cagggccgcc tcttaaaggg aggtggccgg ccttaaagga
       61 cccccgcgcg cccagccggc gggagcgcgg cggcccggct cccgcagggc cgcgccgagg
      121 caggcgagcc cccgcggcgc ccaggcgcgg gcccgggccc ccgccgccgc cgccgccgcc
      181 gggcgcggca tttttattca ggcgacgctt aagggagccc ggccgcgccc ggtgcattgt
      241 gggagcggcc cgcggcccgt tttcgggagg aggcggaggg cgcaaagcga gccggtggat
      301 ccataaagaa cccagccaac ccgcagaggg aggggagggg ctgagctgtg aggagagcgg
      361 ggcccaagaa ccatgtctac gcgggagtcc tttaacccgg aaagttacga attggacaaa
      421 agcttccggc taaccagatt cactgaactg aagggcacag gctgcaaagt gccccaagat
      481 gtcctgcaaa aattgctgga atctttacag gagaaccact tccaagaaga tgagcagttt
      541 ctgggagccg ttatgccaag gcttggcatt ggaatggata cttgtgtcat tcctttgagg
      601 cacggtgggc tttccttggt tcaaaccaca gattacattt acccgatcgt agacgaccct
      661 tacatgatgg gcaggatagc gtgtgccaat gtcctcagtg acctctatgc aatgggggtc
      721 acggaatgtg acaatatgct gatgctcctt ggagtcagta ataaaatgac cgacagggaa
      781 agggataaag tgatgcctct gattatccaa ggttttaaag acgcagctga ggaagcagga
      841 acatctgtaa caggcggcca aacagtacta aacccctgga ttgtcctggg aggagtggct
      901 accactgtct gccaacccaa tgaatttatc atgccagaca atgcagtgcc aggggacgtg
      961 ctggtgctga caaaacccct ggggacacag gtggcagtgg ctgtgcacca gtggctggat
     1021 atccctgaga aatggaataa gattaaacta gtggtcaccc aagaagatgt agagctggcc
     1081 taccaggagg cgatgatgaa catggcgagg ctcaacagga cagctgcagg actcatgcac
     1141 acgttcaatg cccacgccgc cactgacatc acgggcttcg ggattttggg ccatgcgcag
     1201 aacctggcca agcagcagag gaacgaggtg tcgtttgtaa ttcacaacct cccggtgctg
     1261 gccaagatgg ctgcggtgag caaggcctgc ggaaacatgt tcggcctcat gcacgggacc
     1321 tgcccggaga cttcaggcgg ccttctgatc tgtttaccac gtgagcaagc agctcggttc
     1381 tgtgcagaga taaagtcccc caaatatggt gaaggccacc aagcatggat tattgggatt
     1441 gtagagaagg gcaaccgcac agccagaatc atagacaaac cccggatcat cgaggtcgca
     1501 ccacaagtgg ccactcaaaa tgtgaatccc acacccgggg ccacctctta atctagacag
     1561 aaatagctgt ttggttttgt ttttaaatag atctatttcc cttatcactt caattaaaga
     1621 ctataaacaa caaaaatctc attgtgtcta cacatcgggg tgaccttagg tcggtttgta
     1681 agtggataca attaataaaa taaaatccat tgcctttttt tcctgttaca ttaactgaag
     1741 atgcacctaa tcttgaggca gcttctgagt tgagaattat attgttatcc aatactgttg
     1801 attcattttg aatctttaga cacttatctc ttgccgcata ggctttttaa aggtgctttc
     1861 acatagcaca ggcattaccc gtagtcgtgt caaatagcag ttggtgtctt cattttatgt
     1921 atatttatca tataagtctg attttttttt ttaagcgtct tgaatggttt tctggagaga
     1981 cagcattggt aagtggcaca tgacggtatc ccagtcataa gagggttgca tgattccttt
     2041 gagtgtttga tttgaaaagc ctagtcttgt ctctcaagag catctcggac ccagaacatt
     2101 ctccagtagt gcattcagtt caacacagca agtgcttcat tgcatggaaa acactttgaa
     2161 gacaaaaaag aaatcttatt tctttttttg tagccttcct gatatttaca gtaataccat
     2221 taactgtttt atcgatagca aaaaaggata ctttttgcaa tgttattaga tgttctatag
     2281 tgctacaagg aattgccttc cgaatggagg ttcatgtata atactcattt acaattcaat
     2341 atataattac acaaataatt tttaaatata atcaatagta aagactgttc tgtggatggt
     2401 agtgtttaat acattttcta ttttgtacag tgatttcagg ccttttgttt tcttaaaatc
     2461 agcagctgtt tggcctaatt cttagcatta ttttgtcctt tgcgccagta cttttttgtg
     2521 cacgcttttt gtgatctgtg ttaaaaacct gcattgccaa cattgcagct cgaacttaaa
     2581 cttgttattc aaataaatat ttaatttttt aaattgctct tgtataatca gatgcccctt
     2641 ttagtattat tttagaagcg ttgggagggt tttgcctaaa gtacaattta tcgggaaaaa
     2701 ctagatttta gttttataaa acttttaagt ctttcatggg acctatattt tcttgaatta
     2761 aattttgtag ttctagaata aataggcaat ctaaaaaggt gttctctgtg ttatgtaaag
     2821 tggaggcttc cttatatttt aacctactaa gcaatgagga gggattcctg tcattaagca
     2881 caagggcgct ggatcctcaa gtgcccatct tcgtgagaga aaaagcagca catcctgccc
     2941 atttctggtg ctttctgctc acaggcacca aagctgcaca tgtaaactga cttcttgcca
     3001 aaggaaatga cccctgggaa gttcaagctc ctggaagagg ctttaactcg gacgcgccct
     3061 cctccaggaa ccagtgggca gggcagcctt catgcatgtg taactggacc tccagccata
     3121 agcatggtgt gcagtatgga agagcctgct acggaactga aagtgattgg acattttata
     3181 ggaattgata gagatgttgg tcctcaaaag ctacaaacca gtggtctgca aaataaagtg
     3241 tgttggaaac ctctagtgag ataaa
//
