LOCUS       NM_001195604            3052 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript
            variant 3, mRNA.
ACCESSION   NM_001195604 XM_005252425
VERSION     NM_001195604.2
KEYWORDS    RefSeq.
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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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 3052)
  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, GU954547.1,
            AK301568.1, AL138764.21 and BC064610.1.
            
            On May 31, 2019 this sequence version replaced NM_001195604.1.
            
            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 (3) lacks an exon in the coding
            region, compared to variant 1. Isoform 3 (also called Delta E8) is
            shorter, compared to 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 :: GU954547.1, ERR3218372.499868.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267762 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                CT000832.1         6-18
            14-842              GU954547.1         1-829
            843-1123            AK301568.1         314-594
            1124-3025           AL138764.21        146780-148681       c
            3026-3042           BC064610.1         735-751
            3043-3052           AL138764.21        146753-146762       c
FEATURES             Location/Qualifiers
     source          1..3052
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3052
                     /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..1338
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /EC_number="2.7.9.3"
                     /note="isoform 3 is encoded by transcript variant 3;
                     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 3"
                     /protein_id="NP_001182533.1"
                     /db_xref="CCDS:CCDS55703.1"
                     /db_xref="GeneID:22929"
                     /db_xref="HGNC:HGNC:19685"
                     /db_xref="MIM:600902"
                     /translation="MSTRESFNPESYELDKSFRLTRFTELKGTGCKVPQDVLQKLLES
                     LQENHFQEDEQFLGAVMPRLGIGMDTCVIPLRHGGLSLVQTTDYIYPIVDDPYMMGRI
                     ACANVLSDLYAMGVTECDNMLMLLGVSNKMTDRERDKVMPLIIQGFKDAAEEAGTSVT
                     GGQTVLNPWIVLGGVATTVCQPNEFIMPDNAVPGDVLVLTKPLGTQVAVAVHQWLDIP
                     EKWNKIKLVVTQEDVELAYQEAMMNMARLNRTGGLLICLPREQAARFCAEIKSPKYGE
                     GHQAWIIGIVEKGNRTARIIDKPRIIEVAPQVATQNVNPTPGATS"
     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..3052
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1400..1405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="hexamer: ATTAAA"
     polyA_site      1423
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="major polyA site"
     regulatory      3019..3024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPHS1"
                     /gene_synonym="SELD; SPS; SPS1"
                     /note="hexamer: AATAAA"
     polyA_site      3052
                     /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 caggcggcct tctgatctgt
     1141 ttaccacgtg agcaagcagc tcggttctgt gcagagataa agtcccccaa atatggtgaa
     1201 ggccaccaag catggattat tgggattgta gagaagggca accgcacagc cagaatcata
     1261 gacaaacccc ggatcatcga ggtcgcacca caagtggcca ctcaaaatgt gaatcccaca
     1321 cccggggcca cctcttaatc tagacagaaa tagctgtttg gttttgtttt taaatagatc
     1381 tatttccctt atcacttcaa ttaaagacta taaacaacaa aaatctcatt gtgtctacac
     1441 atcggggtga ccttaggtcg gtttgtaagt ggatacaatt aataaaataa aatccattgc
     1501 ctttttttcc tgttacatta actgaagatg cacctaatct tgaggcagct tctgagttga
     1561 gaattatatt gttatccaat actgttgatt cattttgaat ctttagacac ttatctcttg
     1621 ccgcataggc tttttaaagg tgctttcaca tagcacaggc attacccgta gtcgtgtcaa
     1681 atagcagttg gtgtcttcat tttatgtata tttatcatat aagtctgatt ttttttttta
     1741 agcgtcttga atggttttct ggagagacag cattggtaag tggcacatga cggtatccca
     1801 gtcataagag ggttgcatga ttcctttgag tgtttgattt gaaaagccta gtcttgtctc
     1861 tcaagagcat ctcggaccca gaacattctc cagtagtgca ttcagttcaa cacagcaagt
     1921 gcttcattgc atggaaaaca ctttgaagac aaaaaagaaa tcttatttct ttttttgtag
     1981 ccttcctgat atttacagta ataccattaa ctgttttatc gatagcaaaa aaggatactt
     2041 tttgcaatgt tattagatgt tctatagtgc tacaaggaat tgccttccga atggaggttc
     2101 atgtataata ctcatttaca attcaatata taattacaca aataattttt aaatataatc
     2161 aatagtaaag actgttctgt ggatggtagt gtttaataca ttttctattt tgtacagtga
     2221 tttcaggcct tttgttttct taaaatcagc agctgtttgg cctaattctt agcattattt
     2281 tgtcctttgc gccagtactt ttttgtgcac gctttttgtg atctgtgtta aaaacctgca
     2341 ttgccaacat tgcagctcga acttaaactt gttattcaaa taaatattta attttttaaa
     2401 ttgctcttgt ataatcagat gcccctttta gtattatttt agaagcgttg ggagggtttt
     2461 gcctaaagta caatttatcg ggaaaaacta gattttagtt ttataaaact tttaagtctt
     2521 tcatgggacc tatattttct tgaattaaat tttgtagttc tagaataaat aggcaatcta
     2581 aaaaggtgtt ctctgtgtta tgtaaagtgg aggcttcctt atattttaac ctactaagca
     2641 atgaggaggg attcctgtca ttaagcacaa gggcgctgga tcctcaagtg cccatcttcg
     2701 tgagagaaaa agcagcacat cctgcccatt tctggtgctt tctgctcaca ggcaccaaag
     2761 ctgcacatgt aaactgactt cttgccaaag gaaatgaccc ctgggaagtt caagctcctg
     2821 gaagaggctt taactcggac gcgccctcct ccaggaacca gtgggcaggg cagccttcat
     2881 gcatgtgtaa ctggacctcc agccataagc atggtgtgca gtatggaaga gcctgctacg
     2941 gaactgaaag tgattggaca ttttatagga attgatagag atgttggtcc tcaaaagcta
     3001 caaaccagtg gtctgcaaaa taaagtgtgt tggaaacctc tagtgagata aa
//
