LOCUS       NM_002970               1049 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens spermidine/spermine N1-acetyltransferase 1 (SAT1),
            transcript variant 1, mRNA.
ACCESSION   NM_002970
VERSION     NM_002970.4
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 1049)
  AUTHORS   Zhao,G., Liang,J., Zhang,Y., Shan,G., Bian,Y., Gu,J., Zhan,C. and
            Ge,D.
  TITLE     MNT inhibits lung adenocarcinoma ferroptosis and chemosensitivity
            by suppressing SAT1
  JOURNAL   Commun Biol 7 (1), 680 (2024)
   PUBMED   38831092
  REMARK    GeneRIF: MNT inhibits lung adenocarcinoma ferroptosis and
            chemosensitivity by suppressing SAT1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1049)
  AUTHORS   Deng,L., Liao,L., Zhang,Y.L., Hu,S.Y., Yang,S.Y., Ma,X.Y.,
            Huang,M.Y., Zhang,F.L. and Li,D.Q.
  TITLE     MYC-driven U2SURP regulates alternative splicing of SAT1 to promote
            triple-negative breast cancer progression
  JOURNAL   Cancer Lett 560, 216124 (2023)
   PUBMED   36907504
  REMARK    GeneRIF: MYC-driven U2SURP regulates alternative splicing of SAT1
            to promote triple-negative breast cancer progression.
REFERENCE   3  (bases 1 to 1049)
  AUTHORS   Xu,L., Zhao,J., Sun,Q., Xu,X., Wang,L., Liu,T., Wu,Y., Zhu,J.,
            Geng,L., Deng,Y., Awgulewitsch,A., Kamen,D.L., Oates,J.C., Raj,P.,
            Wakeland,E.K., Scofield,R.H., Guthridge,J.M., James,J.A.,
            Hahn,B.H., McCurdy,D.K., Wang,F., Zhang,M., Tan,W., Gilkeson,G.S.
            and Tsao,B.P.
  TITLE     Loss-of-function variants in SAT1 cause X-linked childhood-onset
            systemic lupus erythematosus
  JOURNAL   Ann Rheum Dis 81 (12), 1712-1721 (2022)
   PUBMED   35977808
  REMARK    GeneRIF: Loss-of-function variants in SAT1 cause X-linked
            childhood-onset systemic lupus erythematosus.
REFERENCE   4  (bases 1 to 1049)
  AUTHORS   Sui,X., Hu,N., Zhang,Z., Wang,Y., Wang,P. and Xiu,G.
  TITLE     ASMTL-AS1 impedes the malignant progression of lung adenocarcinoma
            by regulating SAT1 to promote ferroptosis
  JOURNAL   Pathol Int 71 (11), 741-751 (2021)
   PUBMED   34658100
  REMARK    GeneRIF: ASMTL-AS1 impedes the malignant progression of lung
            adenocarcinoma by regulating SAT1 to promote ferroptosis.
REFERENCE   5  (bases 1 to 1049)
  AUTHORS   Perez-Leal,O., Abou-Gharbia,M., Gordon,J., Childers,W.E. and
            Merali,S.
  TITLE     A novel assay platform for the detection of translation modulators
            of spermidine/spermine acetyltransferase
  JOURNAL   Curr Pharm Des 20 (2), 245-252 (2014)
   PUBMED   23701549
REFERENCE   6  (bases 1 to 1049)
  AUTHORS   Ivanov,I.P., Atkins,J.F. and Michael,A.J.
  TITLE     A profusion of upstream open reading frame mechanisms in
            polyamine-responsive translational regulation
  JOURNAL   Nucleic Acids Res 38 (2), 353-359 (2010)
   PUBMED   19920120
  REMARK    Review article
REFERENCE   7  (bases 1 to 1049)
  AUTHORS   Xiao,L., Celano,P., Mank,A.R., Griffin,C., Jabs,E.W., Hawkins,A.L.
            and Casero,R.A. Jr.
  TITLE     Structure of the human spermidine/spermine N1-acetyltransferase
            gene (exon/intron gene organization and localization to Xp22.1)
  JOURNAL   Biochem Biophys Res Commun 187 (3), 1493-1502 (1992)
   PUBMED   1417826
REFERENCE   8  (bases 1 to 1049)
  AUTHORS   Xiao,L., Celano,P., Mank,A.R., Pegg,A.E. and Casero,R.A. Jr.
  TITLE     Characterization of a full-length cDNA which codes for the human
            spermidine/spermine N1-acetyltransferase
  JOURNAL   Biochem Biophys Res Commun 179 (1), 407-415 (1991)
   PUBMED   1652956
REFERENCE   9  (bases 1 to 1049)
  AUTHORS   Libby,P.R., Ganis,B., Bergeron,R.J. and Porter,C.W.
  TITLE     Characterization of human spermidine/spermine N1-acetyltransferase
            purified from cultured melanoma cells
  JOURNAL   Arch Biochem Biophys 284 (2), 238-244 (1991)
   PUBMED   1989509
REFERENCE   10 (bases 1 to 1049)
  AUTHORS   Casero,R.A. Jr., Celano,P., Ervin,S.J., Applegren,N.B., Wiest,L.
            and Pegg,A.E.
  TITLE     Isolation and characterization of a cDNA clone that codes for human
            spermidine/spermine N1-acetyltransferase
  JOURNAL   J Biol Chem 266 (2), 810-814 (1991)
   PUBMED   1985966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC131011.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 27, 2020 this sequence version replaced NM_002970.3.
            
            Summary: The protein encoded by this gene belongs to the
            acetyltransferase family, and is a rate-limiting enzyme in the
            catabolic pathway of polyamine metabolism. It catalyzes the
            acetylation of spermidine and spermine, and is involved in the
            regulation of the intracellular concentration of polyamines and
            their transport out of cells. Defects in this gene are associated
            with keratosis follicularis spinulosa decalvans (KFSD).
            Alternatively spliced transcripts have been found for this
            gene.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the protein coding
            transcript.
            
            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 :: BC008424.1, M77693.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379270.5/ ENSP00000368572.4
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 19920120
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-245               AC131011.5         100511-100755       c
            246-297             AC131011.5         100219-100270       c
            298-381             AC131011.5         100045-100128       c
            382-483             AC131011.5         98499-98600         c
            484-524             AC131011.5         98368-98408         c
            525-1049            AC131011.5         97718-98242         c
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..1049
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /note="spermidine/spermine N1-acetyltransferase 1"
                     /db_xref="GeneID:6303"
                     /db_xref="HGNC:HGNC:10540"
                     /db_xref="MIM:313020"
     exon            1..245
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      63..77
                     /regulatory_class="uORF"
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19920120]"
                     /note="this uORF is predicted to encode a 4 aa peptide
                     (PMID:19920120, 23701549)"
     regulatory      106..195
                     /regulatory_class="uORF"
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19920120]"
                     /note="this uORF is predicted to encode a 29 aa peptide
                     (PMID:19920120, 23701549)"
     CDS             180..695
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /EC_number="2.3.1.57"
                     /note="diamine N-acetyltransferase 1; spermidine/spermine
                     N1-acetyltransferase alpha; putrescine acetyltransferase;
                     polyamine N-acetyltransferase 1; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="diamine acetyltransferase 1"
                     /protein_id="NP_002961.1"
                     /db_xref="CCDS:CCDS14207.1"
                     /db_xref="GeneID:6303"
                     /db_xref="HGNC:HGNC:10540"
                     /db_xref="MIM:313020"
                     /translation="MAKFVIRPATAADCSDILRLIKELAKYEYMEEQVILTEKDLLED
                     GFGEHPFYHCLVAEVPKEHWTPEGHSIVGFAMYYFTYDPWIGKLLYLEDFFVMSDYRG
                     FGIGSEILKNLSQVAMRCRCSSMHFLVAEWNEPSINFYKRRGASDLSSEEGWRLFKID
                     KEYLLKMATEE"
     exon            246..297
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            298..381
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            382..483
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            484..524
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            525..1049
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1028..1033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /note="hexamer: AATAAA"
     polyA_site      1049
                     /gene="SAT1"
                     /gene_synonym="DC21; KFSD; KFSDX; SAT; SSAT; SSAT-1"
                     /note="major polyA site"
ORIGIN      
        1 gcgcagctct tagtcgcggg ccgactggtg tttatccgtc actcgccgag gttccttggg
       61 tcatggtgcc agcctgactg agaagaggac gctcccggga gacgaatgag gaaccacctc
      121 ctcctactgt tcaagtacag gggcctggtc cgcaaaggga agaaaagcaa aagacgaaaa
      181 tggctaaatt cgtgatccgc ccagccactg ccgccgactg cagtgacata ctgcggctga
      241 tcaaggagct ggctaaatat gaatacatgg aagaacaagt aatcttaact gaaaaagatc
      301 tgctagaaga tggttttgga gagcacccct tttaccactg cctggttgca gaagtgccga
      361 aagagcactg gactccggaa ggacacagca ttgttggttt tgccatgtac tattttacct
      421 atgacccgtg gattggcaag ttattgtatc ttgaggactt cttcgtgatg agtgattata
      481 gaggctttgg cataggatca gaaattctga agaatctaag ccaggttgca atgaggtgtc
      541 gctgcagcag catgcacttc ttggtagcag aatggaatga accatccatc aacttctata
      601 aaagaagagg tgcttctgat ctgtccagtg aagagggttg gagactgttc aagatcgaca
      661 aggagtactt gctaaaaatg gcaacagagg agtgaggagt gctgctgtag atgacaacct
      721 ccattctatt ttagaataaa ttcccaactt ctcttgcttt ctatgctgtt tgtagtgaaa
      781 taatagaatg agcacccatt ccaaagcttt attaccagtg gcgttgttgc atgtttgaaa
      841 tgaggtctgt ttaaagtggc aatctcagat gcagtttgga gagtcagatc tttctccttg
      901 aatatctttc gataaacaac aaggtggtgt gatcttaata tatttgaaaa aaacttcatt
      961 ctcgtgagtc atttaaatgt gtacaatgta cacactggta cttagagttt ctgtttgatt
     1021 cttttttaat aaactactct ttgatttaa
//
