LOCUS       NM_003036               6083 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens SKI proto-oncogene (SKI), mRNA.
ACCESSION   NM_003036
VERSION     NM_003036.4
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 6083)
  AUTHORS   Fusco,C., Nardella,G., Morlino,S., Micale,L., Tragni,V.,
            Agolini,E., Novelli,A., Massuras,S., Giambra,V., Pierri,C.L. and
            Castori,M.
  TITLE     Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational
            hot-spots of SKI alter molecular dynamics and may affect cell cycle
  JOURNAL   J Hum Genet 69 (1), 53-58 (2024)
   PUBMED   37697026
  REMARK    GeneRIF: Nucleotide substitutions at the p.Gly117 and p.Thr180
            mutational hot-spots of SKI alter molecular dynamics and may affect
            cell cycle.
REFERENCE   2  (bases 1 to 6083)
  AUTHORS   Pelgrims,E., Lynch,S.A., Hannes,L., Hoffer,M.J.V., Melotte,C., Van
            Haeringen,A., Swillen,A. and Breckpot,J.
  TITLE     Triplications of chromosome 1p36.3, including the genes GABRD and
            SKI, are associated with a developmental disorder and a facial
            gestalt
  JOURNAL   Am J Med Genet A 191 (7), 1889-1899 (2023)
   PUBMED   37129290
  REMARK    GeneRIF: Triplications of chromosome 1p36.3, including the genes
            GABRD and SKI, are associated with a developmental disorder and a
            facial gestalt.
REFERENCE   3  (bases 1 to 6083)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   4  (bases 1 to 6083)
  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   5  (bases 1 to 6083)
  AUTHORS   Pearson-White,S.
  TITLE     SnoI, a novel alternatively spliced isoform of the ski
            protooncogene homolog, sno
  JOURNAL   Nucleic Acids Res 21 (19), 4632-4638 (1993)
   PUBMED   8233802
REFERENCE   6  (bases 1 to 6083)
  AUTHORS   Nagase,T., Nomura,N. and Ishii,S.
  TITLE     Complex formation between proteins encoded by the ski gene family
  JOURNAL   J Biol Chem 268 (18), 13710-13716 (1993)
   PUBMED   8514802
REFERENCE   7  (bases 1 to 6083)
  AUTHORS   Greally,M.T.
  TITLE     Shprintzen-Goldberg Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301454
REFERENCE   8  (bases 1 to 6083)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   9  (bases 1 to 6083)
  AUTHORS   Nomura,N., Sasamoto,S., Ishii,S., Date,T., Matsui,M. and
            Ishizaki,R.
  TITLE     Isolation of human cDNA clones of ski and the ski-related gene, sno
  JOURNAL   Nucleic Acids Res 17 (14), 5489-5500 (1989)
   PUBMED   2762147
REFERENCE   10 (bases 1 to 6083)
  AUTHORS   Chaganti,R.S., Balazs,I., Jhanwar,S.C., Murty,V.V., Koduru,P.R.,
            Grzeschik,K.H. and Stavnezer,E.
  TITLE     The cellular homologue of the transforming gene of SKV avian
            retrovirus maps to human chromosome region 1q22----q24
  JOURNAL   Cytogenet Cell Genet 43 (3-4), 181-186 (1986)
   PUBMED   3026737
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590822.37 and X15218.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003036.3.
            
            Summary: This gene encodes the nuclear protooncogene protein
            homolog of avian sarcoma viral (v-ski) oncogene. It functions as a
            repressor of TGF-beta signaling, and may play a role in neural tube
            development and muscle differentiation. [provided by RefSeq, Oct
            2009].
            
            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 :: X15218.1, SRR14038192.3809015.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378536.5/ ENSP00000367797.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-376               AL590822.37        85373-85748
            377-3445            X15218.1           1-3069
            3446-6083           AL590822.37        164630-167267
FEATURES             Location/Qualifiers
     source          1..6083
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33-p36.32"
     gene            1..6083
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /note="SKI proto-oncogene"
                     /db_xref="GeneID:6497"
                     /db_xref="HGNC:HGNC:10896"
                     /db_xref="MIM:164780"
     exon            1..1417
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     CDS             449..2635
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /note="ski oncoprotein; proto-oncogene c-Ski; v-ski avian
                     sarcoma viral oncogene homolog; Sloan-Kettering Institute
                     proto-oncogene"
                     /codon_start=1
                     /product="ski oncogene"
                     /protein_id="NP_003027.1"
                     /db_xref="CCDS:CCDS39.1"
                     /db_xref="GeneID:6497"
                     /db_xref="HGNC:HGNC:10896"
                     /db_xref="MIM:164780"
                     /translation="MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQ
                     EAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCE
                     TVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEI
                     LKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALGLELSERSV
                     RVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGF
                     DSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRP
                     KTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKE
                     LSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCT
                     QPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSS
                     SAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEV
                     VKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENE
                     KKMKEANESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADRE
                     QLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGSEGAAELEP"
     exon            1418..1543
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1659
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1922
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2215
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     exon            2216..2446
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     exon            2447..6083
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5964..5969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /note="hexamer: TATAAA"
     polyA_site      5989
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /note="major polyA site"
     regulatory      6064..6069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
                     /note="hexamer: AATAAA"
     polyA_site      6083
                     /gene="SKI"
                     /gene_synonym="SGS; SKV"
ORIGIN      
        1 gctcctcccg ggcccctcgg cctcggccgc cgcggcgatt cgcgcctcgc ggcgccggca
       61 cctgcccgcg cgccccccgc gagccccggg cccgcgagcg ttggcgttgg cgttggcggc
      121 gcgcgccggg gcatgccccg cgcctagagc ccggggggcg cgcgggggac gcgcgggggg
      181 cccgggcggc ggcgggcgcg gcgcggggcg cgtggatgtg gcgccgggcc cgggcggcgg
      241 cgggctccag cggcgggacc ccttcgcccc gcccgccttc cccttcgcgc ccccgggcga
      301 ggccgcggcc gtgatcggcc gtgagccggc ggcggggggc ggccggggtc ggggccgcgg
      361 gcgccgccgg ggcgcgcggg gcggcggcgg gggccggggg ggcccgggcg cgcgggagcg
      421 ggagcggccg ggggagccgg agcgcaccat ggaggcggcg gcaggcggcc gcggctgttt
      481 ccagccgcac ccggggctgc agaagacgct ggagcagttc cacctgagct ccatgagctc
      541 gctgggcggc ccggccgctt tctcggcgcg ctgggcgcag gaggcctaca agaaggagag
      601 cgccaaggag gcgggcgcgg ccgcggtgcc ggcgccggtg cccgcagcca ccgagccgcc
      661 gcccgtgctg cacctgcccg ccatccagcc gccgccgccc gtgctgcccg ggcccttctt
      721 catgccgtcc gaccgctcca ccgagcgctg cgagaccgta ctggaaggcg agaccatctc
      781 gtgcttcgtg gtgggaggcg agaagcgcct gtgtctgccg cagattctca actcggtgct
      841 gcgcgacttc tcgctgcagc agatcaacgc ggtgtgcgac gagctccaca tctactgctc
      901 gcgctgcacg gccgaccagc tggagatcct caaagtcatg ggcatcctgc ccttctcggc
      961 gccctcgtgc gggctcatca ccaagacgga cgccgagcgc ctgtgcaacg cgctgctcta
     1021 cggcggcgcc tacccgccgc cctgcaagaa ggagctggcc gccagcctgg cgctgggcct
     1081 ggagctcagc gagcgcagcg tccgcgtgta ccacgagtgc ttcggcaagt gtaaggggct
     1141 gctggtgccc gagctctaca gcagcccgag cgccgcctgc atccagtgcc tggactgccg
     1201 cctcatgtac ccgccgcaca agttcgtggt gcactcgcac aaggccctgg agaaccggac
     1261 ctgccactgg ggcttcgact cggccaactg gcgggcctac atcctgctga gccaggatta
     1321 cacgggcaag gaggagcagg cgcgcctcgg ccgctgcctg gacgacgtga aggagaaatt
     1381 cgactatggc aacaagtaca agcggcgggt gccccgggtc tcctctgagc ctccggcctc
     1441 cataagaccc aaaacagatg acacctcttc ccagtccccc gcgccttccg aaaaggacaa
     1501 gccgtccagc tggctgcgga ccttggccgg ctcttccaat aagagcctgg gctgtgttca
     1561 ccctcgccag cgcctctctg ctttccgacc ctggtccccc gcagtgtcag cgagtgagaa
     1621 agagctctcc ccacacctcc cggccctcat ccgagacagc ttctactcct acaagagctt
     1681 tgagacagcc gtggcgccca acgtggccct cgcaccgccg gcccagcaga aggttgtgag
     1741 cagccctccg tgtgccgccg ccgtctcccg ggcccccgag cctctcgcca cttgcaccca
     1801 gcctcggaag cggaagctga ctgtggacac cccaggagcc ccagagacgc tggcgcccgt
     1861 ggctgcccca gaggaggaca aggactcgga ggcggaggtg gaagttgaaa gcagggagga
     1921 attcacctcc tccttgtcct cgctctcttc cccgtccttt acctcatcca gctccgccaa
     1981 ggacctgggc tccccgggtg cgcgtgccct gccctcggcc gtccctgatg ctgcggcccc
     2041 tgccgacgcc cccagtgggc tggaggcgga gctggagcac ctgcggcagg cactggaggg
     2101 cggcctggac accaaggaag ccaaagagaa gttcctgcat gaggtggtca agatgcgcgt
     2161 gaagcaggag gagaagctca gcgcagccct gcaggccaag cgcagcctcc accaggagct
     2221 ggagttccta cgcgtggcca agaaggagaa gctgcgggag gccacggagg ccaagcgtaa
     2281 cctgcggaag gagatcgagc gtctccgcgc cgagaacgag aagaagatga aagaggccaa
     2341 cgagtcacgg ctgcgcctga agcgggagct ggagcaggcg cggcaggccc gggtgtgcga
     2401 caagggctgc gaggcgggcc gcctgcgcgc caagtactcg gcccagatcg aagacctgca
     2461 ggtgaagctg cagcacgcgg aggcggaccg ggagcagctg cgggccgacc tgctgcggga
     2521 gcgcgaggcc cgggagcacc tggagaaggt ggtgaaggag ctgcaggaac agctgtggcc
     2581 gcgggcccgc cccgaggctg cgggcagcga gggcgctgcg gagctggagc cgtagattcc
     2641 gtgcctgccg ccgcagcgcc gccgacaacg cgggtgcagg ggggcgcggc tgggcggtgc
     2701 agctccgccc ggctccgccc ctgcagccca cacagcacaa cgtcttaccg tgcctattac
     2761 caagcgagtg tttgtaacca tgtagttttg gaacccactg caaaattttc tactggccaa
     2821 gttcaagtga gtaagccgcg tcccccaact acagctggag acggggccag ctcggcggcc
     2881 tgctggtcct ctgcttgctg gaacattcta acatttacac ttttgttata agctatttaa
     2941 aaccagtaag gagacttgaa attcagaaaa tcaacacatt tttaaatgac taacttctaa
     3001 aagccccaac acatgacgcc atctgaagac ccgcaacgga gtgggggtgg cggccgcccc
     3061 accctcccca cccggggaag ccatcacagc tcatctgccc gcggctgcgt gaggacagca
     3121 ggggtttttc ttcagagtct attttttcag cgacaaggac ccaggtcttc ctgctgctgc
     3181 cagggagagc agggacagtg ccgcgtgcga gatgagctcg aacactgccc gccttactgc
     3241 cgcctacccc gcccgccacg ccgccgtcga tgccagcgct gtccccacgg gtaccaggaa
     3301 gtgcagagcc gcacaggagc tgccccggag ctgaggggac ggtcttcggc tcctctgcac
     3361 cccgtgattc tgcccacgct cctccaccac gaggcactga cctgcgtcgg gtggtgaccg
     3421 tggctggcgg tcacgccctc agcccctccg ggcacacgtg ccgcctgacc gggcgaccct
     3481 tttcagttcg gcaaacgtcg ctcccttcat tttgggactg aggctgcagc attggaacaa
     3541 aagagcatta tttcaatttt tctttctttt tttttgttcg ttcatttaaa cgtatattta
     3601 gaactgcact ttgtccacaa ccttcccttc tctttctatt ccccagtgaa ctgaggtttt
     3661 taccgattta tagagcagtc aaatccgaag tgctcgagtg cttagaaacc ccctctggtg
     3721 cttggttgaa caagggaatc acaagaaaac gaaaatgcaa aaactgaact tcgggggtcg
     3781 ttctgtgcct tccagcatct tgtacagcaa atcctgactc gtgtcttttt acccccaaga
     3841 tatctgtctt cagtagcgac tgaatctgcc actctcagaa taagttcctt gcatttattc
     3901 caaataatct cgtttactct cacctgttta tgcaaattgt ataaggtttc ttatgcccaa
     3961 gcttgaaaaa tgatttccca gtagacaaga ggcggctacc tatcctacag ttacggtatt
     4021 tatttacata agaagatctt acaggagttc tttgcttgaa tccgttctaa cacccgcggc
     4081 agctgcacgc gctcacagaa ggtggaggtt acttgcccag gtacagacga cctcggggca
     4141 gtgacgagca aagaccagag actgctgagc cctcgcatct gggtggcgga attgcctgcg
     4201 gggttttgcc cttggtttac tgaggggggt cttggttgct gctgaagccc cccacccctt
     4261 ctaaagtgca atgcaaaagg gacatcatgt atatgcagcg tttgtttgga attttctttg
     4321 cttttgtttt ctttgcggtt gttctgtgtg catggattcc acacctctgc cgtaggtaga
     4381 tccgtcagcg ggcattatta ccgtgtcttg taaagggtcg gttttgttat gcaacatgca
     4441 gaatgctgtt tttagccttg ttttaccaga gttgtttttt ttttcagtta tttcttcaag
     4501 ggaaactaaa tgatttagtt ggagcaaagc tttaagtgtg ttggcgtgct tctgtgtggc
     4561 tgtcctgtgt cgccaggtcg aagatcacag tgaggtagag gccctgcccc atccccaggg
     4621 ccgccaggct tgctccgttt gctttgagtt tttagacccc agagggagat gagcttttcc
     4681 aagctgtgtc tgggccagag cctctccttg cccttgctcc atcccgacgg tcaccgttgg
     4741 gtccacgcct ccaccgcccc atcttgcccc aaacggaaag cgctgtatct gcagtggcag
     4801 cccttcccca cttcggctct gggagggtcc agccagtgtc acctgggccc accctttcct
     4861 gcagctgcca ggcccgtgcg gtcagtggga cccggacgtg ggcaggcgag ctcgggaccc
     4921 tcccaggcag ttcccacagc tcttgcctcg gctcaccagg gtcacttcca ctgtcagggg
     4981 cctgaggggg cagctgtggc tgcagggctg ctctggactg aggggtccca ggccccgagg
     5041 ggtgcacgcc tggctcccct tggcacaggt gcgagtccgt ttcttttcag cagaaggggg
     5101 aagaggtgtc cgctgtgtgg gctgctgact cctctgtgtg tgaggccctt catctaagtg
     5161 attgtgtatt cagtttaatt ctcattatat ttctatactg aaagaagatt tttaacgaag
     5221 ggaaaaacaa cagcaataac attcatatct ctggagcagc taactcatac acgtaatgtc
     5281 tgcttttcgt acagaactag ccaatgtaaa aacagttcac ctgtaaatac tttttccttt
     5341 ttcaccgttg tattatacat gtatatgctg ggtccttttt cagaaactct tttcttacct
     5401 gagagttgtc ttgttttctg ggctgttttt aactgaggaa aaaaaaaatg ctttcctgcc
     5461 ggggggcagg ggagacggag aaacccatgt gcgtttccca tgtgaccccc tcctccctgt
     5521 gggtctgagc cccggccccc cccacctcct cctccctgtg ggtccgaacc ccggcccccc
     5581 caccccctcc tccctgtggg tccgaacccc ggccccccca ccccctcctc cctgtgggtc
     5641 cgatccccgg ccccccccac cccctcctcc ctgtgggtcc gaaccccggc ccccccccca
     5701 ccccctcctc cctgtgggtc cgaaccccgg cccccccacc cctccctcag cccaccaggg
     5761 tccagggaga tgttcgttct cgctttaagt caggagtcac aaatgacttt tttttttcaa
     5821 ttaaggaaaa agctccatct ctacctttaa catcacccag acccccgccc ctgcccgtgc
     5881 cccacgctgc tgctaacgac agtatgatgc ttactctgct actcggaaac tatttttatg
     5941 taattaatgt atgctttctt gtttataaat gcctgattta aaaagaaaag agcttggcat
     6001 atttatctat ttcgctgtgt acctgttagt ccttccccga ccccgaaaca gatgacattg
     6061 tacaataaag gactttgaga gga
//
