LOCUS       NM_001365915            3738 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens SKI family transcriptional corepressor 1 (SKOR1),
            mRNA.
ACCESSION   NM_001365915 XM_017022173
VERSION     NM_001365915.1
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 3738)
  AUTHORS   Morales-Prieto,N., Bevans,R., O'Mahony,A., Barron,A., Giles
            Doran,C., McCarthy,E., Concannon,R.M., Goulding,S.R.,
            McCarthy,C.M., Collins,L.M., Sullivan,A.M. and O'Keeffe,G.W.
  TITLE     Human alpha-synuclein overexpression upregulates SKOR1 in a rat
            model of simulated nigrostriatal ageing
  JOURNAL   Aging Cell 23 (6), e14155 (2024)
   PUBMED   38529808
  REMARK    GeneRIF: Human alpha-synuclein overexpression upregulates SKOR1 in
            a rat model of simulated nigrostriatal ageing.
REFERENCE   2  (bases 1 to 3738)
  AUTHORS   Sarayloo,F., Spiegelman,D., Rochefort,D., Akcimen,F., De Barros
            Oliveira,R., Dion,P.A. and Rouleau,G.A.
  TITLE     SKOR1 has a transcriptional regulatory role on genes involved in
            pathways related to restless legs syndrome
  JOURNAL   Eur J Hum Genet 28 (11), 1520-1528 (2020)
   PUBMED   32572201
  REMARK    GeneRIF: SKOR1 has a transcriptional regulatory role on genes
            involved in pathways related to restless legs syndrome.
REFERENCE   3  (bases 1 to 3738)
  AUTHORS   Chen,J., Huang,P., He,Y., Shen,J., Du,J., Cui,S., Cui,P., Chen,S.
            and Ma,J.
  TITLE     A haplotype of MAP2K5/SKOR1 was associated with essential tremor in
            Chinese population
  JOURNAL   Parkinsonism Relat Disord 53, 118-119 (2018)
   PUBMED   29798820
  REMARK    GeneRIF: MAP2K5/SKOR1 may be associated with Chinese essential
            tremor patients.
REFERENCE   4  (bases 1 to 3738)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 3738)
  AUTHORS   Winkelmann,J., Czamara,D., Schormair,B., Knauf,F., Schulte,E.C.,
            Trenkwalder,C., Dauvilliers,Y., Polo,O., Hogl,B., Berger,K.,
            Fuhs,A., Gross,N., Stiasny-Kolster,K., Oertel,W., Bachmann,C.G.,
            Paulus,W., Xiong,L., Montplaisir,J., Rouleau,G.A., Fietze,I.,
            Vavrova,J., Kemlink,D., Sonka,K., Nevsimalova,S., Lin,S.C.,
            Wszolek,Z., Vilarino-Guell,C., Farrer,M.J., Gschliesser,V.,
            Frauscher,B., Falkenstetter,T., Poewe,W., Allen,R.P., Earley,C.J.,
            Ondo,W.G., Le,W.D., Spieler,D., Kaffe,M., Zimprich,A., Kettunen,J.,
            Perola,M., Silander,K., Cournu-Rebeix,I., Francavilla,M.,
            Fontenille,C., Fontaine,B., Vodicka,P., Prokisch,H., Lichtner,P.,
            Peppard,P., Faraco,J., Mignot,E., Gieger,C., Illig,T.,
            Wichmann,H.E., Muller-Myhsok,B. and Meitinger,T.
  TITLE     Genome-wide association study identifies novel restless legs
            syndrome susceptibility loci on 2p14 and 16q12.1
  JOURNAL   PLoS Genet 7 (7), e1002171 (2011)
   PUBMED   21779176
  REMARK    Erratum:[PLoS Genet. 2011 Aug;7(8). doi:
            10.1371/annotation/393ad2d3-df4f-4770-87bc-00bfabf79362]
REFERENCE   6  (bases 1 to 3738)
  AUTHORS   Kemlink,D., Polo,O., Frauscher,B., Gschliesser,V., Hogl,B.,
            Poewe,W., Vodicka,P., Vavrova,J., Sonka,K., Nevsimalova,S.,
            Schormair,B., Lichtner,P., Silander,K., Peltonen,L., Gieger,C.,
            Wichmann,H.E., Zimprich,A., Roeske,D., Muller-Myhsok,B.,
            Meitinger,T. and Winkelmann,J.
  TITLE     Replication of restless legs syndrome loci in three European
            populations
  JOURNAL   J Med Genet 46 (5), 315-318 (2009)
   PUBMED   19279021
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3738)
  AUTHORS   Winkelmann,J.
  TITLE     Genetics of restless legs syndrome
  JOURNAL   Curr Neurol Neurosci Rep 8 (3), 211-216 (2008)
   PUBMED   18541116
  REMARK    GeneRIF: MEIS1 and LBXCOR1 are developmental factors and raise new
            pathophysiologic questions for RLS.
            Review article
REFERENCE   8  (bases 1 to 3738)
  AUTHORS   Winkelmann,J., Schormair,B., Lichtner,P., Ripke,S., Xiong,L.,
            Jalilzadeh,S., Fulda,S., Putz,B., Eckstein,G., Hauk,S.,
            Trenkwalder,C., Zimprich,A., Stiasny-Kolster,K., Oertel,W.,
            Bachmann,C.G., Paulus,W., Peglau,I., Eisensehr,I., Montplaisir,J.,
            Turecki,G., Rouleau,G., Gieger,C., Illig,T., Wichmann,H.E.,
            Holsboer,F., Muller-Myhsok,B. and Meitinger,T.
  TITLE     Genome-wide association study of restless legs syndrome identifies
            common variants in three genomic regions
  JOURNAL   Nat Genet 39 (8), 1000-1006 (2007)
   PUBMED   17637780
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3738)
  AUTHORS   Arndt,S., Poser,I., Moser,M. and Bosserhoff,A.K.
  TITLE     Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP
            signaling
  JOURNAL   Mol Cell Neurosci 34 (4), 603-611 (2007)
   PUBMED   17292623
  REMARK    GeneRIF: a novel gene, fussel-15 (functional smad suppressing
            element on chromosome 15) with high homology to the recently
            discovered Fussel-18 protein.
REFERENCE   10 (bases 1 to 3738)
  AUTHORS   Mizuhara,E., Nakatani,T., Minaki,Y., Sakamoto,Y. and Ono,Y.
  TITLE     Corl1, a novel neuronal lineage-specific transcriptional
            corepressor for the homeodomain transcription factor Lbx1
  JOURNAL   J Biol Chem 280 (5), 3645-3655 (2005)
   PUBMED   15528197
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009292.11.
            
            On Sep 15, 2018 this sequence version replaced XM_017022173.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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.
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000380035.3/ ENSP00000369374.2
            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
            1-201               AC009292.11        141185-141385
            202-2410            AC009292.11        141612-143820
            2411-2501           AC009292.11        144855-144945
            2502-2609           AC009292.11        145867-145974
            2610-2681           AC009292.11        146494-146565
            2682-2756           AC009292.11        147950-148024
            2757-2831           AC009292.11        148283-148357
            2832-2897           AC009292.11        148868-148933
            2898-3738           AC009292.11        149418-150258
FEATURES             Location/Qualifiers
     source          1..3738
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..3738
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="SKI family transcriptional corepressor 1"
                     /db_xref="GeneID:390598"
                     /db_xref="HGNC:HGNC:21326"
                     /db_xref="MIM:611273"
     exon            1..201
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..2992
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="corepressor for LBX1; ladybird homeobox corepressor
                     1; transcriptional corepressor CORL1; LBX1 corepressor 1;
                     functional Smad-suppressing element on chromosome 15;
                     Lbxcor1 homolog"
                     /codon_start=1
                     /product="SKI family transcriptional corepressor 1"
                     /protein_id="NP_001352844.1"
                     /db_xref="CCDS:CCDS92030.1"
                     /db_xref="GeneID:390598"
                     /db_xref="HGNC:HGNC:21326"
                     /db_xref="MIM:611273"
                     /translation="MALLCGLGQVTLRIWVSLPSQSENGIGFLAARAFLRSGGMEALT
                     TQLGPGREGSSSPNSKQELQPYSGSSALKPNQVGETSLYGVPIVSLVIDGQERLCLAQ
                     ISNTLLKNYSYNEIHNRRVALGITCVQCTPVQLEILRRAGAMPISSRRCGMITKREAE
                     RLCKSFLGEHKPPKLPENFAFDVVHECAWGSRGSFIPARYNSSRAKCIKCGYCSMYFS
                     PNKFIFHSHRTPDAKYTQPDAANFNSWRRHLKLSDKSATDELSHAWEDVKAMFNGGTR
                     KRTFSLQGGGGGGANGGSGGQGKGGAGGGGGGGPGCGAEMAPGPPPHKSLRCGEDEAA
                     GPPGPPPPHPQRGLGLATGASGPAGPGGPGGGAGVRSYPVIPVPSKGFGLLQKLPPPL
                     FPHPYGFPTAFGLCPKKDDPVLGAGEPKGGPGTGSGGGGAGTGGGAGGPGASHLPPGA
                     GAGPGGGAMFWGHQPSGAAKDAAAVAAAAAAATVYPTFPMFWPAAGSLPVPSYPAAQS
                     QAKAVAAAVAAAAAAAAAAAGSGAPEPLDGAEPAKESGLGAEERCPSALSRGPLDEDG
                     TDEALPPPLAPLPPPPPPPARKGSYVSAFRPVVKDTESIAKLYGSAREAYGAGPARGP
                     GPGAGSGGYVSPDFLSEGSSSYNSASPDVDTADEPEVDVESNRFPDDEDAQEETEPSA
                     PSAGGGPDGEQPTGPPSATSSGADGPANSPDGGSPRPRRRLGPPPAGRPAFGDLAAED
                     LVRRPERSPPSGGGGYELREPCGPLGGPAPAKVFAPERDEHVKSAAVALGPAASYVCT
                     PEAHEPDKEDNHSPADDLETRKSYPDQRSISQPSPANTDRGEDGLTLDVTGTHLVEKD
                     IENLAREELQKLLLEQMELRKKLEREFQSLKDNFQDQMKRELAYREEMVQQLQIVRDT
                     LCNELDQERKARYAIQQKLKEAHDALHHFSCKMLTPRHCTGNCSFKPPLLP"
     exon            202..2410
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2411..2501
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2502..2609
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2610..2681
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2682..2756
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2757..2831
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2832..2897
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2898..3738
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3439..3444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="hexamer: TATAAA"
     polyA_site      3467
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="major polyA site"
     regulatory      3701..3706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="hexamer: AATAAT"
     regulatory      3713..3718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
                     /note="hexamer: AATAAA"
     polyA_site      3719
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
     polyA_site      3738
                     /gene="SKOR1"
                     /gene_synonym="CORL1; FUSSEL15; LBXCOR1"
ORIGIN      
        1 gaagtccggg cttcaggacc cgggccggca gcaccggctg cgagggttgc cgaaggcgca
       61 cggatctggg cgctgaaaaa gccaggattt ggcaatggct ttgctgtgtg gccttgggca
      121 agtcactctg cgtatctggg tttcacttcc ttcccaatcc gaaaacggga ttgggttcct
      181 tgcagcccgg gcattcctga ggagcggcgg catggaggct ctcaccactc agctggggcc
      241 ggggcgcgag ggcagttcct cgcccaactc caagcaggag ctgcagccgt actcgggctc
      301 cagcgctctc aaacccaacc aggtgggcga gacgtcgctg tacggggtgc ccattgtgtc
      361 gctggtcatc gacggccagg agcgcctatg cctggcgcag atctccaaca ccctcctcaa
      421 gaactacagc tataatgaga tccacaaccg ccgcgtggcc ctgggcatca cgtgcgtgca
      481 gtgcacgccg gtacagctgg agattctgcg tcgggccggg gccatgccca tctcgtcgcg
      541 ccgctgcggc atgatcacta agcgagaggc cgaacgcctg tgcaagtcgt tcctgggcga
      601 gcacaaacca cccaagctgc ccgagaactt cgccttcgat gtggtgcacg agtgcgcgtg
      661 gggctcgcgt ggtagcttca tccctgcgcg ttacaacagc tctcgtgcca agtgcatcaa
      721 gtgcggctac tgcagcatgt acttctcgcc caacaagttc atcttccact cgcaccgaac
      781 acccgacgcc aagtacacgc agcccgatgc cgccaacttc aactcctggc gtcgtcacct
      841 caaactcagt gacaagtcgg ccacagacga actgagccat gcttgggagg acgtcaaggc
      901 catgtttaat ggcggcacgc gcaagcggac cttctcccta caaggaggcg gcggaggcgg
      961 tgccaatggc gggtcgggtg ggcaggggaa gggtggtgct ggcggcggtg gcggcggtgg
     1021 cccagggtgc ggtgcagaga tggccccagg cccgccgccc cacaaaagcc tgcgctgtgg
     1081 cgaagatgag gctgccgggc ctccggggcc acctccaccc cacccgcagc gcggacttgg
     1141 cctggcgact ggagctagtg gcccggcggg cccaggaggg cccggtggcg gcgccggcgt
     1201 acgaagctac ccggtgatcc cggtgcccag caaaggcttt gggctcctgc aaaagctgcc
     1261 cccaccactt ttcccccatc cttacggctt ccctacggcc ttcggcctat gccccaaaaa
     1321 ggacgacccg gttttaggcg cgggcgagcc aaagggcggt cctggcactg ggagcggcgg
     1381 cggcggcgcg gggacaggcg ggggtgcggg gggcccggga gccagccact tgcccccggg
     1441 ggcaggggcg ggcccgggcg gcggcgccat gttctggggg catcaaccct ccggggcagc
     1501 caaggacgca gcggcagtgg ctgcagcggc cgccgccgcc actgtgtacc cgacgtttcc
     1561 catgttctgg ccagcagcag gcagcctccc ggtaccgtcc taccccgctg ctcagagcca
     1621 agccaaggcc gtggcggcag ccgtggcggc ggcagcggcg gcggcagcgg cagctgctgg
     1681 cagcggtgcc ccagagcccc tggacggtgc cgagccagcc aaagagagtg gcctcggcgc
     1741 ggaggagcgc tgcccgagcg ctctgtcccg cgggcccctg gacgaagacg gcacggacga
     1801 ggcgctgcca ccgcccctgg ccccgttgcc cccgccgccc ccgccgcccg cacgcaaagg
     1861 ctcctacgtg tcggccttcc ggccggtggt caaggacacc gagagcatcg ctaagctcta
     1921 cgggagcgcc cgggaggcgt acggcgcggg gcctgctcgg gggccgggac ccggcgctgg
     1981 gagcggcggc tacgtgagcc cggactttct gagcgagggc agctccagct acaattccgc
     2041 ctcgcccgac gtggacaccg cggacgagcc cgaggtggac gtggaatcca accgcttccc
     2101 cgacgacgag gacgcccaag aggagaccga gcccagcgca cccagcgcag ggggcggccc
     2161 agacggtgaa cagcccactg gacccccttc cgccacctcc tctggcgcgg acggtcccgc
     2221 aaactctccc gacggcggca gcccccgccc ccggcgccgc ctcgggccac ccccagctgg
     2281 ccggcccgca tttggggact tggcagccga agacttggtg cggagacctg agaggagccc
     2341 gccaagcggc ggcggcggct acgagctgcg agagccttgc gggcccctag gaggccccgc
     2401 gccggccaag gtgttcgcgc ccgagaggga tgagcacgtg aagagcgcgg cggtggcgct
     2461 ggggcccgcg gcctcctacg tctgcacccc cgaggcccac gagccagata aggaagacaa
     2521 tcactcgccc gccgatgatt tggaaacgag gaaatcctat ccagaccaaa ggagtatctc
     2581 ccagccaagt cctgcaaata cagacagagg cgaagatggg cttaccttgg atgtcacagg
     2641 aactcatttg gtggagaaag atatcgagaa cctggccaga gaggaattgc aaaaactgct
     2701 cctggaacaa atggagctcc gcaagaagct ggaacgggaa tttcagagtc tcaaagataa
     2761 ttttcaggat caaatgaaga gggaattggc ttatcgagaa gaaatggtgc aacagctgca
     2821 aattgtcaga gataccctgt gtaacgaact cgaccaggag cggaaggcgc gctatgccat
     2881 ccagcagaaa ttgaaagaag cccacgacgc cctgcaccat ttctcctgca agatgctgac
     2941 gccccgccac tgcactggca actgctcctt caagccaccg ctgttgccct agggccggcc
     3001 tggccgcacc cctgcgccct caagccatgc tgctccttgt aaatacccgc tgctgcggtg
     3061 gccctgagcg aggaacaagc cattcggacc cgaccgatgt aaatacagcc gcccgtccgc
     3121 ccgccttcct cccgggctcc ccggccttgc ccgccccctc ccgggcgtcc ctgtccaggg
     3181 ccccggcttg gtttccaagt gtaaataccg cctcgcgcct caaatccccc taccccgtgt
     3241 gaactctagg gcatcggacc tcaaggggtt aactggacag acggggggcg ggaggggaga
     3301 gcgccccctc ccattgtata gccttgaacc cgattgtgaa tacaatgtag caacttcgct
     3361 ggcgcctgcc ccgcactccc cgtcccgtcc acttctgaaa ctcctgttcc taatgacaaa
     3421 gtggctatgt gcaatggata taaatgtact gtgagtctct cggttcagta ttaggttcac
     3481 tttaatttat ttatgctgta agttattttt gcttccttct cctggaccca cttccagtcc
     3541 cgttttgcat tcccctttgg attttgcttt ggctattttt tgttgtaacc tcttgatgta
     3601 acagcacttt aaaagggcga caactgactc acgagatggc aaccacctgg agcctgtttg
     3661 gggagaccac cctgtacccg tgactttcgt ttttaataat aataataata ataataaaag
     3721 atgtcacttc tggggcta
//
