LOCUS       NM_001145250            2554 bp    mRNA    linear   PRI 06-NOV-2024
DEFINITION  Homo sapiens Sp9 transcription factor (SP9), mRNA.
ACCESSION   NM_001145250 XM_001721888
VERSION     NM_001145250.2
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 2554)
  AUTHORS   Tessarech,M., Friocourt,G., Marguet,F., Lecointre,M., Le Mao,M.,
            Diaz,R.M., Mignot,C., Keren,B., Heron,B., De Bie,C., Van Gassen,K.,
            Loisel,D., Delorme,B., Syrbe,S., Klabunde-Cherwon,A., Jamra,R.A.,
            Wegler,M., Callewaert,B., Dheedene,A., Zidane-Marinnes,M.,
            Guichet,A., Bris,C., Van Bogaert,P., Biquard,F., Lenaers,G.,
            Marcorelles,P., Ferec,C., Gonzalez,B., Procaccio,V., Vitobello,A.,
            Bonneau,D., Laquerriere,A., Khiati,S. and Colin,E.
  TITLE     De novo variants in SP9 cause a novel form of interneuronopathy
            characterized by intellectual disability, autism spectrum disorder,
            and epilepsy with variable expressivity
  JOURNAL   Genet Med 26 (5), 101087 (2024)
   PUBMED   38288683
  REMARK    GeneRIF: De novo variants in SP9 cause a novel form of
            interneuronopathy characterized by intellectual disability, autism
            spectrum disorder, and epilepsy with variable expressivity.
REFERENCE   2  (bases 1 to 2554)
  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   3  (bases 1 to 2554)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018470.11.
            
            On Nov 28, 2018 this sequence version replaced NM_001145250.1.
            
            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.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2142853,
                              SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394967.3/ ENSP00000378418.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AC018470.11        30599-30758
            161-2554            AC018470.11        31752-34145
FEATURES             Location/Qualifiers
     source          1..2554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..2554
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /note="Sp9 transcription factor"
                     /db_xref="GeneID:100131390"
                     /db_xref="HGNC:HGNC:30690"
                     /db_xref="MIM:621003"
     exon            1..160
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1594
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /note="zinc finger protein 990; Sp9 transcription factor
                     homolog"
                     /codon_start=1
                     /product="transcription factor Sp9"
                     /protein_id="NP_001138722.1"
                     /db_xref="CCDS:CCDS46453.1"
                     /db_xref="GeneID:100131390"
                     /db_xref="HGNC:HGNC:30690"
                     /db_xref="MIM:621003"
                     /translation="MATSILGEEPRFGTTPLAMLAATCNKIGNTSPLTTLPESSAFAK
                     GGFHPWKRSSSSCNLGSSLSGFAVATGGRGSGGLAGGSGAANSAFCLASTSPTSSAFS
                     SDYGGLFSNSAAAAAAAAGVSPQEAGGQSAFISKVHTTAADGLYPRVGMAHPYESWYK
                     SGFHSTLAAGEVTNGAASSWWDVHSSPGSWLEVQNPAGGLQSSLHSGAPQASLHSQLG
                     TYNPDFSSLTHSAFSSTGLGSSAAAASHLLSTSQHLLAQDGFKPVLPSYSDSSAAVAA
                     AAASAMISGAAAAAAGGSSARSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSC
                     HIPGCGKVYGKTSHLKAHLRWHTGERPFVCNWLFCGKRFTRSDELQRHLRTHTGEKRF
                     ACPVCNKRFMRSDHLSKHIKTHNGGGGGKKGSDSDTDASNLETPRSESPDLILHDSGV
                     SAARAAAAAAAAAAAAAAAASAGGKEAASGPNDS"
     exon            161..2554
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2476..2481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /note="hexamer: ATTAAA"
     polyA_site      2504
                     /gene="SP9"
                     /gene_synonym="ZNF990"
     regulatory      2534..2539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /note="hexamer: ATTAAA"
     polyA_site      2554
                     /gene="SP9"
                     /gene_synonym="ZNF990"
                     /note="major polyA site"
ORIGIN      
        1 gagtttagcc ggcgggagcc tggagtccgc tcggcacgag cgcggggacg cgggagccgc
       61 gcgggaccca agcagttttt ccgagcagcc gccaggctca gccccgctcc cagcctcgct
      121 gcgcagccag agacctgcta tggccacgtc tatactcggg gaagagccgc gcttcggaac
      181 gaccccgttg gccatgctgg cggcgacctg caacaagatc ggcaacacga gcccgctgac
      241 gacgctgcca gagtcgagcg ccttcgccaa aggcggcttt cacccctgga agcgctcctc
      301 gtccagctgc aacctcggct ccagcctctc gggcttcgcg gtggccaccg ggggccgtgg
      361 ctcgggcggc ctggcgggcg gctcgggcgc cgccaacagc gccttctgcc tggcctccac
      421 gtcgcccacg tcgtccgcct tcagcagcga ctacggcggc ctcttctcca actcggcggc
      481 tgccgcggcg gcagcggccg gggtgtcccc gcaggaggcg ggtggccagt cggccttcat
      541 ttccaaggtg cacacgacgg cagccgacgg gctgtacccg cgcgtgggca tggcgcaccc
      601 gtacgagtcc tggtacaagt cgggcttcca ttcgacgctg gcggccggcg aggtgaccaa
      661 cggcgcggcg tcgtcgtggt gggacgtgca cagcagcccg ggctcgtggc tggaagtgca
      721 gaaccccgct ggggggctcc agagctcgct gcactcgggc gccccccagg cctcgctgca
      781 ctcgcagctg ggcacctaca accccgactt cagctcgctc acgcactccg ccttcagctc
      841 cacgggcctc ggctcctccg ccgccgccgc ctcccacctg ctctccacca gccagcacct
      901 gctggcccag gacggcttca agccggtgtt gccctcctat tcggactcca gcgccgccgt
      961 ggcagccgcc gccgccagcg ccatgatatc gggcgccgcg gctgccgccg ccggggggag
     1021 ctcggcacgc tctgcccgcc gctactcggg ccgcgccacc tgcgactgcc ccaactgcca
     1081 ggaggcggag cggctgggcc cggccggggc gagcctgcgg cgcaagggcc tgcacagctg
     1141 ccacattccg ggctgcggca aggtgtacgg gaagacgtcg cacctgaagg cgcacctgcg
     1201 ctggcacacg ggcgagcggc ccttcgtgtg caactggctc ttctgcggca agcgcttcac
     1261 gcgctcggac gagctgcagc ggcatctgcg gactcacacg ggcgagaagc gcttcgcctg
     1321 tccggtgtgc aacaagcgct tcatgcgcag cgaccacctg agcaaacaca ttaagacgca
     1381 caacgggggc ggcgggggca aaaagggcag cgacagtgac acggacgcca gcaacctgga
     1441 gacgccccgt tccgaatccc ccgacctcat cctgcatgac tccggcgtca gtgccgcccg
     1501 ggcggcggca gcggcggcgg cggcagcggc ggcggcggcg gcggcggcct ccgcgggagg
     1561 caaggaagca gcgtctggcc ccaacgactc ttagaggccg ggcgagaggc gcgagcacac
     1621 aagcgagtag agacaccgag aacgaacgag aggttcggag ggcgagcgag cgggaggcgg
     1681 gagggcaggg gcttcagtga cgcccccagg gcccgggctg ggcgcgaggt ggagccgctc
     1741 agggctcccg ggctgcggtt cgcccgctgt gcgaggagct cccctctgcc ttccgcgccc
     1801 ggataagaat cgaacgcgtg gtccggaaac aaaagcgaac catcctccga cacaaacact
     1861 ttaaaaactg tactcccaga cgtacacata caccggagac ctacaaccac aagcacgcac
     1921 actcgcgcgc gcacacacat accactcgcc caaacttctc gagcgaagag caatacatag
     1981 aaaggctccc tctttgccca ctctccacct ccctccaaca cccgtctctt tccttttctc
     2041 aaaaacaagc caccacccag caaaggactg tcagaacatt tgaaaacaaa cgggaccgat
     2101 aaaaacaccc tttgtttgga ttatattata tataaaatgc tccaagtcct gcctgatatc
     2161 tacttacaat gagacttttt tcctaaaaaa ggaagcatca aaaggcttaa ggtgagaaat
     2221 taaactggaa gtctagcgac agtttctctg tatttcataa catctgtata aatagggttc
     2281 aaaagattgt gttctctttt attttcttgt aaatgttcat tcgaatagag tttttttggg
     2341 tgaatccctg aaattcaggg agtttttttt aattttctga tgcactttgt gaaagtcagt
     2401 atatatgtaa aagatattta aaatgttgag ttatcatttc actcacaaac acgtaagtta
     2461 aggtcatcta aagaaattaa atgcgtttat ctgtatcaag aaaatcttga catcatattt
     2521 tcattttggt attattaaag gactctgaac aata
//
