LOCUS       NM_182700               3626 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens Sp8 transcription factor (SP8), transcript variant 1,
            mRNA.
ACCESSION   NM_182700 XM_166519 XM_353565
VERSION     NM_182700.6
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 3626)
  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   2  (bases 1 to 3626)
  AUTHORS   Jia,S.N., Lin,C., Chen,D.F., Li,A.Q., Dai,L., Zhang,L., Zhao,L.L.,
            Yang,J.S., Yang,F. and Yang,W.J.
  TITLE     The Transcription Factor p8 Regulates Autophagy in Response to
            Palmitic Acid Stress via a Mammalian Target of Rapamycin
            (mTOR)-independent Signaling Pathway
  JOURNAL   J Biol Chem 291 (9), 4462-4472 (2016)
   PUBMED   26733200
  REMARK    GeneRIF: Data suggest expression of transcription factor p8/SP8 is
            up-regulated in endoplasmic reticulum stress due to lipotoxicity;
            overexpression of SP8 up-regulates autophagy; autophagy due to
            lipotoxicity requires SP8; these reactions are mTOR-independent.
REFERENCE   3  (bases 1 to 3626)
  AUTHORS   Kondo,K., Ikeda,M., Kajio,Y., Saito,T., Iwayama,Y., Aleksic,B.,
            Yamada,K., Toyota,T., Hattori,E., Ujike,H., Inada,T., Kunugi,H.,
            Kato,T., Yoshikawa,T., Ozaki,N. and Iwata,N.
  TITLE     Genetic variants on 3q21 and in the Sp8 transcription factor gene
            (SP8) as susceptibility loci for psychotic disorders: a genetic
            association study
  JOURNAL   PLoS One 8 (8), e70964 (2013)
   PUBMED   23967141
  REMARK    GeneRIF: Genetic variants on 3q21 and in the Sp8 transcription
            factor gene (SP8) as susceptibility loci for psychotic disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3626)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   5  (bases 1 to 3626)
  AUTHORS   Lee,M.T., Chen,C.H., Lee,C.S., Chen,C.C., Chong,M.Y., Ouyang,W.C.,
            Chiu,N.Y., Chuo,L.J., Chen,C.Y., Tan,H.K., Lane,H.Y., Chang,T.J.,
            Lin,C.H., Jou,S.H., Hou,Y.M., Feng,J., Lai,T.J., Tung,C.L.,
            Chen,T.J., Chang,C.J., Lung,F.W., Chen,C.K., Shiah,I.S., Liu,C.Y.,
            Teng,P.R., Chen,K.H., Shen,L.J., Cheng,C.S., Chang,T.P., Li,C.F.,
            Chou,C.H., Chen,C.Y., Wang,K.H., Fann,C.S., Wu,J.Y., Chen,Y.T. and
            Cheng,A.T.
  TITLE     Genome-wide association study of bipolar I disorder in the Han
            Chinese population
  JOURNAL   Mol Psychiatry 16 (5), 548-556 (2011)
   PUBMED   20386566
  REMARK    GeneRIF: This study provided that SP8 are associated with Bipolar I
            in the Han Chinese population
REFERENCE   6  (bases 1 to 3626)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS One 5 (7), e11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3626)
  AUTHORS   Barber,M.J., Mangravite,L.M., Hyde,C.L., Chasman,D.I., Smith,J.D.,
            McCarty,C.A., Li,X., Wilke,R.A., Rieder,M.J., Williams,P.T.,
            Ridker,P.M., Chatterjee,A., Rotter,J.I., Nickerson,D.A.,
            Stephens,M. and Krauss,R.M.
  TITLE     Genome-wide association of lipid-lowering response to statins in
            combined study populations
  JOURNAL   PLoS One 5 (3), e9763 (2010)
   PUBMED   20339536
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3626)
  AUTHORS   Milona,M.A., Gough,J.E. and Edgar,A.J.
  TITLE     Genomic structure and cloning of two transcript isoforms of human
            Sp8
  JOURNAL   BMC Genomics 5, 86 (2004)
   PUBMED   15533246
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3626)
  AUTHORS   Treichel,D., Schock,F., Jackle,H., Gruss,P. and Mansouri,A.
  TITLE     mBtd is required to maintain signaling during murine limb
            development
  JOURNAL   Genes Dev 17 (21), 2630-2635 (2003)
   PUBMED   14597661
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY167047.1, AC005060.3,
            KF511006.1 and AI632278.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_182700.5.
            
            Summary: The protein encoded by this gene is an SP family
            transcription factor that in mouse has been shown to be essential
            for proper limb development. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2011].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY167047.1, DA866987.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2153427
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000418710.3/ ENSP00000408792.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1618              AY167047.1         1-1618
            1619-3092           AC005060.3         117181-118654       c
            3093-3282           KF511006.1         1-190               c
            3283-3604           AC005060.3         116670-116991       c
            3605-3626           AI632278.1         15-36               c
FEATURES             Location/Qualifiers
     source          1..3626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..3626
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /note="Sp8 transcription factor"
                     /db_xref="GeneID:221833"
                     /db_xref="HGNC:HGNC:19196"
                     /db_xref="MIM:608306"
     exon            1..109
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1615
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     specificity protein 8"
                     /codon_start=1
                     /product="transcription factor Sp8 isoform 1"
                     /protein_id="NP_874359.2"
                     /db_xref="CCDS:CCDS43555.1"
                     /db_xref="GeneID:221833"
                     /db_xref="HGNC:HGNC:19196"
                     /db_xref="MIM:608306"
                     /translation="MATSLLGEEPRLGSTPLAMLAATCNKIGSPSPSPSSLSDSSSSF
                     GKGFHPWKRSSSSSSASCNVVGSSLSSFGVSGASRNGGSSSAAAAAAAAAAAAAALVS
                     DSFSCGGSPGSSAFSLTSSSAAAAAAAAAAAASSSPFANDYSVFQAPGVSGGSGGGGG
                     GGGGGSSAHSQDGSHQPVFISKVHTSVDGLQGIYPRVGMAHPYESWFKPSHPGLGAAG
                     EVGSAGASSWWDVGAGWIDVQNPNSAAALPGSLHPAAGGLQTSLHSPLGGYNSDYSGL
                     SHSAFSSGASSHLLSPAGQHLMDGFKPVLPGSYPDSAPSPLAGAGGSMLSAGPSAPLG
                     GSPRSSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHIPGCGKVYGKTSHLK
                     AHLRWHTGERPFVCNWLFCGKRFTRSDELQRHLRTHTGEKRFACPVCNKRFMRSDHLS
                     KHVKTHSGGGGGGGSAGSGSGGKKGSDTDSEHSAAGSPPCHSPELLQPPEPGHRNGLE
                     "
     exon            110..3626
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3350..3355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /note="hexamer: AATAAA"
     polyA_site      3374
                     /gene="SP8"
                     /gene_synonym="BTD"
     regulatory      3605..3610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /note="hexamer: AATAAA"
     polyA_site      3626
                     /gene="SP8"
                     /gene_synonym="BTD"
                     /note="major polyA site"
ORIGIN      
        1 attgtattgc acacctctaa aaaaaacact gcctctgatt tatcaatata aaaaagatcc
       61 tctgagagga ggagggcact tttgtgtgat ggcaacttca cttctagggg aagaaccgag
      121 gttgggatcg actcctctgg ccatgcttgc cgctacctgt aataagatag gcagccccag
      181 cccgtctccc tcctccctct cggacagctc ttcttccttc ggcaaaggct tccacccctg
      241 gaaacgctcc tcgtcctctt cttccgccag ctgcaacgta gtgggttcca gtctctcaag
      301 cttcggcgtg tccggggcct ccaggaacgg cggctcgtcc tcggcggctg cggcggccgc
      361 ggcagcagcc gcggctgccg cggccctggt gtccgactcg ttcagctgcg gcggctcgcc
      421 tggctccagc gccttctccc tcacctccag cagcgccgca gccgccgccg ccgccgccgc
      481 agccgccgcc tccagctcgc ccttcgccaa cgactactct gttttccagg cccccggagt
      541 ttccgggggc agcggcggcg gcggcggggg cggcggcggc ggctcctccg cgcactcgca
      601 ggacggctcc caccagccgg tgttcatctc caaggtgcac acctctgtgg acgggctgca
      661 gggcatctac ccgcgggtgg gcatggcgca cccgtacgag tcgtggttta agccctcgca
      721 cccgggcctg ggtgctgcgg gcgaggtggg ctcggccggc gcctccagct ggtgggacgt
      781 gggggccggc tggatcgacg tgcagaaccc gaacagcgcg gctgcgctgc ccggctcgct
      841 gcaccctgcc gccggggggc tccaaacctc gctgcactcg ccgctcggag gctacaactc
      901 ggattactcg ggcctgagtc actcggcctt cagcagcggc gcctcctcgc acctgctcag
      961 ccccgccggg cagcacctca tggacggctt caagccagtg ctacccggct cctacccgga
     1021 ctcggccccg tcgccgctgg ccggcgcggg gggctccatg ttgagcgctg ggccttcggc
     1081 gccgctgggg ggctccccgc gctcctcagc tcgccgctac tccggccgcg ccacctgcga
     1141 ctgccccaac tgccaggagg cagagcggct gggccctgcc ggggcgagct tgcggcgcaa
     1201 gggcctgcac agctgccaca tcccgggctg cggcaaggtg tacggcaaga cttcgcacct
     1261 caaggcgcac ctgcgctggc acacgggcga gcggcccttc gtgtgcaact ggcttttctg
     1321 cggcaagcgc ttcacgcgct ccgacgagct gcagcggcac ctgcggaccc acaccggcga
     1381 gaagcgcttc gcctgtccag tttgcaacaa gcgcttcatg cgcagcgacc acctcagcaa
     1441 gcacgtgaag acgcacagtg gcggcggcgg cggcggcggc tcggcgggct cgggcagcgg
     1501 cggcaagaag ggcagcgaca ccgacagcga gcacagcgcc gcgggcagcc cgccctgcca
     1561 ctccccagag ctgctgcagc cccccgagcc cgggcaccgc aacggcctag agtgacgccc
     1621 accctgcgcc cgcccctctc cccgacctcc tcccaccaag tcctcttggg ccctgtctgt
     1681 ccggacttca actccagcct ttccctattg catccgactc gctctctgtc tctttctgtt
     1741 tctgcccctc ttccttcttc cttctgtgac ttaactttgt aaaggggata tggacaagta
     1801 agtaacacgc atcgctgtcc cgggccctgg ctttcccttt ccacgggtaa cgctgcctga
     1861 acccgttgca gccggaaccc gcgcctcgtc gggcctttat ttctcgttct ctcttccttg
     1921 tcctcccctc ctccaccccc caggttgtga agggcgtaac ttttagaggg aacggccact
     1981 ggaggtagag ctggactaat ccagtgcctg gtagacagcg ggcctcgcgc gggcaggagc
     2041 ggctcggctg acaagcctga gcggagcggt ggagagggag aggctggagg cctgggcaga
     2101 acagcgccgc ccgggcagac ggctgcttgg ttccagagcc gctgtactga gcacctcggc
     2161 ttcggagcac cctgccaggc ccctgggcat cgccggacgt cctactcagg ctgtcggggc
     2221 ttggtggggg tgacttttgg cagcccgaga cccagagttt gtagagttta gatctcccaa
     2281 tgtcagtctg cctctttttc tttgttccct gaggtggaac cgatgcaagt ttcagcaaag
     2341 ggcagtcttg tcgaatcgct gcagcagctt tctttcatct ttatagcata tattttattt
     2401 ttaaaaaaac tagggggaaa atagcaacct tccatttggt ttcccttcta taatagtttt
     2461 ttcctctaac ggggagcaat ctttctctcg aaactgctaa tattgatccc aaagttactt
     2521 tgactgcatt aacttaactt acggggtggg ggcgggggtg agggtaggtg cttttttctt
     2581 atgcaaaaat actcctttcc ggtgagacca gattaactat ctccatgttt gtccttttct
     2641 acctcgtttt ttcaccactc ccaaacataa cctcccaatc ttttttgtta gtccggccgt
     2701 caattgtata gtaccaattt cgtaaattct ctcaattcat gaagatcgta gggttaaact
     2761 tttttgtgtg tgatttaaac ttacaaacaa gtgaagaagc tatcgtttat ttcagacgag
     2821 gctgtagttt aaataccaaa agagggaaaa taaaaaagaa cctttgtaaa atatatctga
     2881 acctaatggt ttgtacaact ggagaatcgt tctagattag ttaccaatta aatataactc
     2941 cgccagtgta agggtgtgag gtgcagttgt ccaggagacg attttgtata gtatttttct
     3001 tgtacattac ttccagtaaa tatttgaaaa tatattgaag taaacttgat tttttttttt
     3061 tgtcacaaga aaatattaag agttattgtt gcagttctga tgagctgcag gttttttgaa
     3121 ctcacttctg gaggtgcaga gccacaaacg cactttcggg gcctagtttt gctcgaatat
     3181 gaatttagat aggtatcaag ctgtaactaa gacaatattt gataaatgtt ggatgacatt
     3241 taatttaatg gagcatgtac ttatttgcat ttgctggcag ttcaggcata gttaaagtga
     3301 gagttctcct atatttcata ataagtggtc tgccaaaacc catgtattaa ataaattgtc
     3361 caagtgaaac tcgactaact ttggcctttg tgtatttcct gaaggtaata ttgttaactg
     3421 ttaataaata cttctgacac tacatttaaa tgtttgcaga ttctgcaaac taattgctca
     3481 ttgtaatgtt gaaataattt ggatatttca cattgaaatg aaaagccttt ctctggagca
     3541 ttttagattt gcattttaaa tgcatgaaat gtaattgatt tatttgtaat attttaaatg
     3601 gtataataaa ctcagataaa agacta
//
