LOCUS       NM_001258248            3824 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens Sp6 transcription factor (SP6), transcript variant 1,
            mRNA.
ACCESSION   NM_001258248
VERSION     NM_001258248.2
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 3824)
  AUTHORS   Sipeky,C., Tammela,T.L.J., Auvinen,A. and Schleutker,J.
  TITLE     Novel prostate cancer susceptibility gene SP6 predisposes patients
            to aggressive disease
  JOURNAL   Prostate Cancer Prostatic Dis 24 (4), 1158-1166 (2021)
   PUBMED   34012061
  REMARK    GeneRIF: Novel prostate cancer susceptibility gene SP6 predisposes
            patients to aggressive disease.
REFERENCE   2  (bases 1 to 3824)
  AUTHORS   Kim,Y.J., Lee,Y., Zhang,H., Song,J.S., Hu,J.C., Simmer,J.P. and
            Kim,J.W.
  TITLE     A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis
            Imperfecta
  JOURNAL   Genes (Basel) 12 (3), 346 (2021)
   PUBMED   33652941
  REMARK    GeneRIF: A Novel De Novo SP6 Mutation Causes Severe Hypoplastic
            Amelogenesis Imperfecta
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3824)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 3824)
  AUTHORS   Smith,C.E.L., Whitehouse,L.L.E., Poulter,J.A., Wilkinson Hewitt,L.,
            Nadat,F., Jackson,B.R., Manfield,I.W., Edwards,T.A., Rodd,H.D.,
            Inglehearn,C.F. and Mighell,A.J.
  TITLE     A missense variant in specificity protein 6 (SP6) is associated
            with amelogenesis imperfecta
  JOURNAL   Hum Mol Genet 29 (9), 1417-1425 (2020)
   PUBMED   32167558
  REMARK    GeneRIF: A missense variant in specificity protein 6 (SP6) is
            associated with amelogenesis imperfecta.
REFERENCE   5  (bases 1 to 3824)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3824)
  AUTHORS   Nakamura,T., Yoshitomi,Y., Sakai,K., Patel,V., Fukumoto,S. and
            Yamada,Y.
  TITLE     Epiprofin orchestrates epidermal keratinocyte proliferation and
            differentiation
  JOURNAL   J Cell Sci 127 (Pt 24), 5261-5272 (2014)
   PUBMED   25344255
  REMARK    GeneRIF: epiprofin (Epfn, also known as Sp6) plays crucial distinct
            roles in these transition stages as a cell cycle regulator and a
            transcription factor.
REFERENCE   7  (bases 1 to 3824)
  AUTHORS   Sherva,R., Tripodis,Y., Bennett,D.A., Chibnik,L.B., Crane,P.K., de
            Jager,P.L., Farrer,L.A., Saykin,A.J., Shulman,J.M., Naj,A. and
            Green,R.C.
  CONSRTM   GENAROAD Consortium; Alzheimer's Disease Neuroimaging Initiative;
            Alzheimer's Disease Genetics Consortium
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement 10 (1), 45-52 (2014)
   PUBMED   23535033
REFERENCE   8  (bases 1 to 3824)
  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
REFERENCE   9  (bases 1 to 3824)
  AUTHORS   Nakamura,T., Unda,F., de-Vega,S., Vilaxa,A., Fukumoto,S.,
            Yamada,K.M. and Yamada,Y.
  TITLE     The Kruppel-like factor epiprofin is expressed by epithelium of
            developing teeth, hair follicles, and limb buds and promotes cell
            proliferation
  JOURNAL   J Biol Chem 279 (1), 626-634 (2004)
   PUBMED   14551215
REFERENCE   10 (bases 1 to 3824)
  AUTHORS   Scohy,S., Gabant,P., Van Reeth,T., Hertveldt,V., Dreze,P.L., Van
            Vooren,P., Riviere,M., Szpirer,J. and Szpirer,C.
  TITLE     Identification of KLF13 and KLF14 (SP6), novel members of the
            SP/XKLF transcription factor family
  JOURNAL   Genomics 70 (1), 93-101 (2000)
   PUBMED   11087666
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003665.1 and AK127707.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001258248.1.
            
            Summary: SP6 belongs to a family of transcription factors that
            contain 3 classical zinc finger DNA-binding domains consisting of a
            zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines
            (C2H2 motif). These transcription factors bind to GC-rich sequences
            and related GT and CACCC boxes (Scohy et al., 2000 [PubMed
            11087666]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: AK127707.1, DB134308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000536300.2/ ENSP00000438209.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC003665.1         4644-4656
            14-1187             AK127707.1         44-1217
            1188-3079           AC003665.1         8263-10154
            3080-3818           AK127707.1         3108-3846
            3819-3824           AC003665.1         10894-10899
FEATURES             Location/Qualifiers
     source          1..3824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..3824
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="Sp6 transcription factor"
                     /db_xref="GeneID:80320"
                     /db_xref="HGNC:HGNC:14530"
                     /db_xref="MIM:608613"
     exon            1..245
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /inference="alignment:Splign:2.1.0"
     exon            246..3824
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..1433
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="Kruppel-like factor 14; krueppel-like factor 14"
                     /codon_start=1
                     /product="transcription factor Sp6"
                     /protein_id="NP_001245177.1"
                     /db_xref="CCDS:CCDS11520.1"
                     /db_xref="GeneID:80320"
                     /db_xref="HGNC:HGNC:14530"
                     /db_xref="MIM:608613"
                     /translation="MLTAVCGSLGSQHTEAPHASPPRLDLQPLQTYQGHTSPEAGDYP
                     SPLQPGELQSLPLGPEVDFSQGYELPGASSRVTCEDLESDSPLAPGPFSKLLQPDMSH
                     HYESWFRPTHPGAEDGSWWDLHPGTSWMDLPHTQGALTSPGHPGALQAGLGGYVGDHQ
                     LCAPPPHPHAHHLLPAAGGQHLLGPPDGAKALEVAAPESQGLDSSLDGAARPKGSRRS
                     VPRSSGQTVCRCPNCLEAERLGAPCGPDGGKKKHLHNCHIPGCGKAYAKTSHLKAHLR
                     WHSGDRPFVCNWLFCGKRFTRSDELQRHLQTHTGTKKFPCAVCSRVFMRSDHLAKHMK
                     THEGAKEEAAGAASGEGKAGGAVEPPGGKGKREAEGSVAPSN"
     regulatory      2277..2282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="hexamer: AATAAA"
     polyA_site      2298
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="major polyA site"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="hexamer: AATAAA"
     polyA_site      2537
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
     regulatory      3801..3806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="hexamer: AATAAA"
     polyA_site      3824
                     /gene="SP6"
                     /gene_synonym="AI1K; EPFN; EPIPROFIN; KLF14"
                     /note="major polyA site"
ORIGIN      
        1 agagagcgcg ggtgagtcac gggcggagct ggccttgttc gctcgctggc tcctgcccgc
       61 cctccgtcct ccgccctctc gccagcgctc acctccgccg cctgccgcct gccgccagcc
      121 gccgggtctg gctcgccctg ggctcctgcc ccttaccgct ggagagctcg ccggcgcaca
      181 gggcctatga gcgaccgtca gtagcgcacc agccagccgt gcccggagcc cgccgcagcc
      241 tcgaggtccc gtctgaggtg cccctgaccg tccctgccct caccccaccc cggatcccgg
      301 caatgctaac cgctgtctgc ggctctctgg gcagccagca cacggaagcg ccgcacgcct
      361 ccccgccgcg cctcgacctg cagcctctcc aaacttacca gggccacacg agccctgagg
      421 ccggggacta cccctccccg ctgcagcctg gagagctgca gagcctcccg ctgggcccgg
      481 aggtggactt ctcgcagggc tatgagctgc caggggcctc ctcgcgggta acctgcgagg
      541 acctggaaag cgacagtccc ttggccccgg gccccttttc caagctcctg cagccggaca
      601 tgtcacacca ttatgaatcg tggttcaggc cgactcaccc aggcgcggag gatggctcgt
      661 ggtgggacct tcatccgggc accagctgga tggacctccc ccacactcag ggcgcgctga
      721 cctcacctgg ccacccgggg gcgcttcagg cgggcttggg gggctacgtc ggagaccacc
      781 agctttgtgc cccgccaccc cacccgcatg cgcaccacct ccttccagct gccggagggc
      841 agcatctcct agggccgccc gacggggcta aggccttgga agtagccgcc ccggagtctc
      901 aagggctgga ttccagcctg gacggggcgg cgcgtcccaa aggctcccgg cggtcggtgc
      961 cccgcagctc aggccagacc gtctgtcgct gccccaactg tctggaggcg gagcgactgg
     1021 gggctccatg tgggcccgat gggggcaaga agaagcattt gcacaactgc cacatcccgg
     1081 gctgcgggaa agcctacgcc aagacgtcgc acctgaaggc gcacctgcgc tggcacagcg
     1141 gcgaccgtcc cttcgtgtgc aactggctct tctgcggcaa gcgcttcacg cgctcggacg
     1201 agctgcagcg ccacctccag acccacaccg gcaccaagaa gttcccctgt gcagtctgca
     1261 gccgcgtctt catgcgcagc gaccacctgg ccaagcacat gaaaacccac gagggcgcca
     1321 aggaggaggc ggctggggcg gcctcgggag agggcaaggc cggcggcgca gtggagcccc
     1381 ccgggggcaa aggcaaacgc gaggccgagg gcagcgtggc tccctccaac tgagctcctc
     1441 agtgccgcct ccctgcgggt atcccggggg gcactggatg cgagccccca ggtctgacgt
     1501 ccttgggggt ggcttgagga agaggggaag gtgcgtattt attcagggag gaggaaaagt
     1561 ggtgcaggga cagggagatg gggcgctagg ggttcttagt ctctggggct actaggcagg
     1621 atgaatttga ctgggtcggt aggagctgcg caatgcccct ctgttctccc ctgcctcaca
     1681 gtttccctcg cccctgggct ggggggttgg ggtgggacac ccgtaccgcg gctggctggc
     1741 ggggacaggc tagaggagac agcaagtccc agtccccgga gcagagagaa gtggggccgg
     1801 cccggggcgc tggtggtggc tgtctggaca cgtccttagc gcctgggaac caggacataa
     1861 aagcgcctcc ggagccgccc tgcggcgggg tccctttcat cccacttaaa gtgcttctgc
     1921 ccctagggtt tccggaggga gagccgagat gggatggggg agcctggggg tcccccttgg
     1981 caggggtgtc tctttctggt ttggagggtt gttgctgtaa aaataactcc tttgatgagc
     2041 ttccttatta accctttcag acccagtctg ttggagccat gaaggaagag ggaaagaggg
     2101 ctgccattcc tgacagcctc ccagccaggg ctggcgataa aggaccgaga tagatggagg
     2161 gggcgagtag ggaagtcctc ttctaaaatg agagataggg atttggtggg gtatggaagg
     2221 aactaacccc ttccctctcc acctctgatt cagcccttaa ttcttggtct atgataaata
     2281 aagttcagta gtctcacatt ccccatctat taccctaggt gtgttttcaa ggcagccagc
     2341 ggtagaatcc atgtagttcc caccagttgc cttcccctca gggatggaag gaagagggtt
     2401 tcttgggctg gttgagggca gattgggggt gtctcatcag agggacctcc actggttccc
     2461 actcagagtg gaggcctgca gcctacctga ccatctcttt agctgtcacc aagaaaataa
     2521 accccactgt ctctctagct tggcccttgt ctttcccttg cccctgccat agcatgttca
     2581 ttaggggatt ccttcctccc cctcatctca caggggaagg gagaggaaag agttgttctc
     2641 ccactggaag gggttctgcc ttctgaggtg acatccagga agctgtcccc attcccttct
     2701 cctttagatg ctagaaacac attttgattc tgatcatggg gtgggggaga gaggaaagga
     2761 gggaggggag aagcccagca gaagctgagc caggcagagg ggaaagaagc tgatatgagg
     2821 aagggtctga caggccacag cccttgcagc cggagggctt tcccacactc aagagagggg
     2881 ccttacagtc cctctgacac ccctccccct tcccctcgct ccctttcttc acccggagcc
     2941 ctctgcagag attagctgtg tattgatttt taagttataa gcaaagggta ttttatttaa
     3001 tattaggtta tgtgtgtgca tgttgtgtgt acctgtgtgc atgtatgtgt gtttctctac
     3061 tgagcctggg gtctctagcc agggagaccc catcttattc accatgtcca agatcctggg
     3121 atctgggccc agcatctctt cctcctttgt agatgctgga gcccagccaa ggtctgggag
     3181 ctatatggga agtgggggct gggatctggg tgggaatatg tgtttgtata caaaggggcc
     3241 ctccttaaaa gggacaggat gaccttcccg aggaactcat tggcctgggg tagtttaaga
     3301 agtaatgttc tttctttctt tctcttttcc ctacctcctg ctaacccaac cagagatccc
     3361 cttccttgct gagagggttg ggggcaggag gagatttggc agtgcctgca ggttgcctgg
     3421 ccaggtggag agggggaaag aggaagggca ccgtgggtgt aagatgcctt tctcctccac
     3481 ccatcgaaac cagccacccc ttccctgtgc caccaagaca gccttttcca gtggccatcc
     3541 taaggggaac tcccaaatgg gtgttgctgg tggacacaga tgctcccccc aatggaagcc
     3601 ccaagctctg aggtatgcgg gtagaggctt tggataggtt ttcttctgct cccctctttt
     3661 atagatctag gctgcttggc tgcctgtctt tctaggcagt ccccctagag gaaaaatgta
     3721 ggaatttatt ttttctttaa ctgctgtgaa ctcactttga gggggtagga ggagggagaa
     3781 acagcctgtg ttttttatgc aataaagtca tcaactacat catg
//
