LOCUS       NM_001173467            3123 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens Sp7 transcription factor (SP7), transcript variant 1,
            mRNA.
ACCESSION   NM_001173467
VERSION     NM_001173467.3
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 3123)
  AUTHORS   Komori,T.
  TITLE     Regulation of Skeletal Development and Maintenance by Runx2 and Sp7
  JOURNAL   Int J Mol Sci 25 (18), 10102 (2024)
   PUBMED   39337587
  REMARK    GeneRIF: Regulation of Skeletal Development and Maintenance by
            Runx2 and Sp7.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3123)
  AUTHORS   Sun,X., Pu,Y., Dong,S. and Dong,Q.
  TITLE     LncRNA urothelial cancer associated 1 promotes the osteogenic
            differentiation of human periodontal ligament stem cells by
            regulating the miR-96-5p/Osx axis
  JOURNAL   Arch Oral Biol 158, 105855 (2024)
   PUBMED   38070324
  REMARK    GeneRIF: LncRNA urothelial cancer associated 1 promotes the
            osteogenic differentiation of human periodontal ligament stem cells
            by regulating the miR-96-5p/Osx axis.
REFERENCE   3  (bases 1 to 3123)
  AUTHORS   Wang,J.S., Tokavanich,N. and Wein,M.N.
  TITLE     SP7: from Bone Development to Skeletal Disease
  JOURNAL   Curr Osteoporos Rep 21 (2), 241-252 (2023)
   PUBMED   36881265
  REMARK    GeneRIF: SP7: from Bone Development to Skeletal Disease.
            Review article
REFERENCE   4  (bases 1 to 3123)
  AUTHORS   Gopinathan,G., Luan,X. and Diekwisch,T.G.H.
  TITLE     Epigenetic Repression of RUNX2 and OSX Promoters Controls the
            Nonmineralized State of the Periodontal Ligament
  JOURNAL   Genes (Basel) 14 (1), 201 (2023)
   PUBMED   36672941
  REMARK    GeneRIF: Epigenetic Repression of RUNX2 and OSX Promoters Controls
            the Nonmineralized State of the Periodontal Ligament.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3123)
  AUTHORS   Hojo,H. and Ohba,S.
  TITLE     Sp7 Action in the Skeleton: Its Mode of Action, Functions, and
            Relevance to Skeletal Diseases
  JOURNAL   Int J Mol Sci 23 (10), 5647 (2022)
   PUBMED   35628456
  REMARK    GeneRIF: Sp7 Action in the Skeleton: Its Mode of Action, Functions,
            and Relevance to Skeletal Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3123)
  AUTHORS   Morsczeck,C.
  TITLE     Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2
            in dental follicle cells during osteogenic differentiation in vitro
  JOURNAL   Calcif Tissue Int 78 (2), 98-102 (2006)
   PUBMED   16467978
  REMARK    GeneRIF: Gene expression of osterix was not detected in dental
            follicle cells during osteogenic differentiation.
REFERENCE   7  (bases 1 to 3123)
  AUTHORS   Gao,Y., Jheon,A., Nourkeyhani,H., Kobayashi,H. and Ganss,B.
  TITLE     Molecular cloning, structure, expression, and chromosomal
            localization of the human Osterix (SP7) gene
  JOURNAL   Gene 341, 101-110 (2004)
   PUBMED   15474293
  REMARK    GeneRIF: The identification and initial characterization of the SP7
            gene will facilitate the study of the molecular regulation of
            osteoblast differentiation in humans.
REFERENCE   8  (bases 1 to 3123)
  AUTHORS   Milona,M.A., Gough,J.E. and Edgar,A.J.
  TITLE     Expression of alternatively spliced isoforms of human Sp7 in
            osteoblast-like cells
  JOURNAL   BMC Genomics 4, 43 (2003)
   PUBMED   14604442
  REMARK    GeneRIF: Sp7 expression in humans is largely confined to
            osteoblasts and chondrocytes, both of which differentiate from the
            mesenchymal lineage. Of the two protein isoforms, the short isoform
            is most abundant.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3123)
  AUTHORS   Gronthos,S., Chen,S., Wang,C.Y., Robey,P.G. and Shi,S.
  TITLE     Telomerase accelerates osteogenesis of bone marrow stromal stem
            cells by upregulation of CBFA1, osterix, and osteocalcin
  JOURNAL   J Bone Miner Res 18 (4), 716-722 (2003)
   PUBMED   12674332
  REMARK    GeneRIF: Telomerase accelerates osteogenesis of bone marrow stromal
            stem cells by upregulation of CBFA1, osterix, and osteocalcin.
REFERENCE   10 (bases 1 to 3123)
  AUTHORS   Nakashima,K., Zhou,X., Kunkel,G., Zhang,Z., Deng,J.M.,
            Behringer,R.R. and de Crombrugghe,B.
  TITLE     The novel zinc finger-containing transcription factor osterix is
            required for osteoblast differentiation and bone formation
  JOURNAL   Cell 108 (1), 17-29 (2002)
   PUBMED   11792318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK128520.1 and AF477981.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001173467.2.
            
            Summary: This gene encodes a member of the Sp subfamily of Sp/XKLF
            transcription factors. Sp family proteins are sequence-specific
            DNA-binding proteins characterized by an amino-terminal
            trans-activation domain and three carboxy-terminal zinc finger
            motifs. This protein is a bone specific transcription factor and is
            required for osteoblast differentiation and bone
            formation.[provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 2 encode the same isoform.
            
            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 :: AK128520.1, CN287220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145240, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000536324.4/ ENSP00000443827.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1278              AK128520.1         29-1306
            1279-3123           AF477981.1         1130-2974
FEATURES             Location/Qualifiers
     source          1..3123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..3123
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /note="Sp7 transcription factor"
                     /db_xref="GeneID:121340"
                     /db_xref="HGNC:HGNC:17321"
                     /db_xref="MIM:606633"
     exon            1..209
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /inference="alignment:Splign:2.1.0"
     exon            210..277
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /inference="alignment:Splign:2.1.0"
     CDS             257..1552
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /note="isoform a is encoded by transcript variant 1; zinc
                     finger protein osterix"
                     /codon_start=1
                     /product="transcription factor Sp7 isoform a"
                     /protein_id="NP_001166938.1"
                     /db_xref="CCDS:CCDS44897.1"
                     /db_xref="GeneID:121340"
                     /db_xref="HGNC:HGNC:17321"
                     /db_xref="MIM:606633"
                     /translation="MASSLLEEEVHYGSSPLAMLTAACSKFGGSSPLRDSTTLGKAGT
                     KKPYSVGSDLSASKTMGDAYPAPFTSTNGLLSPAGSPPAPTSGYANDYPPFSHSFPGP
                     TGTQDPGLLVPKGHSSSDCLPSVYTSLDMTHPYGSWYKAGIHAGISPGPGNTPTPWWD
                     MHPGGNWLGGGQGQGDGLQGTLPTGPAQPPLNPQLPTYPSDFAPLNPAPYPAPHLLQP
                     GPQHVLPQDVYKPKAVGNSGQLEGSGGAKPPRGASTGGSGGYGGSGAGRSSCDCPNCQ
                     ELERLGAAAAGLRKKPIHSCHIPGCGKVYGKASHLKAHLRWHTGERPFVCNWLFCGKR
                     FTRSDELERHVRTHTREKKFTCLLCSKRFTRSDHLSKHQRTHGEPGPGPPPSGPKELG
                     EGRSTGEEEASQTPRPSASPATPEKAPGGSPEQSNLLEI"
     exon            278..3123
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3104..3109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /note="hexamer: AATAAA"
     polyA_site      3123
                     /gene="SP7"
                     /gene_synonym="OI11; OI12; osterix; OSX"
                     /note="major polyA site"
ORIGIN      
        1 agtagcagaa gcagcagccg ccgagcagca gcaaggactc tggagtcaga gtaggactgt
       61 aggaccggag cctgagtgga acaggagtgg agctggcctg ggagagagcg gatccctccc
      121 agcaccctca ggccacccgt tgcctgcact ctccctgcca gacctccaga gaggagagac
      181 tcgggacagc cagccccagg ttcccccagc tctctccatc tgcctggctc cttgggaccc
      241 gttccccagc ctcaggatgg cgtcctccct gcttgaggag gaagttcact atggctccag
      301 tcccctggcc atgctgacgg cagcgtgcag caaatttggt ggctctagcc ctctgcggga
      361 ctcaacaact ctgggcaaag caggcacaaa gaagccgtac tctgtgggca gtgacctttc
      421 agcctccaaa accatggggg atgcttatcc agcccccttt acaagcacta atgggctcct
      481 ttcacctgca ggcagtcctc cagcacccac ctcaggctat gctaatgatt accctccctt
      541 ttcccactca ttccctgggc ccacaggcac ccaggaccct gggctactag tgcccaaggg
      601 gcacagctct tctgactgtc tgcccagtgt ctacacctct ctggacatga cacaccccta
      661 tggctcctgg tacaaggcag gcatccatgc aggcatttca ccaggcccag gcaacactcc
      721 tactccatgg tgggatatgc accctggagg caactggcta ggtggtgggc agggccaggg
      781 tgatgggctg caagggacac tgcccacagg tccagctcag cctccactga acccccagct
      841 gcccacctac ccatctgact ttgctcccct taatccagcc ccctacccag ctccccacct
      901 cttgcaacca gggccccagc atgtcttgcc ccaagatgtc tataaaccca aggcagtggg
      961 aaatagtggg cagctagaag ggagtggtgg agccaaaccc ccacggggtg caagcactgg
     1021 gggtagtggt ggatatgggg gcagtggggc agggcgctcc tcctgcgact gccctaattg
     1081 ccaggagcta gagcggctgg gagcagcagc ggctgggctg cggaagaagc ccatccacag
     1141 ctgccacatc cctggctgcg gcaaggtgta tggcaaggct tcgcacctga aggcccactt
     1201 gcgctggcac acaggcgaga ggcccttcgt ctgcaactgg ctcttctgcg gcaagaggtt
     1261 cactcgttcg gatgagctgg agcgtcatgt gcgcactcac acccgggaga agaagttcac
     1321 ctgcctgctc tgctccaagc gctttacccg aagcgaccac ctgagcaaac accagcgcac
     1381 ccatggagaa ccaggcccgg gtccccctcc cagtggcccc aaggagctgg gggagggccg
     1441 cagcacgggg gaagaggagg ccagtcagac gccccgacct tctgcctcgc cagcaacccc
     1501 agagaaagcc cctggaggca gccctgagca gagcaacttg ctggagatct gagccgggtg
     1561 gaaggtctcc caccccaggg ctgccctgac agtctctctt ggctctctag accactgctt
     1621 gccaatcact ctctttaccc catgcatgcc atccttcggg gctctctccc tctgtctccc
     1681 tcctggccat tctgggcttg ggtatctcct tgcatgcctc ctcagctcac cttctctctt
     1741 caccatgaga ctggctttcc acaaactctc atctcaggcc ctccccttgt gcctgatacc
     1801 tgcactccgg cttcctagac tctggccctg ccacaccaac acactttcta tttgggctcc
     1861 caacactatt tctccatctc actccttgac atgtacccct ttctgcttct caagcttatt
     1921 tcctgctgtc cctcagcctc caggcttcag tcttcccaac ttcttacacc attgctttcc
     1981 attctccaga actctttttt cctttttaca aacacaatga taatgataat ttattgcccc
     2041 ctggtggcct cttcatcagg ggtattgggg ttagtgacct ggccagaggg tgccaagagg
     2101 ggggcagacc agtggggatc tgatcccaaa gatggggtga ccccagggtc agggaggctg
     2161 cccccaggcc tgtatattta acccctatgt accaggagta atgaatagta ataattctat
     2221 ttatgtaagt tatgatgacg ggtcaggtag agtgagctgg ggagggaagt ggatccattt
     2281 ctgctaagga aattctagtc aaatgcatct ctgtatagac aaaatgttag tggagaagat
     2341 cttgttaata gaatgtctat catcagaatc tcagttgata gggtttctct tgtaatgaag
     2401 tctctacaaa ttgggttagc tacatctctg ctaaacagtt gatggggtat ctcttgatta
     2461 gggggatccc taatatcccc agccccagcc agaagctgtg aaacctcaag tcctatggag
     2521 gggagaagga ctggaatgta ccccatctcc cttgactgca gagcaggttc ctccactgcc
     2581 ccacccctta gacaccatga ccccatcagg ttaatcccct gttgccatgg ttatggagag
     2641 cttgcagctg ccatcttaga tgtgctcttt ggggaagccc atctaacagg aggacattgg
     2701 tttgggggtg cacctcctga agaatgggtg gggaaggctt tctctaggat cagattcaaa
     2761 taagtatgta ttgagtgcct actctgtgca aggcactatg ctagatctgg tgcctagaag
     2821 ccctgagaaa gaacttaaag agctaggagg acagaggccc ccaagctgat ctggtggtgc
     2881 atccacgcac ccccaccctg ggactttgga tgctcccatc tccacctcca gtgactttta
     2941 aagccgcttc gtgcctttcc tgtaacgttg gatcctcctt ttctgtcccc tgctgtctca
     3001 aggccccaag ttaaagggtt aaagccgctg gagcttgggg agagaacatt gtggaatgga
     3061 agggatcatg ccctttgtgg agtctttttt ttttaattta ataaataaaa gttggatttg
     3121 aaa
//
