LOCUS       NM_005269               3972 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1,
            mRNA.
ACCESSION   NM_005269
VERSION     NM_005269.3
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 3972)
  AUTHORS   Giammona,A., De Vellis,C., Crivaro,E., Maresca,L., Amoriello,R.,
            Ricci,F., Anichini,G., Pietrobono,S., Pease,D.R.,
            Fernandez-Zapico,M.E., Ballerini,C. and Stecca,B.
  TITLE     Tumor-derived GLI1 promotes remodeling of the immune tumor
            microenvironment in melanoma
  JOURNAL   J Exp Clin Cancer Res 43 (1), 214 (2024)
   PUBMED   39090759
  REMARK    GeneRIF: Tumor-derived GLI1 promotes remodeling of the immune tumor
            microenvironment in melanoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3972)
  AUTHORS   Giner,F., Medina-Ceballos,E., Lopez-Reig,R., Machado,I.,
            Lopez-Guerrero,J.A., Navarro,S., Rubio-Martinez,L.A., Espino,M.,
            Mayordomo-Aranda,E. and Llombart-Bosch,A.
  TITLE     The Combined Immunohistochemical Expression of GLI1 and BCOR in
            Synovial Sarcomas for the Identification of Three Risk Groups and
            Their Prognostic Outcomes: A Study of 52 Patients
  JOURNAL   Int J Mol Sci 25 (14), 7615 (2024)
   PUBMED   39062853
  REMARK    GeneRIF: The Combined Immunohistochemical Expression of GLI1 and
            BCOR in Synovial Sarcomas for the Identification of Three Risk
            Groups and Their Prognostic Outcomes: A Study of 52 Patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3972)
  AUTHORS   Liu,Y., Liu,Y., Chen,P., Chen,G. and Chen,X.
  TITLE     GLI1 polymorphisms influence remission rate and prognosis of young
            de novo acute myeloid leukemia patients treated with
            cytarabine-based chemotherapy
  JOURNAL   Ann Hematol 103 (6), 1967-1977 (2024)
   PUBMED   38676765
  REMARK    GeneRIF: GLI1 polymorphisms influence remission rate and prognosis
            of young de novo acute myeloid leukemia patients treated with
            cytarabine-based chemotherapy.
REFERENCE   4  (bases 1 to 3972)
  AUTHORS   Sharma,A.E., Dickson,M., Singer,S., Hameed,M.R. and Agaram,N.P.
  TITLE     GLI1 Coamplification in Well-Differentiated/Dedifferentiated
            Liposarcomas: Clinicopathologic and Molecular Analysis of 92 Cases
  JOURNAL   Mod Pathol 37 (6), 100494 (2024)
   PUBMED   38621503
  REMARK    GeneRIF: GLI1 Coamplification in
            Well-Differentiated/Dedifferentiated Liposarcomas:
            Clinicopathologic and Molecular Analysis of 92 Cases.
REFERENCE   5  (bases 1 to 3972)
  AUTHORS   Zeng,L.H., Tang,C., Yao,M., He,Q., Qv,M., Ren,Q., Xu,Y., Shen,T.,
            Gu,W., Xu,C., Zou,C., Ji,X., Wu,X. and Wang,J.
  TITLE     Phosphorylation of human glioma-associated oncogene 1 on Ser937
            regulates Sonic Hedgehog signaling in medulloblastoma
  JOURNAL   Nat Commun 15 (1), 987 (2024)
   PUBMED   38307877
  REMARK    GeneRIF: Phosphorylation of human glioma-associated oncogene 1 on
            Ser937 regulates Sonic Hedgehog signaling in medulloblastoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3972)
  AUTHORS   Da Silva,J.D., Tkachenko,N. and Soares,A.R.
  TITLE     Ellis-van Creveld Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37903214
REFERENCE   7  (bases 1 to 3972)
  AUTHORS   Chung,R.Y. and Seizinger,B.R.
  TITLE     Molecular genetics of neurological tumours
  JOURNAL   J Med Genet 29 (6), 361-367 (1992)
   PUBMED   1320124
  REMARK    Review article
REFERENCE   8  (bases 1 to 3972)
  AUTHORS   Arheden,K., Ronne,M., Mandahl,N., Heim,S., Kinzler,K.W.,
            Vogelstein,B. and Mitelman,F.
  TITLE     In situ hybridization localizes the human putative oncogene GLI to
            chromosome subbands 12q13.3-14.1
  JOURNAL   Hum Genet 82 (1), 1-2 (1989)
   PUBMED   2497059
REFERENCE   9  (bases 1 to 3972)
  AUTHORS   Ruppert,J.M., Kinzler,K.W., Wong,A.J., Bigner,S.H., Kao,F.T.,
            Law,M.L., Seuanez,H.N., O'Brien,S.J. and Vogelstein,B.
  TITLE     The GLI-Kruppel family of human genes
  JOURNAL   Mol Cell Biol 8 (8), 3104-3113 (1988)
   PUBMED   2850480
REFERENCE   10 (bases 1 to 3972)
  AUTHORS   Kinzler,K.W., Ruppert,J.M., Bigner,S.H. and Vogelstein,B.
  TITLE     The GLI gene is a member of the Kruppel family of zinc finger
            proteins
  JOURNAL   Nature 332 (6162), 371-374 (1988)
   PUBMED   2832761
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022506.38, X07384.1 and
            BC013000.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005269.2.
            
            Summary: This gene encodes a member of the Kruppel family of zinc
            finger proteins. The encoded transcription factor is activated by
            the sonic hedgehog signal transduction cascade and regulates stem
            cell proliferation. The activity and nuclear localization of this
            protein is negatively regulated by p53 in an inhibitory loop.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2009].
            
            Transcript Variant: This variant (1) encodes the full length
            protein (isoform 1).
            
            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 :: BC013000.2, X07384.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228682.7/ ENSP00000228682.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-366               AC022506.38        147936-148301       c
            367-3848            X07384.1           1-3482
            3849-3849           AC022506.38        135941-135941       c
            3850-3972           BC013000.2         3444-3566
FEATURES             Location/Qualifiers
     source          1..3972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..3972
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /note="GLI family zinc finger 1"
                     /db_xref="GeneID:2735"
                     /db_xref="HGNC:HGNC:4317"
                     /db_xref="MIM:165220"
     exon            1..417
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            418..544
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             445..3765
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glioma-associated oncogene homolog 1 (zinc finger
                     protein); glioma-associated oncogene 1; GLI-Kruppel family
                     member GLI1; oncogene GLI"
                     /codon_start=1
                     /product="zinc finger protein GLI1 isoform 1"
                     /protein_id="NP_005260.1"
                     /db_xref="CCDS:CCDS8940.1"
                     /db_xref="GeneID:2735"
                     /db_xref="HGNC:HGNC:4317"
                     /db_xref="MIM:165220"
                     /translation="MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQA
                     NLMSGPHSYGPARETNSCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTS
                     PSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSA
                     RGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGR
                     EDLEREEKREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCS
                     RELRPFKAQYMLVVHMRRHTGEKPHKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCE
                     HEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAH
                     VTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSS
                     DHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQ
                     LRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFP
                     PGSPPENGASSLPGLMPAQHYLLRARYASARGGGTSPTAASSLDRIGGLPMPPWRSRA
                     EYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQNFDPYLPT
                     SVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAA
                     EPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGG
                     TYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEGPPHPQPLFSHYPQPSP
                     PQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCNYVQSQQELLWEGGG
                     REDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHE
                     NFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPE
                     GQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNM
                     SVLLRSLPGETEFLNSSA"
     exon            545..637
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            638..833
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            834..978
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1068
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1206
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1356
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1521
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1752
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1753..2020
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..3972
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3948..3953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /note="hexamer: AATAAA"
     polyA_site      3972
                     /gene="GLI1"
                     /gene_synonym="GLI; PAPA8; PPD1"
                     /note="major polyA site"
ORIGIN      
        1 gtaagcagta tagggtccct caagggaggg ggaggatcct gggggtcctg ggggtgcaat
       61 aagcccggca ccccttctct tgcttccagc taccccgcct catcctccag aacggcaaga
      121 gggagggaaa tagaagggag gtgaggggcg agcgggaaga gcggcggcgc gccagcggct
      181 ggagagagaa aaagtttttg caaaagggaa aaaaaaagtt tgcgcttctc gcgggtggtc
      241 cgggcttgcg gcccggcggg ctgggccggc gggagggctg ggggccaggt tgggggggtg
      301 ggggtggcat cgaggctgcg ctgccgtggc cctctccgcc ccccctcccc accgcacacc
      361 ccccagccca gactccagcc ctggaccgcg catcccgagc ccagcgccca gacagagtgt
      421 ccccacaccc tcctctgaga cgccatgttc aactcgatga ccccaccacc aatcagtagc
      481 tatggcgagc cctgctgtct ccggcccctc cccagtcagg gggcccccag tgtggggaca
      541 gaaggactgt ctggcccgcc cttctgccac caagctaacc tcatgtccgg cccccacagt
      601 tatgggccag ccagagagac caacagctgc accgagggcc cactcttttc ttctccccgg
      661 agtgcagtca agttgaccaa gaagcgggca ctgtccatct cacctctgtc ggatgccagc
      721 ctggacctgc agacggttat ccgcacctca cccagctccc tcgtagcttt catcaactcg
      781 cgatgcacat ctccaggagg ctcctacggt catctctcca ttggcaccat gagcccatct
      841 ctgggattcc cagcccagat gaatcaccaa aaagggccct cgccttcctt tggggtccag
      901 ccttgtggtc cccatgactc tgcccggggt gggatgatcc cacatcctca gtcccgggga
      961 cccttcccaa cttgccagct gaagtctgag ctggacatgc tggttggcaa gtgccgggag
     1021 gaacccttgg aaggtgatat gtccagcccc aactccacag gcatacagga tcccctgttg
     1081 gggatgctgg atgggcggga ggacctcgag agagaggaga agcgtgagcc tgaatctgtg
     1141 tatgaaactg actgccgttg ggatggctgc agccaggaat ttgactccca agagcagctg
     1201 gtgcaccaca tcaacagcga gcacatccac ggggagcgga aggagttcgt gtgccactgg
     1261 gggggctgct ccagggagct gaggcccttc aaagcccagt acatgctggt ggttcacatg
     1321 cgcagacaca ctggcgagaa gccacacaag tgcacgtttg aagggtgccg gaagtcatac
     1381 tcacgcctcg aaaacctgaa gacgcacctg cggtcacaca cgggtgagaa gccatacatg
     1441 tgtgagcacg agggctgcag taaagccttc agcaatgcca gtgaccgagc caagcaccag
     1501 aatcggaccc attccaatga gaagccgtat gtatgtaagc tccctggctg caccaaacgc
     1561 tatacagatc ctagctcgct gcgaaaacat gtcaagacag tgcatggtcc tgacgcccat
     1621 gtgaccaaac ggcaccgtgg ggatggcccc ctgcctcggg caccatccat ttctacagtg
     1681 gagcccaaga gggagcggga aggaggtccc atcagggagg aaagcagact gactgtgcca
     1741 gagggtgcca tgaagccaca gccaagccct ggggcccagt catcctgcag cagtgaccac
     1801 tccccggcag ggagtgcagc caatacagac agtggtgtgg aaatgactgg caatgcaggg
     1861 ggcagcactg aagacctctc cagcttggac gagggacctt gcattgctgg cactggtctg
     1921 tccactcttc gccgccttga gaacctcagg ctggaccagc tacatcaact ccggccaata
     1981 gggacccggg gtctcaaact gcccagcttg tcccacaccg gtaccactgt gtcccgccgc
     2041 gtgggccccc cagtctctct tgaacgccgc agcagcagct ccagcagcat cagctctgcc
     2101 tatactgtca gccgccgctc ctccctggcc tctcctttcc cccctggctc cccaccagag
     2161 aatggagcat cctccctgcc tggccttatg cctgcccagc actacctgct tcgggcaaga
     2221 tatgcttcag ccagaggggg tggtacttcg cccactgcag catccagcct ggatcggata
     2281 ggtggtcttc ccatgcctcc ttggagaagc cgagccgagt atccaggata caaccccaat
     2341 gcaggggtca cccggagggc cagtgaccca gcccaggctg ctgaccgtcc tgctccagct
     2401 agagtccaga ggttcaagag cctgggctgt gtccataccc cacccactgt ggcaggggga
     2461 ggacagaact ttgatcctta cctcccaacc tctgtctact caccacagcc ccccagcatc
     2521 actgagaatg ctgccatgga tgctagaggg ctacaggaag agccagaagt tgggacctcc
     2581 atggtgggca gtggtctgaa cccctatatg gacttcccac ctactgatac tctgggatat
     2641 gggggacctg aaggggcagc agctgagcct tatggagcga ggggtccagg ctctctgcct
     2701 cttgggcctg gtccacccac caactatggc cccaacccct gtccccagca ggcctcatat
     2761 cctgacccca cccaagaaac atggggtgag ttcccttccc actctgggct gtacccaggc
     2821 cccaaggctc taggtggaac ctacagccag tgtcctcgac ttgaacatta tggacaagtg
     2881 caagtcaagc cagaacaggg gtgcccagtg gggtctgact ccacaggact ggcaccctgc
     2941 ctcaatgccc accccagtga ggggccccca catccacagc ctctcttttc ccattacccc
     3001 cagccctctc ctccccaata tctccagtca ggcccctata cccagccacc ccctgattat
     3061 cttccttcag aacccaggcc ttgcctggac tttgattccc ccacccattc cacagggcag
     3121 ctcaaggctc agcttgtgtg taattatgtt caatctcaac aggagctact gtgggagggt
     3181 gggggcaggg aagatgcccc cgcccaggaa ccttcctacc agagtcccaa gtttctgggg
     3241 ggttcccagg ttagcccaag ccgtgctaaa gctccagtga acacatatgg acctggcttt
     3301 ggacccaact tgcccaatca caagtcaggt tcctatccca ccccttcacc atgccatgaa
     3361 aattttgtag tgggggcaaa tagggcttca catagggcag cagcaccacc tcgacttctg
     3421 cccccattgc ccacttgcta tgggcctctc aaagtgggag gcacaaaccc cagctgtggt
     3481 catcctgagg tgggcaggct aggagggggt cctgccttgt accctcctcc cgaaggacag
     3541 gtatgtaacc ccctggactc tcttgatctt gacaacactc agctggactt tgtggctatt
     3601 ctggatgagc cccaggggct gagtcctcct ccttcccatg atcagcgggg cagctctgga
     3661 cataccccac ctccctctgg gccccccaac atggctgtgg gcaacatgag tgtcttactg
     3721 agatccctac ctggggaaac agaattcctc aactctagtg cctaaagagt agggaatctc
     3781 atccatcaca gatcgcattt cctaaggggt ttctatcctt ccagaaaaat tgggggagct
     3841 gcagtcccat gcacaagatg ccccagggat gggaggtatg ggctgggggc tatgtatagt
     3901 ctgtatacgt tttgaggaga aatttgataa tgacactgtt tcctgataat aaaggaactg
     3961 catcagaaaa aa
//
