LOCUS       NM_016169               5016 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens SUFU negative regulator of hedgehog signaling (SUFU),
            transcript variant 1, mRNA.
ACCESSION   NM_016169
VERSION     NM_016169.4
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 5016)
  AUTHORS   Siegert,S., Grisold,A., Pal-Handl,K., Lilja,S., Kepa,S.,
            Silvaieh,S., Laccone,F., Wiest,G., Pogledic,I., Schmook,M.T.,
            Boltshauser,E., Schmidt,W.M. and Krenn,M.
  TITLE     Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings
            Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly
            Variable Phenotypes
  JOURNAL   Pediatr Neurol 160, 38-44 (2024)
   PUBMED   39181021
  REMARK    GeneRIF: Developmental, Cognitive, Ocular Motor, and Neuroimaging
            Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and
            Highly Variable Phenotypes.
REFERENCE   2  (bases 1 to 5016)
  AUTHORS   Sola,I.M., Karin-Kujundzic,V., Paic,F., Lijovic,L., Glibo,M.,
            Serman,N., Duic,T., Skrtic,A., Kuna,K., Vranic,S. and Serman,L.
  TITLE     WNT5A, beta-catenin and SUFU expression patterns, and the
            significance of microRNA deregulation in placentas with
            intrauterine growth restriction
  JOURNAL   Mol Med Rep 27 (2) (2023)
   PUBMED   36524356
  REMARK    GeneRIF: WNT5A, betacatenin and SUFU expression patterns, and the
            significance of microRNA deregulation in placentas with
            intrauterine growth restriction.
REFERENCE   3  (bases 1 to 5016)
  AUTHORS   Bardwell,A.J., Wu,B., Sarin,K.Y., Waterman,M.L., Atwood,S.X. and
            Bardwell,L.
  TITLE     ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation
            of GLI1
  JOURNAL   Life Sci Alliance 5 (11), e202101353 (2022)
   PUBMED   35831023
  REMARK    GeneRIF: ERK2 MAP kinase regulates SUFU binding by multisite
            phosphorylation of GLI1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5016)
  AUTHORS   Goos,H., Kinnunen,M., Salokas,K., Tan,Z., Liu,X., Yadav,L.,
            Zhang,Q., Wei,G.H. and Varjosalo,M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5016)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (bases 1 to 5016)
  AUTHORS   Villavicencio,E.H., Walterhouse,D.O. and Iannaccone,P.M.
  TITLE     The sonic hedgehog-patched-gli pathway in human development and
            disease
  JOURNAL   Am J Hum Genet 67 (5), 1047-1054 (2000)
   PUBMED   11001584
  REMARK    Review article
REFERENCE   7  (bases 1 to 5016)
  AUTHORS   Murone,M., Luoh,S.M., Stone,D., Li,W., Gurney,A., Armanini,M.,
            Grey,C., Rosenthal,A. and de Sauvage,F.J.
  TITLE     Gli regulation by the opposing activities of fused and suppressor
            of fused
  JOURNAL   Nat Cell Biol 2 (5), 310-312 (2000)
   PUBMED   10806483
REFERENCE   8  (bases 1 to 5016)
  AUTHORS   Stone,D.M., Murone,M., Luoh,S., Ye,W., Armanini,M.P., Gurney,A.,
            Phillips,H., Brush,J., Goddard,A., de Sauvage,F.J. and Rosenthal,A.
  TITLE     Characterization of the human suppressor of fused, a negative
            regulator of the zinc-finger transcription factor Gli
  JOURNAL   J Cell Sci 112 (Pt 23), 4437-4448 (1999)
   PUBMED   10564661
REFERENCE   9  (bases 1 to 5016)
  AUTHORS   Kogerman,P., Grimm,T., Kogerman,L., Krause,D., Unden,A.B.,
            Sandstedt,B., Toftgard,R. and Zaphiropoulos,P.G.
  TITLE     Mammalian suppressor-of-fused modulates nuclear-cytoplasmic
            shuttling of Gli-1
  JOURNAL   Nat Cell Biol 1 (5), 312-319 (1999)
   PUBMED   10559945
REFERENCE   10 (bases 1 to 5016)
  AUTHORS   Evans,D.G.
  TITLE     Nevoid Basal Cell Carcinoma Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121928.13, AL157386.14 and
            AL391121.29.
            
            On Nov 30, 2019 this sequence version replaced NM_016169.3.
            
            Summary: The Hedgehog signaling pathway plays an important role in
            early human development. The pathway is a signaling cascade that
            plays a role in pattern formation and cellular proliferation during
            development. This gene encodes a negative regulator of the hedgehog
            signaling pathway. Defects in this gene are a cause of
            medulloblastoma. Alternative splicing results in multiple
            transcript variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: Transcript Variant: This variant (1) encodes
            the longer 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 :: AF159447.1, SRR11853562.4312.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369902.8/ ENSP00000358918.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-363               AL121928.13        149338-149700
            364-498             AL121928.13        154535-154669
            499-635             AL157386.14        29856-29992
            636-704             AL157386.14        72468-72536
            705-778             AL391121.29        2001-2074
            779-864             AL391121.29        2986-3071
            865-937             AL391121.29        3343-3415
            938-1091            AL391121.29        6490-6643
            1092-1203           AL391121.29        8783-8894
            1204-1338           AL391121.29        24618-24752
            1339-1477           AL391121.29        26640-26778
            1478-1546           AL391121.29        36525-36593
            1547-5016           AL391121.29        39416-42885
FEATURES             Location/Qualifiers
     source          1..5016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..5016
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /note="SUFU negative regulator of hedgehog signaling"
                     /db_xref="GeneID:51684"
                     /db_xref="HGNC:HGNC:16466"
                     /db_xref="MIM:607035"
     exon            1..363
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..1636
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     suppressor of fused homolog; negative regulator of
                     hedgehog signaling"
                     /codon_start=1
                     /product="suppressor of fused homolog isoform 1"
                     /protein_id="NP_057253.2"
                     /db_xref="CCDS:CCDS7537.1"
                     /db_xref="GeneID:51684"
                     /db_xref="HGNC:HGNC:16466"
                     /db_xref="MIM:607035"
                     /translation="MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRL
                     YPDQPNPLQVTAIVKYWLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDN
                     RVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDH
                     VSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQG
                     ILELLRTVPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWD
                     DLSRPPEDDEDSRSICIGTQPRRLSGKDTEQIRETLRRGLEINSKPVLPPINPQRQNG
                     LAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQESGALIPLCLRGRLLHG
                     RHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDL
                     TSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH"
     exon            364..498
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            499..635
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            636..778
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            779..864
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            865..937
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1091
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1203
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1338
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1477
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1546
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..5016
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4917..4922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /note="hexamer: ATTAAA"
     polyA_site      4935
                     /gene="SUFU"
                     /gene_synonym="BCNS2; JBTS32; PRO1280; SUFUH; SUFUXL"
                     /note="major polyA site"
ORIGIN      
        1 agactcggcg gcggcgacag cctgggcgga cagtgcgccg tgcgcaggcg cggagctaga
       61 cctcgctgca gcccccatcg cctcggggag tctcacccac cgagtccgcc cgctggcccg
      121 tcagtgctct ccccgtcgtt tgccctctcc agttccccca gtgcctgccc tacgcacccc
      181 gatggcggag ctgcggccta gcggcgcccc cggccccacc gcgcccccgg cccctggccc
      241 gactgccccc ccggccttcg cttcgctctt tcccccggga ctgcacgcca tctacggaga
      301 gtgccgccgc ctttaccctg accagccgaa cccgctccag gttaccgcta tcgtcaagta
      361 ctggttgggt ggcccagacc ccttggacta tgttagcatg tacaggaatg tggggagccc
      421 ttctgctaac atccccgagc actggcacta catcagcttc ggcctgagtg atctctatgg
      481 tgacaacaga gtccatgagt ttacaggaac agatggacct agtggttttg gctttgagtt
      541 gacctttcgt ctgaagagag aaactgggga gtctgcccca ccaacatggc ccgcagagtt
      601 aatgcagggc ttggcacgat acgtgttcca gtcagagaac accttctgca gtggggacca
      661 tgtgtcctgg cacagccctt tggataacag tgagtcaaga attcagcaca tgctgctgac
      721 agaggaccca cagatgcagc ccgtgcagac accctttggg gtagttacct tcctccagat
      781 cgttggtgtc tgcactgaag agctacactc agcccagcag tggaacgggc agggcatcct
      841 ggagctgctg cggacagtgc ctattgctgg cggcccctgg ctgataactg acatgcggag
      901 gggagagacc atatttgaga tcgatccaca cctgcaagag agagttgaca aaggcatcga
      961 gacagatggc tccaacctga gtggtgtcag tgccaagtgt gcctgggatg acctgagccg
     1021 gccccccgag gatgacgagg acagccggag catctgcatc ggcacacagc cccggcgact
     1081 ctctggcaaa gacacagagc agatccggga gaccctgagg agaggactcg agatcaacag
     1141 caaacctgtc cttccaccaa tcaaccctca gcggcagaat ggcctcgccc acgaccgggc
     1201 cccgagccgc aaagacagcc tggaaagtga cagctccacg gccatcattc cccatgagct
     1261 gattcgcacg cggcagcttg agagcgtaca tctgaaattc aaccaggagt ccggagccct
     1321 cattcctctc tgcctaaggg gcaggctcct gcatggacgg cactttacat ataaaagtat
     1381 cacaggtgac atggccatca cgtttgtctc cacgggagtg gaaggcgcct ttgccactga
     1441 ggagcatcct tacgcggctc atggaccctg gttacaaatt ctgttgaccg aagagtttgt
     1501 agagaaaatg ttggaggatt tagaagattt gacttctcca gaggaattca aacttcccaa
     1561 agagtacagc tggcctgaaa agaagctgaa ggtctccatc ctgcctgacg tggtgttcga
     1621 cagtccgcta cactagcctg ggctgggccc tgcagtggcc agcagggagc ccagctgctc
     1681 cccagtgact tccagtgtaa cagttgtgtc aacgagatct ccacaaataa aaggacaagt
     1741 gtgaggaaga ctgcgcagtg ccaccccgca gcccagtggg gtgccatgca caggccacag
     1801 gccctccacc tcacctccag ctcaggggcc gcaccccgcc gctggctaag ccttgtgacc
     1861 catcaggcca gtgagtgggc aaatgcggac cctccctgcc tgcagcctgc acagattctg
     1921 gtttgaggtt tgactctgga ccctggctgt gcccctaggt ggagacagcc ctctttctca
     1981 cctaccccct gccgcacagc ccagcaggag ggaggcggac agccagatgc agagcgagtg
     2041 gatgcacttc ccagctcatc tctggaagcc tttgctactc aagctcctct ggccgcggaa
     2101 caattcctct gatcatgttt ggttttcttc ttccttattt tattttgtag aaaccgggtg
     2161 gtattttatt gctctgcaaa gatgtccaga agccatgtat ataatgtttt ttaaacagaa
     2221 cttcattccc cgttgaactt tcgcattctc tgacagaggc ctagggctgt atctctccct
     2281 gggctgccac cagagaaggt gcttggtgtt cgcctgccag cccagagccc tggaggagcc
     2341 ggctgcacag agaggctttt cttcccagct gggcctggtg gagcccgggg cagggggaga
     2401 gtagagacac tcccttgtgc agctttgagc ctagtttagc tggggccagg gaggggtgct
     2461 actgttttcc aagtgaatgg gtctcaaaga cttggtgacc ccagcctcat cttctaggcc
     2521 ttttccaccc aaccaggcct acctgggaga gggtgaggtt cagcacatca cacaccatcc
     2581 ccactgtcat tcagggcctg ggtctccagc tctgtaacca gtcctgtccc atttcctcag
     2641 tccctgggcc tcccagcctt caggctgtag ggctgcctta ctaaaattga aaaatccacc
     2701 tcttaacatc tctttcactt tggttttgct aacactgctc tctgctgccc tcccatcctc
     2761 cctgtatcca ttcatgccct atctttcatt ctccactcct aatccctctc ctttctggca
     2821 tcctggcctc tcgtggtcct cagcccctca cccccagtac tgcagatctc acagtttgcc
     2881 ttccagaagc cagcctatct ctagcccatg gttttggagt tcctctcggg ttatctccca
     2941 cgcctgacct ggaaccagca agcccctttc ctgccttctt acccccaact ctagggatgg
     3001 gactgttaca atacttcaag atcactcttt acacctcttc aaagcaaagt catgacaatg
     3061 cagggctcct cattgctccc atctgcctct gctgcacaca caggcaccag cagggatgcc
     3121 acaggagtgc ccacagggtg caggactcca ctgatgagag atccagccaa agagctgccc
     3181 ccaggggtat gagggcacca gctgggttct ccagggagca ggagttggac ctccatggag
     3241 ccactaggcc tggcctcctc tacacatccc cagggctatc tggttaattc catcaagctc
     3301 agagttaaaa ggcatatcag cctggagtat ttgggagaga ctggctgcag atccccgcca
     3361 gccaagatgc aagccactcg ggacctgatg tcggcagctg tgcctctact gccctgagga
     3421 cttaccagag ggagccctac tggccttccc ccaccacagc agccctgcct gtgaagctct
     3481 tgtttctgac atttcacagg cagagaggtg ccatcagttc gcctccattc cttgccacca
     3541 tgaccagcct ctccctgaac tctctcttgc tcgggacctg cctgagggct ccctgctgca
     3601 gttcgccgta cttccatctg ctgggtgcct ccatcgttgg ttgggtgggg atggggcatt
     3661 ttctgagcta agctttgtca ttagtttgtg aagcacctgg tcagcaacct gccccagacc
     3721 tggagggtct ttgtggactg aaggtagaca ccagccagca tggtggccct gttctggggg
     3781 agcagggtaa ggcaggagga agtgggtgag ctccgagatg atgagcacat gaagcctgtg
     3841 gccccttcgt acctgcaata tgtcaggagc ctcacgctca cccaagatcc tgcaggggcc
     3901 aggctccatc tcactggctc tgagggcagg acagggtatc acacatttct caccaggcct
     3961 cctttcctat gggcattggt gcctcccaga ggtttcttgg gctgctggct ggtgagagag
     4021 gacccttaaa gaagatcaag ccaagctgac cttggaccct gtccagcaca gcttctggca
     4081 caggatgctt ggtgaatgta ccctttcttt ccctccctgc agctctgagg gagcccctga
     4141 ccttgtagtg ggtggaggag gtaaggggcc tccctcccta aatctgcctc ttctgcaagc
     4201 tacttggaga cttgcctagt tgtacccacc cctccaggtc cctggtgcta gagcttctga
     4261 gaagggcctt tccctttcct ctttgcctgc tatataaggc aggctcctgt ggctctgctg
     4321 gctcagtgtg ggctgcagga ggactgcaga ctcagctgca attctgaggg gggtttggga
     4381 ggcttgtgcg aggtctcagg cctgtgtggg gagctggtgc ctcttcctgc ccgtatcttt
     4441 ctcttccaag ggcagtgctc caaggcaggg actggagaag ccaaggggag agtctaaaag
     4501 ggctagagca tttttaaaaa tagacacagg gtcttgggac tggggtttcg gattgagttg
     4561 caagcaggga gaaaacctga aggtcggtgc ccctatgggg ctgaccagta gagaatttcc
     4621 tttactgtat ttttgtgtct ggtcttccct ttctggcttc taggacatcc atgccaggtg
     4681 aggtgcctgg gtccctgtta caagtcagga gccctgtagg gagacccctc cttttgtaca
     4741 agtacctgaa tgctgcgaca agcagatttt tgtaaaattt tatattagtt tttaatgtca
     4801 gtggcgactc ggttcctggg gctgcagcca gcctgggact tttgtaagaa tttttgggtg
     4861 actcacttag atgtcgtttc cttcttgccc cctcttcctc tctgtaatct aagtgcatta
     4921 aacatctttg cagaagtgcc tgggttgtgt gctcatttct ggctgcctga agtagtggag
     4981 ccggaagccc ggggccctgg cagagggagt gggttg
//
