LOCUS       NM_001048166            5019 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens STIL centriolar assembly protein (STIL), transcript
            variant 1, mRNA.
ACCESSION   NM_001048166
VERSION     NM_001048166.1
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 5019)
  AUTHORS   Shamir,M., Martin,F.J.O., Woolfson,D.N. and Friedler,A.
  TITLE     Molecular Mechanism of STIL Coiled-Coil Domain Oligomerization
  JOURNAL   Int J Mol Sci 24 (19), 14616 (2023)
   PUBMED   37834064
  REMARK    GeneRIF: Molecular Mechanism of STIL Coiled-Coil Domain
            Oligomerization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5019)
  AUTHORS   Li,J., Qi,Y., Li,B., Liu,Y., Yang,K., Zhang,Z., Zhu,J. and Du,E.
  TITLE     STIL/AURKA axis promotes cell proliferation by influencing primary
            cilia formation in bladder cancer
  JOURNAL   J Transl Med 21 (1), 281 (2023)
   PUBMED   37101292
  REMARK    GeneRIF: STIL/AURKA axis promotes cell proliferation by influencing
            primary cilia formation in bladder cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5019)
  AUTHORS   Kumar,A., Girimaji,S.C., Duvvari,M.R. and Blanton,S.H.
  TITLE     Mutations in STIL, encoding a pericentriolar and centrosomal
            protein, cause primary microcephaly
  JOURNAL   Am J Hum Genet 84 (2), 286-290 (2009)
   PUBMED   19215732
  REMARK    GeneRIF: Primary microcephaly is an autosomal-recessive congenital
            disorder characterized by smaller brain size and mental
            retardation, in which homozygote mutations in STIL proteins are
            found.
REFERENCE   4  (bases 1 to 5019)
  AUTHORS   Colaizzo-Anas,T. and Aplan,P.D.
  TITLE     Cloning and characterization of the SIL promoter
  JOURNAL   Biochim Biophys Acta 1625 (2), 207-213 (2003)
   PUBMED   12531481
  REMARK    GeneRIF: isolation and characterization of a cloned promoter as
            well as its role in leukemogenesis
REFERENCE   5  (bases 1 to 5019)
  AUTHORS   Karkera,J.D., Izraeli,S., Roessler,E., Dutra,A., Kirsch,I. and
            Muenke,M.
  TITLE     The genomic structure, chromosomal localization, and analysis of
            SIL as a candidate gene for holoprosencephaly
  JOURNAL   Cytogenet Genome Res 97 (1-2), 62-67 (2002)
   PUBMED   12438740
  REMARK    GeneRIF: dHPLC techniques were used to screen for mutations and
            these studies identified several common polymorphisms but no
            disease-associated mutations, suggesting that SIL is not a common
            factor in holoprosencephaly pathogenesis in humans.
REFERENCE   6  (bases 1 to 5019)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
REFERENCE   7  (bases 1 to 5019)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   8  (bases 1 to 5019)
  AUTHORS   Aplan,P.D., Lombardi,D.P., Reaman,G.H., Sather,H.N., Hammond,G.D.
            and Kirsch,I.R.
  TITLE     Involvement of the putative hematopoietic transcription factor SCL
            in T-cell acute lymphoblastic leukemia
  JOURNAL   Blood 79 (5), 1327-1333 (1992)
   PUBMED   1311214
REFERENCE   9  (bases 1 to 5019)
  AUTHORS   Aplan,P.D., Lombardi,D.P. and Kirsch,I.R.
  TITLE     Structural characterization of SIL, a gene frequently disrupted in
            T-cell acute lymphoblastic leukemia
  JOURNAL   Mol Cell Biol 11 (11), 5462-5469 (1991)
   PUBMED   1922059
REFERENCE   10 (bases 1 to 5019)
  AUTHORS   Jonsson,O.G., Kitchens,R.L., Baer,R.J., Buchanan,G.R. and
            Smith,R.G.
  TITLE     Rearrangements of the tal-1 locus as clonal markers for T cell
            acute lymphoblastic leukemia
  JOURNAL   J Clin Invest 87 (6), 2029-2035 (1991)
   PUBMED   2040693
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB062487.1, CR749851.1,
            DA754072.1, AL135960.1 and AA897748.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a cytoplasmic protein implicated in
            regulation of the mitotic spindle checkpoint, a regulatory pathway
            that monitors chromosome segregation during cell division to ensure
            the proper distribution of chromosomes to daughter cells. The
            protein is phosphorylated in mitosis and in response to activation
            of the spindle checkpoint, and disappears when cells transition to
            G1 phase. It interacts with a mitotic regulator, and its expression
            is required to efficiently activate the spindle checkpoint. It is
            proposed to regulate Cdc2 kinase activity during spindle checkpoint
            arrest. Chromosomal deletions that fuse this gene and the adjacent
            locus commonly occur in T cell leukemias, and are thought to arise
            through illegitimate V-(D)-J recombination events. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: CR749851.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371877.8/ ENSP00000360944.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB062487.1         1-24
            25-411              CR749851.1         1-387
            412-628             DA754072.1         339-555
            629-3108            CR749851.1         605-3084
            3109-3109           AL135960.1         17536-17536
            3110-4126           CR749851.1         3086-4102
            4127-4787           AL135960.1         26920-27580
            4788-5019           AA897748.1         4-235               c
FEATURES             Location/Qualifiers
     source          1..5019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..5019
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="STIL centriolar assembly protein"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
     exon            1..112
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            113..199
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..4022
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     SCL-interrupting locus protein; SCL/TAL1 interrupting
                     locus; TAL-1-interrupting locus protein"
                     /codon_start=1
                     /product="SCL-interrupting locus protein isoform 1"
                     /protein_id="NP_001041631.1"
                     /db_xref="CCDS:CCDS41329.1"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
                     /translation="MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIY
                     LHLSYYRNPKLVVTEKTIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDP
                     GREVPECLEITPTASLPGDFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSK
                     DSLDCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNL
                     SSNLNISQVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVW
                     ACCLRYIFNSSVQERVFSESGNFIIVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSK
                     ETLHLFKNVEPPDKNPIRCELSAESQNAETEFFSKASKNFSIKRSSQKLSSGKMPIHD
                     HDSGVEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDGNFIESNPLPTPLEMVNN
                     ENPPLINHLEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPNQLNQDKPALLRHCKVRQP
                     PAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNSRQSSLA
                     PQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCSTNVCRCCQHHSHIQYSPLNSWQGAN
                     TVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCSPHSNIEP
                     SPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQI
                     QRLLEAQSLMPCSPKTTAVEDTVQAGRQMELVSVEAQSSPGLHMRKGVSIAVSTGASL
                     FWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPGSASSLKAVDIPSFEES
                     NIAVEEEFNQPLSVSNSSSLVVRKEPDVPVFFPSGQLAESVSMCLQTGPTGGASNNSE
                     TSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECT
                     RTQNVYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLA
                     CISPEAVISGLNCMSFANVGMSGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQ
                     NNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEEPPDNA
                     DSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITNEVL
                     QTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSET
                     LKQMNSMNSVGTFLDVKRLRQLPKLF"
     exon            200..307
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            308..420
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            421..608
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            609..856
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            857..940
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1027
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1178
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1288
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1403
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..2372
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..2538
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            2539..2770
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            2771..2984
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            2985..3235
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     exon            3236..5019
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4993..4998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="hexamer: AATAAA"
     polyA_site      5019
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="major polyA site"
ORIGIN      
        1 agttcccgcg accccaacgt cccagaggcg gggccggagt cggcggtggc gctccttgga
       61 gccggctccc gctcctaccc tgcaaacaga cctcagctcc gcggaagttg cggatactga
      121 ggatttggaa ttaaagaaat cattcaccag acatcatgga gcctatatat ccttttgcac
      181 ggccccagat gaataccagg tttccttcaa gcaggatggt acctttccac tttcctccat
      241 caaaatgtgc actttggaac ccaacgccaa ctggagattt catctactta catctcagtt
      301 actacagaaa tccaaagctt gtggtgactg agaagaccat ccgacttgct tatcgtcatg
      361 ctaagcagaa taaaaaaaat tcgtcatgct ttttacttgg ttctctgaca gcagacgaag
      421 atgaagaagg tgtaacattg acagtagatc gctttgatcc tggtcgagaa gtacctgaat
      481 gcctagaaat aacccctact gcttctcttc ctggggactt tttgattcca tgcaaagttc
      541 atactcaaga actttgttca agagaaatga tagttcacag tgtagatgac ttcagttcag
      601 ctttaaaggc tctacagtgc catatatgta gcaaagattc cttggactgt ggtaagctgc
      661 tttccctaag agttcatatc acttccaggg agagtttgga cagtgtggaa tttgacttgc
      721 attgggcagc agtaactcta gcaaataact ttaaatgcac acctgtgaag cccatcccca
      781 ttattccaac agctctggca agaaacttga gcagtaatct gaatatttct caagttcaag
      841 ggacttataa atatggatat cttaccatgg atgaaacacg caaattgtta cttttgttgg
      901 aatctgatcc caaggtttat tctctaccat tggtgggaat ttggctgtct ggaattacac
      961 atatctatag tcctcaggta tgggcttgct gtttgcgata catattcaat tcttctgttc
     1021 aagaaagggt tttttcagaa tctggaaatt tcatcatagt tctctattct atgacacata
     1081 aggaacctga gttttatgaa tgcttccctt gtgatggcaa gatacctgac tttcggtttc
     1141 agttgctaac cagtaaggaa acattacatc ttttcaaaaa tgttgaacct cctgacaaaa
     1201 atccaatccg ttgtgaactg agcgctgaaa gccaaaatgc agaaacagag tttttcagta
     1261 aggcttccaa gaatttttca attaagaggt cttcccaaaa gttatcttct gggaagatgc
     1321 caatacatga tcacgactct ggtgttgaag atgaagattt ttctccaaga ccaattccta
     1381 gtcctcatcc agtgagtcag aagatttcta agatccaacc atcagttcct gaactttcac
     1441 ttgtgttgga tggcaatttc atagaatcaa accctctgcc tactccattg gaaatggtga
     1501 ataatgaaaa tcctcctttg attaaccact tggaacactt gaagccattg caaccccagc
     1561 tttatgatga gaaacacagt ccagaagttg aagctggaga gccttccttg agaggaatac
     1621 caaatcagtt aaaccaggat aaaccagctc ttttgagaca ctgcaaagta agacagccac
     1681 ctgcctataa gaaagggaac ccccatacca ggaacagtat taaaccatct tctcataatg
     1741 ggccatctca tgatatattt gaaaagctcc aaacagtttc tgctggaaat gtacaaaacg
     1801 aagagtatcc tataagaccc tccacactta attctaggca gtcttctctt gccccgcagt
     1861 cccaaccaca cgattttgtt ttttcacccc ataattcagg aagaccaatg gaacttcaga
     1921 tacctactcc cccactgcca tcttactgtt ccacaaacgt ttgcaggtgt tgtcagcatc
     1981 atagtcatat tcaatatagt ccgctaaatt cttggcaagg agcaaacaca gttggatcca
     2041 ttcaagatgt ccagtctgaa gcccttcaaa agcattcatt atttcaccca agtggatgtc
     2101 cagccctgta ctgtaatgca ttctgttctt caagtagtcc tatagccttg agacctcagg
     2161 gagatatggg cagttgttct ccccacagca atattgaacc atcgcctgtg gcaagaccgc
     2221 cttcacatat ggacttatgt aacccacagc cttgcacagt gtgcatgcac acacccaaga
     2281 ctgagtcaga taatggaatg atgggactat ctccagatgc atatcggttc ctcacagaac
     2341 aagacagaca gctaagacta cttcaggcac agattcagcg tttgttggaa gcacagtctc
     2401 tgatgccctg ttcccctaag acaactgctg ttgaagacac agtgcaagct ggaagacaaa
     2461 tggagttggt ttctgtggaa gcacagtctt cccctggctt gcacatgaga aaaggtgtaa
     2521 gcattgctgt gagcacaggt gctagcttgt tttggaatgc agcaggtgag gatcaagagc
     2581 ctgactctca aatgaagcaa gatgatacca aaatttccag tgaggacatg aatttttctg
     2641 tcgatattaa taatgaagtc acaagtcttc caggtagtgc atcttcatta aaagcagttg
     2701 atattcccag ttttgaagag agcaacattg ctgtggaaga agaatttaac cagccacttt
     2761 ctgtatccaa cagctcttct ctagttgtga gaaaagaacc tgatgtacct gtgttctttc
     2821 caagtggcca gctggcagaa agtgtaagca tgtgtttaca gactggacca acagggggtg
     2881 ccagtaacaa ttctgaaaca tcagaggaac caaaaattga gcatgtaatg caacccttgc
     2941 ttcatcaacc atcagataac cagaaaattt accaggattt attgggtcaa gtaaaccacc
     3001 tattaaatag ttcctccaag gaaactgagc agccgtctac caaagcagta attatcagtc
     3061 atgaatgcac cagaacccaa aacgtttacc atacaaagaa aaaaacacat cattcaagac
     3121 tggtggacaa agattgtgtc cttaatgcaa ctcttaagca actaagaagc cttggagtaa
     3181 aaattgattc tcccactaaa gtgaagaaaa atgcacataa cgtggatcac gccagtgtgt
     3241 tggcatgcat cagcccagaa gcagtgatct ctggattaaa ctgcatgtca tttgctaatg
     3301 ttggcatgag cggcttaagc cccaatggtg tggatttgag catggaggca aatgctatag
     3361 ctctgaaata tttaaatgaa aatcagctgt cacaactgtc tgtcactcga tcgaaccaaa
     3421 ataattgtga cccattcagc cttctccata ttaatacaga cagaagcaca gtggggctta
     3481 gtttaatttc accaaacaac atgtcatttg caaccaaaaa atatatgaag agatatggac
     3541 tcctacaaag cagtgacaat agtgaagatg aagaggaacc tcccgacaat gcagatagca
     3601 agagtgaata tttattgaat cagaacctta ggtccatacc tgaacagctt ggtggtcaga
     3661 aagagccttc taagaatgac catgaaataa ttaattgttc taactgtgaa tctgtgggga
     3721 ccaacgcaga tacgccagta ttgagaaata ttacaaatga agttttgcag acaaaagcaa
     3781 aacagcagtt gactgaaaag ccagctttct tagtaaagaa ccttaaacca agtcctgcag
     3841 tgaaccttcg aaccgggaaa gcagagttca ctcaacatcc tgagaaagaa aatgaagggg
     3901 acattacaat ttttcctgaa agtttgcaac cttctgaaac gctaaagcag atgaatagca
     3961 tgaattcagt aggcaccttc ttagatgtaa aacgtctcag acagttacca aaattatttt
     4021 aaccttttaa ctccctgccc ttttaataca gggacagggt gtctcctgaa gatacttagg
     4081 gaaaacagga gcctaccaca aggctcctga tcattctgga gtcactgttt cttggtagca
     4141 gccaattggg aagagtgact tctgtgagat ggctggctgg tgataggact aagttctcat
     4201 tgttcaaata gagctgttca acatcactga aacctttaag aaaagccctg agatcagtta
     4261 ttcctacaag tttaagtagt agacagatac tatccagctc taagtctcaa ctgctctttt
     4321 atactgtact tttttttttg agacggagtt ttgctcttgt agcccaggct ggagtgcaat
     4381 ggcaggatct cagatcactg caacctctgc ctcctgggtt caagcgattt tcctgcttca
     4441 tcttcccagg tagctgggat tacaggcatg tgccacaacg cctggctaat tttgtatttt
     4501 tagtagagac tggtttctcc atgttggtca ggctggtctc aaactcccga cctcaggtga
     4561 tccgcccgcc tcggcctcct aaagtgctgg gattacaggc gtgagccact gcgcccagct
     4621 atactgtata ttttaagaag ttccagcatg ttgcatctct gcatttatcc tatatcatta
     4681 aaagaacata agttatcatg gtgttgggta aattagcgaa atcaaccctt cctaagttta
     4741 agggaaaagt tatttttaaa aacaacttaa taaaaactta cactctttta tacaagagtg
     4801 tatttcccct taattaggat gcatgttgat taaactcgag atacagcttt ttgcagtatg
     4861 gtgggttggt tttggtgtaa catcttcaac atgtcacact ggctatcaaa gaataagaaa
     4921 attattgagt atgagtgtgt tttataaact ttctgagttt ttcagatgtc ttaatatttt
     4981 ttaatagaac ttaataaaat gtctagattg actattttc
//
