LOCUS       NM_198935               4549 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SS18L1 subunit of BAF chromatin remodeling complex
            (SS18L1), transcript variant 1, mRNA.
ACCESSION   NM_198935
VERSION     NM_198935.3
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 4549)
  AUTHORS   Chen,C., Wang,J., Kang,M., Wu,P., Zhu,L., Fang,Y. and Xue,Y.
  TITLE     Identification of a novel MEF2C::SS18L1 fusion in childhood acute
            B-lymphoblastic leukemia
  JOURNAL   J Cancer Res Clin Oncol 150 (6), 314 (2024)
   PUBMED   38907739
  REMARK    GeneRIF: Identification of a novel MEF2C::SS18L1 fusion in
            childhood acute B-lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4549)
  AUTHORS   Min,S. and Park,M.S.
  TITLE     The SS18L1 gene rs2295207 polymorphisms in association with
            hepatocellular carcinoma
  JOURNAL   Asian J Surg 45 (10), 2125-2126 (2022)
   PUBMED   35584997
  REMARK    GeneRIF: The SS18L1 gene rs2295207 polymorphisms in association
            with hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 4549)
  AUTHORS   Du,A., Li,L., Jiao,Z., Zhu,G., Peng,T. and Li,H.
  TITLE     Protein expression pattern of calcium-responsive transactivator in
            early postnatal and adult testes
  JOURNAL   Histochem Cell Biol 155 (4), 491-502 (2021)
   PUBMED   33398438
  REMARK    GeneRIF: Protein expression pattern of calcium-responsive
            transactivator in early postnatal and adult testes.
REFERENCE   4  (bases 1 to 4549)
  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   5  (bases 1 to 4549)
  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 4549)
  AUTHORS   Teyssou,E., Vandenberghe,N., Moigneu,C., Boillee,S., Couratier,P.,
            Meininger,V., Pradat,P.F., Salachas,F., Leguern,E. and
            Millecamps,S.
  TITLE     Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis
  JOURNAL   Neurobiol Aging 35 (5), 1213 (2014)
   PUBMED   24360741
  REMARK    GeneRIF: Its mutation causes amyotrophic lateral sclerosis.
REFERENCE   7  (bases 1 to 4549)
  AUTHORS   Pradhan,A. and Liu,Y.
  TITLE     A multifunctional domain of the calcium-responsive transactivator
            (CREST) that inhibits dendritic growth in cultured neurons
  JOURNAL   J Biol Chem 280 (26), 24738-24743 (2005)
   PUBMED   15866867
  REMARK    GeneRIF: analysis of the CREST domain that inhibits dendritic
            growth in cultured neurons
REFERENCE   8  (bases 1 to 4549)
  AUTHORS   Aizawa,H., Hu,S.C., Bobb,K., Balakrishnan,K., Ince,G., Gurevich,I.,
            Cowan,M. and Ghosh,A.
  TITLE     Dendrite development regulated by CREST, a calcium-regulated
            transcriptional activator
  JOURNAL   Science 303 (5655), 197-202 (2004)
   PUBMED   14716005
REFERENCE   9  (bases 1 to 4549)
  AUTHORS   Storlazzi,C.T., Mertens,F., Mandahl,N., Gisselsson,D., Isaksson,M.,
            Gustafson,P., Domanski,H.A. and Panagopoulos,I.
  TITLE     A novel fusion gene, SS18L1/SSX1, in synovial sarcoma
  JOURNAL   Genes Chromosomes Cancer 37 (2), 195-200 (2003)
   PUBMED   12696068
  REMARK    GeneRIF: A synovial sarcoma of classic morphology contained a novel
            t(20;X) SS18L1(strong homology to SS18 on Ch20)/SSX1 fusion
            transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused
            in-frame with nucleotide 422 (exon 6) of SSX1.
REFERENCE   10 (bases 1 to 4549)
  AUTHORS   de Bruijn,D.R., Kater-Baats,E., Eleveld,M., Merkx,G. and Geurts Van
            Kessel,A.
  TITLE     Mapping and characterization of the mouse and human SS18 genes, two
            human SS18-like genes and a mouse Ss18 pseudogene
  JOURNAL   Cytogenet Cell Genet 92 (3-4), 310-319 (2001)
   PUBMED   11435705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC375156.1, AB014593.1,
            BX640848.1 and AL078633.32.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_198935.2.
            
            Summary: This gene encodes a calcium-responsive transactivator
            which is an essential subunit of a neuron-specific
            chromatin-remodeling complex. The structure of this gene is similar
            to that of the SS18 gene. Mutations in this gene are involved in
            amyotrophic lateral sclerosis (ALS). Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Sep 2014].
            
            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 :: SRR1803611.90635.1, AB014593.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331758.8/ ENSP00000333012.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DC375156.1         50-75
            27-4519             AB014593.1         1-4493
            4520-4545           BX640848.1         3594-3619
            4546-4549           AL078633.32        53162-53165         c
FEATURES             Location/Qualifiers
     source          1..4549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..4549
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /note="SS18L1 subunit of BAF chromatin remodeling complex"
                     /db_xref="GeneID:26039"
                     /db_xref="HGNC:HGNC:15592"
                     /db_xref="MIM:606472"
     exon            1..121
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1243
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     calcium-responsive transactivator; SS18-like protein 1;
                     SYT homolog 1; SS18L1, nBAF chromatin remodeling complex
                     subunit; synovial sarcoma translocation gene on chromosome
                     18-like 1"
                     /codon_start=1
                     /product="calcium-responsive transactivator isoform 1"
                     /protein_id="NP_945173.1"
                     /db_xref="CCDS:CCDS13491.1"
                     /db_xref="GeneID:26039"
                     /db_xref="HGNC:HGNC:15592"
                     /db_xref="MIM:606472"
                     /translation="MSVAFASARPRGKGEVTQQTIQKMLDENHHLIQCILEYQSKGKT
                     AECTQYQQILHRNLVYLATIADSNQNMQSLLPAPPTQNMNLGPGALTQSGSSQGLHSQ
                     GSLSDAISTGLPPSSLLQGQIGNGPSHVSMQQTAPNTLPTTSMSISGPGYSHAGPASQ
                     GVPMQGQGTIGNYVSRTNINMQSNPVSMMQQQAATSHYSSAQGGSQHYQGQSSIAMMG
                     QGSQGSSMMGQRPMAPYRPSQQGSSQQYLGQEEYYGEQYSHSQGAAEPMGQQYYPDGH
                     GDYAYQQSSYTEQSYDRSFEESTQHYYEGGNSQYSQQQAGYQQGAAQQQTYSQQQYPS
                     QQSYPGQQQGYGSAQGAPSQYPGYQQGQGQQYGSYRAPQTAPSAQQQRPYGYEQGQYG
                     NYQQ"
     exon            122..198
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            199..283
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            284..428
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            429..608
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            609..773
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            774..875
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            876..968
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1088
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1216
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..4549
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4497..4502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /note="hexamer: AATAAA"
     polyA_site      4520
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /note="major polyA site"
     regulatory      4524..4529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
                     /note="hexamer: TATAAA"
     polyA_site      4549
                     /gene="SS18L1"
                     /gene_synonym="CREST; LP2261; SMARCL2"
ORIGIN      
        1 gcagccggag tatccacctc gatgaccacg ggctgagccc cgcgccgcca ccatgtccgt
       61 ggccttcgcg tctgcccggc caagaggcaa aggggaggtt acgcagcaaa ccatccagaa
      121 gatgctggac gagaaccacc acctgatcca gtgcatcctg gagtaccaga gcaagggcaa
      181 gacggccgag tgcacgcagt accagcagat cctgcaccgg aacctggtat acctggccac
      241 gatcgcagac tccaaccaga acatgcagtc cctgcttcct gccccgccca cgcagaacat
      301 gaacctgggc cctggagccc tgactcagag cggctccagc cagggcctgc actctcaggg
      361 cagcctgagt gacgccatca gcacgggcct gccaccctcc tccctcctgc agggccagat
      421 tggcaacggg ccgagccacg tgtccatgca gcagacggcg cctaacacgc tgcccaccac
      481 ctccatgagc atctctgggc ccggctacag ccacgcggga cccgcctcgc agggcgtccc
      541 catgcagggg caaggcacca tcggcaacta cgtgtctcgg accaacatca acatgcagtc
      601 caacccagtc tccatgatgc agcagcaggc ggccacgtcg cactacagct cggcgcaggg
      661 cggcagccag cactaccagg gccagtcgtc catcgccatg atggggcagg gcagccaggg
      721 gagcagcatg atggggcagc ggcccatggc gccctaccgg ccctcccagc aaggctcttc
      781 ccagcagtac ctgggccagg aggagtacta tggcgagcag tacagccaca gccagggcgc
      841 cgcggagccc atgggccagc agtactaccc cgacggccat ggcgattacg cctaccagca
      901 gtcatcctac acggagcaga gctacgaccg gtccttcgag gagtccacgc agcactacta
      961 tgagggggga aactcccagt acagccagca gcaggccggg taccagcagg gtgccgcgca
     1021 gcagcagacg tactcccagc agcagtaccc cagccagcag agctaccccg ggcagcagca
     1081 gggctacggg tctgcccagg gagccccgtc acagtacccc ggctaccagc aaggccaagg
     1141 ccagcagtac ggaagctacc gagcaccgca gacagcgccg tctgcccagc agcagcggcc
     1201 ctacggctat gaacagggcc agtatggaaa ttaccagcag taagggacac acattctggc
     1261 tggagccctt gtggtagcgt gttcatccag gggccggatg ggctggcggc agctctggtg
     1321 aattgtgaca tgttggttac ctgttcgccc agtgccacgt ctgcatgtga agcgtgctca
     1381 tttcatgctg ggtatgacgc cgagcgcaca ccactggcgt gagacagcgc ttggtggtgt
     1441 gatacttttg gtgctgtgta tagtattgta tgtcggtaca cggagaggta tccttttttt
     1501 gtcccccgcc cccttctcaa tgtttctagc tagctttggg ggtcattttg tcatcagagc
     1561 attctgtgcc cagggacagg acagatctcg aggacaccac agtccacctg ttcccgtcaa
     1621 cagacgttag gtctcatttt cctcctcatg cagtgttgta gtgtgggttg tcaacttttc
     1681 tttaactggc tacgccacag ctggacacac atgcagcccc tggagggcag cctcttcctg
     1741 tgcctcgatg gggtgggtgg gagggcatct tctgtgcgtt gggtcagttt ctgttacgta
     1801 acgaaaagga taaacatctc ccacgggaga ggccacagat ggccacttcc agagcttgcc
     1861 cattgcctgt ctctcgccaa ttccgtttat ccaaaaaggt acatgttttt gtattaaaaa
     1921 gtaaacaggg atcagtgact gtattccaaa taaatatgaa tccctaaggg ccgtggacaa
     1981 attgcctaac ccagggccag cggtattgct gaaggaaagg ggcagctctc tgggaagtgg
     2041 gccctcagag attactctgg ctttgaccct tgtttagctg atggtcattt ctgggattgg
     2101 aatatttaat aagcccaatt ctaagttgat aggtaatttt aaatattcaa accaaatctt
     2161 cccaacagtt ggcaagttgt ttattttata ttatttcttc caggacctac ttgctcagat
     2221 ctccaagcaa gcatttcttt tcttttaggg atgtctgaaa gtcacatcca gttacattac
     2281 tgtgttcttt ctaatgaaaa gtaaaggttt tatatagaga aacttgagta atttttacat
     2341 ttctaagaca ttaaatccca tttaaattct gtgtgaacat taaagacagc acacttgcaa
     2401 aagtatggtc aaaggaaaaa aatcccacat ttcaattaac aagtagcatg gacatttgat
     2461 caacctttag ttggaataat aatattcata tttgctatga atccttttaa aaaaatcttt
     2521 ggataaatgc tgacagattt ccaagaacta ccaagaaaat acaagagata tccaatgctt
     2581 gatatatgag gcctagtaat aacgatattt ctctttaatt gatgttttgt tttaaaagtt
     2641 aaaagtaatt cttggcgtgg tggttcacgc ctgtaatccc agcactttgg gaggccgaag
     2701 cgggcggatc acctgaggtc gggagttcga gaccagcctg accaacatgg agaaaccccg
     2761 tccctactaa aaatacaaaa ttagccaggt atggtggtgc atacctgtaa tcccagctac
     2821 tcgggaacct gaggcaggag aatggcttga acccaggaga cagaggttgt ggtggggcaa
     2881 gatcgcacca ttgcacccga gcctaggcaa caagagtgaa attccgtctc aaaaaaataa
     2941 ataaataaat aaataaataa gttaaaatta attctttatc cagagtcggg tgctttagaa
     3001 tttataagtc acttatgtgt tttgcttgaa ttaattctga cagcccctat gaggaaatct
     3061 ggaggcaggt aacagttccc attttagaga tgaagaactg aggcacagat taaaggactt
     3121 gcctgtgttg aataccagtc ctgttctagg acattctccc ctctcctagg agacggatgt
     3181 cacgcacaaa tggggagaga agtgtttatt ttgtaggcac taagggtttc taaaaccctt
     3241 aacactggta agggctcaaa aataaacgta tgtgttcata ttcgatcacc gaaatgagag
     3301 ttcttaattg ctaattgaca aacgcgttag caatttcagt tagggagtca tctcccttga
     3361 ttgtgttctt ttcctgtcaa ttttcataga cctaatttgc aaactcaatc ggggactaaa
     3421 atttcccact gaaaatgtta aacattttag ataactgtga agatagttta tttttattcc
     3481 ttgccaatct gggaatatgc cttttttgtg tgtttgtgtg tttttttaag tgctgtatta
     3541 ataatacttt ctgaaagaaa aggacactta ccccaaaact tcaatctgaa atgtcttaca
     3601 ttaagaatat cttgaatgtt gtgtatatat tttaaaaagc actttgcaaa atagtttgta
     3661 catttatttc ctaatttata catgattttt ggtgttaata tatttaatga ttaataacag
     3721 aatgtttatt taatgtgctg tccattttta tgtaatatta tggggaaagt gatgccagca
     3781 gttccttttc attattctat cttctgtcat atgaatgttg agcaaagctt aggccaacat
     3841 gaattgtttg tgaagtgtgg ttgatggtgc tttgtttttt tctgactact tctatggaag
     3901 gccagtgaag aagcaaagga agacatgaaa attgacgctc attcttcttc ctattgttcc
     3961 ctgacatcca gcaaattgtg aatttgaaaa atgatggcca gttttcagaa gtgctgacaa
     4021 attcatattg gtatgcaaaa gctcatcacc cattaaggtt tgttgttgaa tcaacagtac
     4081 tcagcatatt aaaacagtac atcagaactc atgccaacag tctttatgat gggattaagg
     4141 tggacaagat ctcctaagat ctgtgaatgg gattaaggtg gacaagatct cctaagatct
     4201 gaaaagaaac cttaatacgc tcatatggtt ggagtgttaa gtgaacctct gattttgtca
     4261 gggtttttct acgtgtaggc gtgaataggg ggcacccctt caaaactgta caaagaagac
     4321 gactgttttc catttccatt taaacatttt tagccacttc atttctattt attgaacagg
     4381 tcaaatttgt cttgttattt gtgagtacag tacatttaaa aaacatcctt atcggttatt
     4441 tttttttcag tcggagtttg acgtataaat tgtttatgct tttggtgtaa tctcttaata
     4501 aactggttct tcaaaaatca tcctataaag tgagttttca tgaagttaa
//
