LOCUS       NM_003079               5150 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SWI/SNF related BAF chromatin remodeling complex
            subunit E1 (SMARCE1), mRNA.
ACCESSION   NM_003079
VERSION     NM_003079.5
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 5150)
  AUTHORS   Hu,X., Liu,R., Hou,J., Peng,W., Wan,S., Xu,M., Li,Y., Zhang,G.,
            Zhai,X., Liang,P. and Cui,H.
  TITLE     SMARCE1 promotes neuroblastoma tumorigenesis through assisting
            MYCN-mediated transcriptional activation
  JOURNAL   Oncogene 41 (37), 4295-4306 (2022)
   PUBMED   35978151
  REMARK    GeneRIF: SMARCE1 promotes neuroblastoma tumorigenesis through
            assisting MYCN-mediated transcriptional activation.
REFERENCE   2  (bases 1 to 5150)
  AUTHORS   Dong,C., Zhang,R., Xu,L., Liu,B. and Chu,X.
  TITLE     Assembly and interaction of core subunits of BAF complexes and
            crystal study of the SMARCC1/SMARCE1 binary complex
  JOURNAL   Biochem Biophys Res Commun 599, 9-16 (2022)
   PUBMED   35158202
  REMARK    GeneRIF: Assembly and interaction of core subunits of BAF complexes
            and crystal study of the SMARCC1/SMARCE1 binary complex.
REFERENCE   3  (bases 1 to 5150)
  AUTHORS   Suzumura,H., Tsuruta,M., Okabayashi,K., Shigeta,K., Seishima,R.,
            Ishida,T., Shimada,T., Asada,Y., Koishikawa,K., Akimoto,S.,
            Itano,O., Hasegawa,H. and Kitagawa,Y.
  TITLE     BAF57 Is a Potential Determinant of Colorectal Cancer Malignancy
  JOURNAL   Anticancer Res 41 (11), 5445-5452 (2021)
   PUBMED   34732413
  REMARK    GeneRIF: BAF57 Is a Potential Determinant of Colorectal Cancer
            Malignancy.
REFERENCE   4  (bases 1 to 5150)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 5150)
  AUTHORS   Wang,W., Chi,T., Xue,Y., Zhou,S., Kuo,A. and Crabtree,G.R.
  TITLE     Architectural DNA binding by a high-mobility-group/kinesin-like
            subunit in mammalian SWI/SNF-related complexes
  JOURNAL   Proc Natl Acad Sci U S A 95 (2), 492-498 (1998)
   PUBMED   9435219
REFERENCE   6  (bases 1 to 5150)
  AUTHORS   Reyes,J.C., Muchardt,C. and Yaniv,M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   7  (bases 1 to 5150)
  AUTHORS   Wang,W., Cote,J., Xue,Y., Zhou,S., Khavari,P.A., Biggar,S.R.,
            Muchardt,C., Kalpana,G.V., Goff,S.P., Yaniv,M., Workman,J.L. and
            Crabtree,G.R.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   8  (bases 1 to 5150)
  AUTHORS   Wang,W., Xue,Y., Zhou,S., Kuo,A., Cairns,B.R. and Crabtree,G.R.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
REFERENCE   9  (bases 1 to 5150)
  AUTHORS   Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B.,
            Matsumoto,N. and Deardorff,M.A.
  TITLE     Coffin-Siris Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23556151
REFERENCE   10 (bases 1 to 5150)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ707908.1, AK095047.1,
            BC063700.1 and AC004585.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003079.4.
            
            Summary: The protein encoded by this gene is part of the large
            ATP-dependent chromatin remodeling complex SWI/SNF, which is
            required for transcriptional activation of genes normally repressed
            by chromatin. The encoded protein, either alone or when in the
            SWI/SNF complex, can bind to 4-way junction DNA, which is thought
            to mimic the topology of DNA as it enters or exits the nucleosome.
            The protein contains a DNA-binding HMG domain, but disruption of
            this domain does not abolish the DNA-binding or
            nucleosome-displacement activities of the SWI/SNF complex. Unlike
            most of the SWI/SNF complex proteins, this protein has no yeast
            counterpart. [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038191.2521550.1,
                                           SRR14038195.2129101.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348513.12/ ENSP00000323967.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                BQ707908.1         700-738
            40-2382             AK095047.1         40-2382
            2383-2392           BC063700.1         2379-2388
            2393-5150           AC004585.2         119814-122571       c
FEATURES             Location/Qualifiers
     source          1..5150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..5150
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="SWI/SNF related BAF chromatin remodeling complex
                     subunit E1"
                     /db_xref="GeneID:6605"
                     /db_xref="HGNC:HGNC:11109"
                     /db_xref="MIM:603111"
     exon            1..46
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            47..98
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1327
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="chromatin remodeling complex BRG1-associated factor
                     57; SWI/SNF-related matrix-associated actin-dependent
                     regulator of chromatin e1; SWI/SNF related, matrix
                     associated, actin dependent regulator of chromatin,
                     subfamily e, member 1"
                     /codon_start=1
                     /product="SWI/SNF-related matrix-associated
                     actin-dependent regulator of chromatin subfamily E member
                     1"
                     /protein_id="NP_003070.3"
                     /db_xref="CCDS:CCDS11370.1"
                     /db_xref="GeneID:6605"
                     /db_xref="HGNC:HGNC:11109"
                     /db_xref="MIM:603111"
                     /translation="MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGN
                     PGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGG
                     MWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQR
                     QSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSV
                     VTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGL
                     KVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKD
                     DENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESN
                     SATVEEPPTDPIPEDEKKE"
     exon            99..142
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            143..247
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            248..328
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            329..460
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            461..632
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            633..805
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            806..907
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1118
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..5150
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1365..1370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="hexamer: AATGAA"
     polyA_site      1390
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="major polyA site"
     regulatory      2380..2385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="hexamer: AATAAA"
     polyA_site      2402
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="major polyA site"
     regulatory      5128..5133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
                     /note="hexamer: ATTAAA"
     polyA_site      5150
                     /gene="SMARCE1"
                     /gene_synonym="BAF57; CSS5"
ORIGIN      
        1 caaagggaag cgaagccgga gctgcgggcg ctttttctgc ccgcggtgtc tcagattcat
       61 tcttaaggaa ctgagaactt aatcttccaa aatgtcaaaa agaccatctt atgccccacc
      121 tcccacccca gctcctgcaa cacaaatgcc cagcacacca gggtttgtgg gatacaatcc
      181 atacagtcat ctcgcctaca acaactacag gctgggaggg aacccgggca ccaacagccg
      241 ggtcacggca tcctctggta tcacgattcc aaaaccccca aagccaccag ataagccgct
      301 gatgccctac atgaggtaca gcagaaaggt ctgggaccaa gtaaaggctt ccaaccctga
      361 cctaaagttg tgggagattg gcaagattat tggtggcatg tggcgagatc tcactgatga
      421 agaaaaacaa gaatatttaa acgaatacga agcagaaaag atagagtaca atgaatctat
      481 gaaggcctat cataattccc ccgcgtacct tgcttacata aatgcaaaaa gtcgtgcaga
      541 agctgcttta gaggaagaaa gtcgacagag acaatctcgc atggagaaag gagaaccgta
      601 catgagcatt cagcctgctg aagatccaga tgattatgat gatggctttt caatgaagca
      661 tacagccacc gcccgtttcc agagaaacca ccgcctcatc agtgaaattc ttagtgagag
      721 tgtggtgcca gacgttcggt cagttgtcac aacagctaga atgcaggtcc tcaaacggca
      781 ggtccagtcc ttaatggttc atcagcgaaa actagaagct gaacttcttc aaatagagga
      841 acgacaccag gagaagaaga ggaaattcct ggaaagcaca gattcattta acaatgaact
      901 taaaaggttg tgcggtctga aagtagaagt ggatatggag aaaattgcag ctgagattgc
      961 acaggcagag gaacaggccc gcaaaaggca ggaggaaagg gagaaggagg ccgcagagca
     1021 agctgagcgc agtcagagca gcatcgttcc tgaggaagaa caagcagcta acaaaggcga
     1081 ggagaagaaa gacgacgaga acattccgat ggagacagag gagacacacc ttgaagaaac
     1141 aacagagagc caacagaatg gtgaagaagg cacgtctact cctgaggaca aggagagtgg
     1201 gcaggagggg gtcgacagta tggcagagga aggaaccagt gatagtaaca ctggctcgga
     1261 gagcaacagt gcaacagtgg aggagccacc aacagatccc ataccagaag atgagaaaaa
     1321 agaataagtg ttgccttgtt ttgtgtgttc taaatacttt ttttaatgaa aaaatgtttt
     1381 ttggttttaa tggtgttacg tggtttgtgt attaattttt tttcttgtcc atatcacacc
     1441 accaaaggct tttggaccat ttagcatcat gagcctaatg gctcagtcag tcacctttct
     1501 taagtgttgt gaagatggct cttttctttg gatcttgttt ctagccctca actgctgaaa
     1561 gcctcagaat ttagattaat tgagaaaaca cccacctctt ttagagaatt atcctttgat
     1621 gctgcagaat ctactcttac aatgccttcc tacagctcac tggggtgctt accaaagcca
     1681 tagctttaaa ccttcccagt ccccatcagt agcttcctga aagtctcctc tcttgtttac
     1741 ttctgcaaag ggtagcttct taaaaacgtg atcatgtatg agtatgtatt tgttcactta
     1801 ccctttttta cttttaatca atgtcagata ccaagagttg tgttaagctg agtgtagtgt
     1861 gtaactaact acacttggat cttactgatc cagaaatagt ccccatagtt agagtagtta
     1921 cttatgaagt ggttattaaa gtgaacacag cacatataca ttatctatac tgctttttgt
     1981 tatgattaat actgggtatg ttctggtaaa tccatcctta ttgtatagaa aaaaaattac
     2041 ttttttacca ggttttccaa agacagaata gatcacaaag ctcaaggaat ttaatattct
     2101 tgtaatggac tagataattc aaactgatta gcccattcca gaagaaaaac agctgggaat
     2161 taagttaatc cacttgaaat tgttttacaa taatcagaac atccaaacct caaggctcag
     2221 gatcccatag accagagccc acctttttga taaacttagt aaagtcttgg agactagaag
     2281 caagatagtt tgtgacacat aagcttccca aaaactagaa tagattttta ctgaatagtg
     2341 gtatatctga tggtatatgt ttcttaaagg tccaaatgta ataaaaaaaa aaatgaaaaa
     2401 aaggtctcag tgtttttaat gcactacata tttgtatgca agacaagcat ccagtttttt
     2461 tctgtaatgc agtgacagtg tggaatgacc actcagccat tataaatttg tgtactcagg
     2521 gcccttgtct cacccaacta tctctataaa ctgctgcagt agcttatttg tacaagacac
     2581 ttgtgaaaat cagttttctt acattatagt cattgtcaca tatggaagtt ggtctttgat
     2641 tccaaaagta aagggaatat gtttctacat taacaggaat atggagaaat ctgtaacgtt
     2701 tgaattatct ttgaaagaat ggctaaatga taaatgttaa gtcctgtgcc tatatggaga
     2761 ggactctgta ccagcatgag ttaatttaag tggattcact gctattcagt tcatagcaca
     2821 ttagtgacta ggaatgtgtg ttcagcctcc tgagagagga ggggaggaag cttgatactg
     2881 ggtggaaaca actcttgaca tctgtttcct tgtgtgtcaa agaacgaatt tgtatcaaat
     2941 agatctgttt tgagctttgg ccattatttg gctaagaact tcagccatct catctcagac
     3001 aaattggaca gcctctttga tacattttct agtagtcaaa atggggcaga tgtagtttaa
     3061 tatgggtgga aaactgcccc agcaagatac caggttattt actgtggtat cgaaagctct
     3121 aagagaatgg aagtggttct tttgcccggc tggaaatagc agtgggaaga caagtctatc
     3181 cagaccaagc ctgtccatac aacactggca atcagttgat gagggaatta agtcagatgg
     3241 gagacgtctc aatctgtcgc ccaggttgga gtgcagtggt ggcgatctca gctcactgca
     3301 acctccacct cccaggttca agcaattctc tctgcctcag cctctagagc agctgggatt
     3361 acaggctctc gccaccatgc ccggttaatt tttgtatttt ttagtagaga tggggtttca
     3421 ccatgttagc caggctgatc ttgaactcgt gacctcaggt gatccgcctg cctcagtctc
     3481 ccaaagtgct gggattacag gcgtgagcca ctgtgcccgg cctcagttgg gatttgacag
     3541 ctctgaacct cagcagggga agattgatgt aaaaatccac ttggtcagag tgatatatgt
     3601 agacttgatg tttgagatgg ttctcagttt agagaatgtg ggatatggta gaggtctttg
     3661 tttttttccc atgtcccaaa aggtgctggg caagtagctt gaactcgagc ctgttttaat
     3721 tataaaatag atcaaactgc tctttcttgg tgcccttact gctccttgat ttttagtgca
     3781 tttattttga gtatgaatgc ataaagtctg agggcctaaa ttttgttaat tttttttaac
     3841 aaatgggaga ggggaatcct cgatagtcac ccaattttcc tttttttttg agacagtctg
     3901 actgttgccc aggctggagt gtaatggcgc catctcggct cactgcaaca tccagctcct
     3961 gggtttcagc aattctcctg cctcagcctc ctgagtagct gggattacag gcgcccgcca
     4021 ccacgcccgg ctaatttttg tatttttagt agagacagga ttttgccatg tttgccagcc
     4081 tggtctcgaa ctcttgacct cctgatccac cctcctctgc ctcccaaagt gctgggatta
     4141 caggcgtgag ccaccgcgcc cagccccata gtcccccaat tttctaacag ttttaaattc
     4201 tgtaacttct cctgtctgta aacaaggctg tcttttcaaa tggctctcct acaggatgtg
     4261 ataattatct attctataaa gccgaggttt ggagaggtaa atagctattt cacattaaca
     4321 caataatgtc aatgccctat ggaaaagata aaatacttgg actatatttt aaaggggaat
     4381 ctggggtcat gcatattgaa gtttaactag atccctccag atttttggtt ttgatcctac
     4441 acatttagat actagttttg gattttagac agttggtgct gacagtgtga aactcctatt
     4501 gcctgcagtt aaattgaagc tttggtttct cgtgaacagg cagtgaagct ggtattatac
     4561 tttaagtcct catttcagaa atagtttccc tccaccccca agcactacca cacatggtct
     4621 ccccacctgg tttcagctag tgcattagtt ttatcttgtt ttttaccgct gggcaaacct
     4681 tgctggaaca acaactgact tcatgatttg cacatttgga gggcttaacg tctttgcaaa
     4741 tgaaaaatcc actgtacaat aacaagctca aaggaactcg gagccttttt agaagaaatc
     4801 gtgctgaatt ataatgtggc ttactgcaat aatgtttctt tgatcaggat ggaaaggaaa
     4861 atactgagtt tagcagaaaa cgatgtctaa atgtatttgt aatgatacaa ttgtttataa
     4921 atgttttact attaggttga accataagaa attgccagtg tacaatttca tctacaaaat
     4981 gactggctta acctaaattc tgcattttat actccaagaa taagctcttc gtggcagctt
     5041 tctaagtgtg aaatgatgga actttctatt tgccagaatg acctacactt ctctaatagt
     5101 ttatctcata ttgttagcca aacgctgatt aaaatgcaaa tttcaaacta
//
