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2024-04-20 01:05:22, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_003069               4102 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens SWI/SNF related, matrix associated, actin dependent
            regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript
            variant 1, mRNA.
ACCESSION   NM_003069
VERSION     NM_003069.3  GI:164419747
KEYWORDS    RefSeq.
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 4102)
  AUTHORS   Eckey,M., Kuphal,S., Straub,T., Rummele,P., Kremmer,E.,
            Bosserhoff,A.K. and Becker,P.B.
  TITLE     Nucleosome remodeler SNF2L suppresses cell proliferation and
            migration and attenuates Wnt signaling
  JOURNAL   Mol. Cell. Biol. 32 (13), 2359-2371 (2012)
   PUBMED   22508985
  REMARK    GeneRIF: The effect of SNF2L depletion on gene expression portray
            the cell in a state of activated Wnt signaling with increased
            proliferation and locomotion. High levels of SNF2L expression in
            normal melanocytes contrast with undetectable expression in
            melanoma.
REFERENCE   2  (bases 1 to 4102)
  AUTHORS   Shain,A.H., Giacomini,C.P., Matsukuma,K., Karikari,C.A.,
            Bashyam,M.D., Hidalgo,M., Maitra,A. and Pollack,J.R.
  TITLE     Convergent structural alterations define SWItch/Sucrose
            NonFermentable (SWI/SNF) chromatin remodeler as a central tumor
            suppressive complex in pancreatic cancer
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 109 (5), E252-E259 (2012)
   PUBMED   22233809
  REMARK    GeneRIF: expression profiling analyses revealed that SWI/SNF likely
            antagonizes Polycomb repressive complex 2, implicating this as one
            possible mechanism of tumor suppression
REFERENCE   3  (bases 1 to 4102)
  AUTHORS   Erdel,F. and Rippe,K.
  TITLE     Binding kinetics of human ISWI chromatin-remodelers to DNA repair
            sites elucidate their target location mechanism
  JOURNAL   Nucleus 2 (2), 105-112 (2011)
   PUBMED   21738833
  REMARK    GeneRIF: ISWI proteins Snf2H, Snf2L as well as Acf1 accumulate at
            UV-induced DNA damage sites within tens of seconds and reach a
            plateau after a few minutes.
REFERENCE   4  (bases 1 to 4102)
  AUTHORS   Ye,Y., Xiao,Y., Wang,W., Wang,Q., Yearsley,K., Wani,A.A., Yan,Q.,
            Gao,J.X., Shetuni,B.S. and Barsky,S.H.
  TITLE     Inhibition of expression of the chromatin remodeling gene, SNF2L,
            selectively leads to DNA damage, growth inhibition, and cancer cell
            death
  JOURNAL   Mol. Cancer Res. 7 (12), 1984-1999 (2009)
   PUBMED   19996304
  REMARK    GeneRIF: Cancers are sensitive to SNF2L knockdown because, unlike
            their normal counterparts, they lack sufficient compensation from
            other family members.
REFERENCE   5  (bases 1 to 4102)
  AUTHORS   Lazzaro,M.A., Todd,M.A., Lavigne,P., Vallee,D., De Maria,A. and
            Picketts,D.J.
  TITLE     Characterization of novel isoforms and evaluation of SNF2L/SMARCA1
            as a candidate gene for X-linked mental retardation in 12 families
            linked to Xq25-26
  JOURNAL   BMC Med. Genet. 9, 11 (2008)
   PUBMED   18302774
  REMARK    GeneRIF: SNF2L mutations are not a cause of X-linked mental
            retardation in our cohort of patients, although we cannot exclude
            the possibility that regulatory mutations might exist
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4102)
  AUTHORS   Barak,O., Lazzaro,M.A., Cooch,N.S., Picketts,D.J. and
            Shiekhattar,R.
  TITLE     A tissue-specific, naturally occurring human SNF2L variant
            inactivates chromatin remodeling
  JOURNAL   J. Biol. Chem. 279 (43), 45130-45138 (2004)
   PUBMED   15310751
  REMARK    GeneRIF: a neuronal SNF2L variant inactivates chromatin remodeling
REFERENCE   7  (bases 1 to 4102)
  AUTHORS   Barak,O., Lazzaro,M.A., Lane,W.S., Speicher,D.W., Picketts,D.J. and
            Shiekhattar,R.
  TITLE     Isolation of human NURF: a regulator of Engrailed gene expression
  JOURNAL   EMBO J. 22 (22), 6089-6100 (2003)
   PUBMED   14609955
REFERENCE   8  (bases 1 to 4102)
  AUTHORS   Maguire,P.B., Wynne,K.J., Harney,D.F., O'Donoghue,N.M., Stephens,G.
            and Fitzgerald,D.J.
  TITLE     Identification of the phosphotyrosine proteome from thrombin
            activated platelets
  JOURNAL   Proteomics 2 (6), 642-648 (2002)
   PUBMED   12112843
REFERENCE   9  (bases 1 to 4102)
  AUTHORS   Bozhenok,L., Wade,P.A. and Varga-Weisz,P.
  TITLE     WSTF-ISWI chromatin remodeling complex targets heterochromatic
            replication foci
  JOURNAL   EMBO J. 21 (9), 2231-2241 (2002)
   PUBMED   11980720
  REMARK    Erratum:[EMBO J 2002 Jun 17;21(12):3212]
REFERENCE   10 (bases 1 to 4102)
  AUTHORS   Okabe,I., Bailey,L.C., Attree,O., Srinivasan,S., Perkel,J.M.,
            Laurent,B.C., Carlson,M., Nelson,D.L. and Nussbaum,R.L.
  TITLE     Cloning of human and bovine homologs of SNF2/SWI2: a global
            activator of transcription in yeast S. cerevisiae
  JOURNAL   Nucleic Acids Res. 20 (17), 4649-4655 (1992)
   PUBMED   1408766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AW614102.1, BC117447.1 and
            BQ006393.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 2, 2008 this sequence version replaced gi:21071043.
            
            Summary: This gene encodes a member of the SWI/SNF family of
            proteins. Members of this family have helicase and ATPase
            activities and are thought to regulate transcription of certain
            genes by altering the chromatin structure around those genes.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: BC117447.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AW614102.1         158-235             c
            79-3741             BC117447.1         1-3663
            3742-4102           BQ006393.1         1-361               c
FEATURES             Location/Qualifiers
     source          1..4102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..4102
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="SWI/SNF related, matrix associated, actin dependent
                     regulator of chromatin, subfamily a, member 1"
                     /db_xref="GeneID:6594"
                     /db_xref="HGNC:11097"
                     /db_xref="HPRD:02055"
                     /db_xref="MIM:300012"
     exon            1..287
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    30..32
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="upstream in-frame stop codon"
     CDS             114..3278
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="isoform a is encoded by transcript variant 1;
                     global transcription activator homologous sequence;
                     SNF2-like 1; sucrose nonfermenting 2-like protein 1;
                     SWI/SNF-related matrix-associated actin-dependent
                     regulator of chromatin a1; probable global transcription
                     activator SNF2L1; SWI/SNF-related matrix-associated
                     actin-dependent regulator of chromatin subfamily A member
                     1; ATP-dependent helicase SMARCA1; nucleosome-remodeling
                     factor subunit SNF2L"
                     /codon_start=1
                     /product="probable global transcription activator SNF2L1
                     isoform a"
                     /protein_id="NP_003060.2"
                     /db_xref="GI:21071044"
                     /db_xref="CCDS:CCDS14612.1"
                     /db_xref="GeneID:6594"
                     /db_xref="HGNC:11097"
                     /db_xref="HPRD:02055"
                     /db_xref="MIM:300012"
                     /translation="
MEQDTAAVAATVAAADATATIVVIEDEQPGPSTSQEEGAAAAATEATAATEKGEKKKEKNVSSFQLKLAAKAPKSEKEMDPEYEEKMKADRAKRFEFLLKQTELFAHFIQPSAQKSPTSPLNMKLGRPRIKKDEKQSLISAGDYRHRRTEQEEDEELLSESRKTSNVCIRFEVSPSYVKGGPLRDYQIRGLNWLISLYENGVNGILADEMGLGKTLQTIALLGYLKHYRNIPGPHMVLVPKSTLHNWMNEFKRWVPSLRVICFVGDKDARAAFIRDEMMPGEWDVCVTSYEMVIKEKSVFKKFHWRYLVIDEAHRIKNEKSKLSEIVREFKSTNRLLLTGTPLQNNLHELWALLNFLLPDVFNSADDFDSWFDTKNCLGDQKLVERLHAVLKPFLLRRIKTDVEKSLPPKKEIKIYLGLSKMQREWYTKILMKDIDVLNSSGKMDKMRLLNILMQLRKCCNHPYLFDGAEPGPPYTTDEHIVSNSGKMVVLDKLLAKLKEQGSRVLIFSQMTRLLDILEDYCMWRGYEYCRLDGQTPHEEREDKFLEVEFLGQREAIEAFNAPNSSKFIFMLSTRAGGLGINLASADVVILYDSDWNPQVDLQAMDRAHRIGQKKPVRVFRLITDNTVEERIVERAEIKLRLDSIVIQQGRLIDQQSNKLAKEEMLQMIRHGATHVFASKESELTDEDITTILERGEKKTAEMNERLQKMGESSLRNFRMDIEQSLYKFEGEDYREKQKLGMVEWIEPPKRERKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTPEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIKKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLIEKENMEIEERERAEKKKRATKTPMVKFSAFS
"
     misc_feature    <324..443
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="DNA-binding domain; Region: DBINO; pfam13892"
                     /db_xref="CDD:206063"
     misc_feature    447..449
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    459..461
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P28370.2); phosphorylation site"
     misc_feature    468..470
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P28370.2); phosphorylation site"
     misc_feature    669..1511
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="SNF2 family N-terminal domain; Region: SNF2_N;
                     pfam00176"
                     /db_xref="CDD:201060"
     misc_feature    720..1139
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="DEAD-like helicases superfamily. A diverse family
                     of proteins involved in ATP-dependent RNA or DNA
                     unwinding. This domain contains the ATP-binding region;
                     Region: DEXDc; cd00046"
                     /db_xref="CDD:28927"
     misc_feature    744..758
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="ATP binding site [chemical binding]; other site"
                     /db_xref="CDD:28927"
     misc_feature    1044..1055
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P28370.2);
                     Region: DEAH box"
     misc_feature    1044..1055
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="putative Mg++ binding site [ion binding]; other
                     site"
                     /db_xref="CDD:28927"
     misc_feature    1542..1973
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="Helicase superfamily c-terminal domain; associated
                     with DEXDc-, DEAD-, and DEAH-box proteins, yeast
                     initiation factor 4A, Ski2p, and Hepatitis C virus NS3
                     helicases; this domain is found in a wide variety of
                     helicases and helicase related proteins; may...; Region:
                     HELICc; cd00079"
                     /db_xref="CDD:28960"
     misc_feature    order(1641..1652,1710..1715,1833..1841)
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="nucleotide binding region [chemical binding]; other
                     site"
                     /db_xref="CDD:28960"
     misc_feature    order(1857..1859,1920..1922,1932..1934,1941..1943)
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="ATP-binding site [chemical binding]; other site"
                     /db_xref="CDD:28960"
     misc_feature    2385..2627
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="HAND; Region: HAND; pfam09110"
                     /db_xref="CDD:204139"
     misc_feature    2682..2807
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding
                     domains; Region: SANT; smart00717"
                     /db_xref="CDD:197842"
     misc_feature    2688..2807
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains.
                     Tandem copies of the domain bind telomeric DNA tandem
                     repeatsas part of the capping complex. Binding is sequence
                     dependent for repeats which contain the G/C rich motif
                     [C2-3 A (CA)1-6]. The domain is...; Region: SANT; cd00167"
                     /db_xref="CDD:29107"
     misc_feature    order(2691..2693,2781..2786,2790..2795,2799..2807)
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:29107"
     misc_feature    2850..3179
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /note="SLIDE; Region: SLIDE; pfam09111"
                     /db_xref="CDD:204140"
     misc_feature    2973..2975
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine; propagated from
                     UniProtKB/Swiss-Prot (P28370.2); phosphorylation site"
     exon            288..374
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            375..541
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            542..642
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            643..743
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            744..923
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            924..1079
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1080..1211
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1212..1280
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1281..1390
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1391..1617
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1618..1739
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1740..1775
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1776..1928
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            1929..2061
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            2062..2210
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     variation       2080
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1134838"
     exon            2211..2330
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            2331..2441
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     STS             2363..2499
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /standard_name="MARC_12207-12208:1004716010:1"
                     /db_xref="UniSTS:267364"
     exon            2442..2555
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            2556..2678
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     variation       2623
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:34182579"
     exon            2679..2811
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            2812..2930
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            2931..3143
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            3144..3285
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     exon            3286..4086
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /inference="alignment:Splign:1.39.8"
     variation       3883
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:15261"
     polyA_signal    4059..4064
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
     polyA_site      4086
                     /gene="SMARCA1"
                     /gene_synonym="ISWI; NURF140; SNF2L; SNF2L1; SNF2LB;
                     SNF2LT; SWI; SWI2"
ORIGIN      
gcggagtgattccccacccctgctccatctagctctttccagtgcagccactgccgccgcccaggagccctcgtcccctgccttgtccccctactcgttcccgctcccacggcatggagcaggacactgccgcagtggcagccaccgtggcagccgcggatgcgaccgccactatcgtggtcatagaggacgagcagcccgggccgtccacctctcaggaggagggagcggccgccgcggccaccgaagccaccgcggccacggagaagggcgagaagaagaaggagaaaaacgtttcttcatttcaactcaaacttgctgctaaagcgcctaaatctgaaaaggaaatggacccagaatatgaagagaaaatgaaagccgaccgagcaaagagatttgaatttttactgaagcagacagaactttttgcacatttcattcagccttcagcacagaaatctccaacatctccactgaacatgaaattgggacgtccccgaataaagaaagatgaaaagcagagcttaatttctgctggagactaccgccataggcgcacagagcaagaagaagatgaagagctactgtctgagagtcggaaaacatctaatgtgtgtattagatttgaggtgtcaccttcatatgtgaaaggggggccactgagagattatcagattcgaggactgaattggttgatctctttatatgaaaatggagtcaatggcattttggctgatgaaatgggccttgggaaaactttacaaacaattgctttgcttggttacctgaaacactaccgaaatattcctggacctcacatggttttagttccaaagtctactttacacaactggatgaatgaatttaaacgatgggtcccatctctccgtgtcatttgttttgtcggagacaaggatgccagagctgcttttattcgtgatgaaatgatgccaggagagtgggatgtttgcgttacttcttatgagatggtaattaaagaaaaatctgtattcaaaaagtttcactggcgatacctggtcattgatgaagctcacagaataaagaatgaaaaatctaagctttcagagattgttcgtgagttcaagtcgactaaccgcttgctcctaactggaacacctttgcagaataacctgcatgaactgtgggccttactcaactttttattgcctgatgtctttaattctgcagatgactttgattcttggtttgacactaaaaattgtcttggtgatcaaaaactcgtggaaagacttcatgcagttttaaaaccatttttgttacgccgtataaaaactgatgtagagaagagtctgccacctaaaaaggaaataaagatttacttggggctgagtaagatgcaacgagaatggtatacaaaaatcctgatgaaagatattgatgttttaaactcttctggcaagatggacaagatgcgactcttaaacattctgatgcagcttcgaaagtgttgtaatcatccatatctgtttgatggtgctgaacctggtccaccttataccactgatgagcatattgtcagcaacagtggtaaaatggtagttctggataaactattggccaaactcaaagaacagggttcaagggttctcattttcagccagatgactcgcttgctggatattttggaagattattgcatgtggcgtggttatgagtattgtcgactggatggacaaaccccgcatgaagaaagagaggataaattcctagaagtggaatttctgggtcaaagggaagcaatagaggcttttaatgctcctaatagtagcaaattcatctttatgctaagtaccagggctggaggtctcggaattaacctggcaagtgctgatgtggttatactatatgattcagactggaacccacaggttgatctacaagctatggatcgagcacatcgtattggtcagaagaaaccagtacgtgtattccgtctcatcactgacaacactgttgaagagaggattgtagaaagagctgagataaaactgagactcgattcaattgttatacaacaaggaagactcattgaccaacagtctaacaagctggcaaaagaggaaatgttacaaatgatacggcatggagccacccatgtttttgcttctaaagagagtgagttgacagatgaagacattacaactattctggaaagaggggaaaagaagactgcagagatgaatgaacgcctgcaaaaaatgggagagtcttctctaagaaattttagaatggacattgaacaaagtttatacaaatttgagggagaagattatagagaaaaacagaagcttggcatggtggaatggattgaacctcctaaacgagaacgcaaagcaaactacgcagtggatgcctactttagagaggctttgcgtgtcagcgagccaaagattccaaaggctccacggcctccaaaacagccaaatgttcaggattttcaatttttcccaccacgcttatttgagctcctggaaaaggaaattctttattatcggaagacaataggctataaggttccaaggaatcctgatatcccaaatccagctctggctcaaagagaagagcaaaaaaagattgatggagctgaacctcttacaccagaagagactgaagaaaaggaaaaacttctcacacaaggtttcacaaactggactaaacgagattttaaccagtttattaaagctaatgagaaatatggaagagatgacattgataacatagctcgagaggtagagggcaaatcccctgaggaggtcatggagtattcagctgtattttgggaacgttgcaatgaattacaggacattgagaaaattatggctcaaattgaacgtggagaagcaagaattcaacgaaggatcagtatcaagaaagccctggatgccaaaattgcaagatacaaggctccatttcatcagttgcgcattcagtatggaaccagcaaaggaaagaactatactgaggaagaagatagattcttgatttgtatgttacacaaaatgggctttgatagagaaaatgtatatgaagaattaagacagtgtgtacgaaatgctccccagtttagatttgactggtttatcaagtctaggactgccatggaattccagagacgctgtaacactctgatttcattgattgagaaagaaaatatggaaattgaggaaagagagagagcagaaaagaagaaacgggcaactaaaactccaatggtaaaattttcagcattttcctaacttttagatttaacattgttgggccatttaaaatgtgcatattggagcagaacattaaatctgtttccattttagtcacagaaaagaaaagcagagtcagctactgagagctctggaaagaaggatgtcaagaaggtgaaatcctaaagcctagaaataaagttttaaatgggaaactgctattttcttgttcccatcttcaaatgctaattgccagttccagtgtattcatggtactctaagaaaaatctctttggttttgatttcttgcatattttatatattttacaatgctttctacctgaaatgtgtagctttatattttatggcattctagtatttttgtgtactgtattttgtgcatttcatgtcttcatcaaaatcctctcagtccttgttcttttgaagcttgtgctgaggttttagcttttctatgttttatatgccgctgctttgaaagagaacctagattctatagttgtattattgttgtttcatactttaaatttatatggctgtggaaaaacgaattaaaatgttttgaggagaaagactttttcacttctttgttgctttcttttctattgagtctgggcttgtttgtgttactgcatactgtgattagcataataattgtttctttgaggtcatctaaatatttttttcctaaaggaataaagggtgaggaaagaaaaatattaaaaaagctaatatttgatactgtgcttgctgtcagtatgcattacatttaaattattctctattcaagtgggaaaatataataaagaaatgtctataagaaatttaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:6594 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
            GeneID:6594 -> Molecular function: GO:0004386 [helicase activity] evidence: IEA
            GeneID:6594 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:6594 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
            GeneID:6594 -> Molecular function: GO:0008094 [DNA-dependent ATPase activity] evidence: IDA
            GeneID:6594 -> Molecular function: GO:0031491 [nucleosome binding] evidence: IEA
            GeneID:6594 -> Molecular function: GO:0036310 [annealing helicase activity] evidence: IDA
            GeneID:6594 -> Molecular function: GO:0070615 [nucleosome-dependent ATPase activity] evidence: IDA
            GeneID:6594 -> Biological process: GO:0000733 [DNA strand renaturation] evidence: IDA
            GeneID:6594 -> Biological process: GO:0006338 [chromatin remodeling] evidence: IDA
            GeneID:6594 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IMP
            GeneID:6594 -> Biological process: GO:0007420 [brain development] evidence: IMP
            GeneID:6594 -> Biological process: GO:0030182 [neuron differentiation] evidence: ISS
            GeneID:6594 -> Biological process: GO:0043044 [ATP-dependent chromatin remodeling] evidence: IDA
            GeneID:6594 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP
            GeneID:6594 -> Biological process: GO:2000177 [regulation of neural precursor cell proliferation] evidence: IEA
            GeneID:6594 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IEA
            GeneID:6594 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:6594 -> Cellular component: GO:0016589 [NURF complex] evidence: IDA
            GeneID:6594 -> Cellular component: GO:0090537 [CERF complex] evidence: IDA

by @meso_cacase at DBCLS
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