LOCUS       NM_001707               1663 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens BAF chromatin remodeling complex subunit BCL7B
            (BCL7B), transcript variant 1, mRNA.
ACCESSION   NM_001707
VERSION     NM_001707.4
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 1663)
  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   2  (bases 1 to 1663)
  AUTHORS   Taniuchi,K., Furihata,M., Naganuma,S., Sakaguchi,M. and Saibara,T.
  TITLE     Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts
            unfavorable prognosis compared to the TNM staging system in
            postoperative pancreatic cancer patients
  JOURNAL   PLoS One 14 (6), e0217920 (2019)
   PUBMED   31166991
  REMARK    GeneRIF: the combination of PODXL with ITGB1 and the combination of
            BCL7B with ITGB1 accurately predicted the postoperative outcomes of
            pancreatic cancer patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1663)
  AUTHORS   Gatchalian,J., Malik,S., Ho,J., Lee,D.S., Kelso,T.W.R.,
            Shokhirev,M.N., Dixon,J.R. and Hargreaves,D.C.
  TITLE     A non-canonical BRD9-containing BAF chromatin remodeling complex
            regulates naive pluripotency in mouse embryonic stem cells
  JOURNAL   Nat Commun 9 (1), 5139 (2018)
   PUBMED   30510198
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1663)
  AUTHORS   Alpsoy,A. and Dykhuizen,E.C.
  TITLE     Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its
            paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes
  JOURNAL   J Biol Chem 293 (11), 3892-3903 (2018)
   PUBMED   29374058
REFERENCE   5  (bases 1 to 1663)
  AUTHORS   Decimi,V., Fazio,G., Dell'Acqua,F., Maitz,S., Galbiati,M.,
            Rizzari,C., Biondi,A., Cazzaniga,G. and Selicorni,A.
  TITLE     Williams syndrome and mature B-Leukemia: A random association?
  JOURNAL   Eur J Med Genet 59 (12), 634-640 (2016)
   PUBMED   27771473
  REMARK    GeneRIF: We herewith propose that the BCL7B gene, located in the
            chromosomal region commonly deleted in Williams syndrome, could
            potentially have a role in this particular association.
REFERENCE   6  (bases 1 to 1663)
  AUTHORS   Jadayel,D.M., Osborne,L.R., Coignet,L.J., Zani,V.J., Tsui,L.C.,
            Scherer,S.W. and Dyer,M.J.
  TITLE     The BCL7 gene family: deletion of BCL7B in Williams syndrome
  JOURNAL   Gene 224 (1-2), 35-44 (1998)
   PUBMED   9931421
REFERENCE   7  (bases 1 to 1663)
  AUTHORS   Meng,X., Lu,X., Li,Z., Green,E.D., Massa,H., Trask,B.J.,
            Morris,C.A. and Keating,M.T.
  TITLE     Complete physical map of the common deletion region in Williams
            syndrome and identification and characterization of three novel
            genes
  JOURNAL   Hum Genet 103 (5), 590-599 (1998)
   PUBMED   9860302
REFERENCE   8  (bases 1 to 1663)
  AUTHORS   Natter,S., Seiberler,S., Hufnagl,P., Binder,B.R., Hirschl,A.M.,
            Ring,J., Abeck,D., Schmidt,T., Valent,P. and Valenta,R.
  TITLE     Isolation of cDNA clones coding for IgE autoantigens with serum IgE
            from atopic dermatitis patients
  JOURNAL   FASEB J 12 (14), 1559-1569 (1998)
   PUBMED   9806765
REFERENCE   9  (bases 1 to 1663)
  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   10 (bases 1 to 1663)
  AUTHORS   Zani,V.J., Asou,N., Jadayel,D., Heward,J.M., Shipley,J.,
            Nacheva,E., Takasuki,K., Catovsky,D. and Dyer,M.J.
  TITLE     Molecular cloning of complex chromosomal translocation
            t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line
            defines a new gene (BCL7A) with homology to caldesmon
  JOURNAL   Blood 87 (8), 3124-3134 (1996)
   PUBMED   8605326
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL553260.3, BC009548.1 and
            AW328570.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001707.3.
            
            Summary: This gene encodes a member of the BCL7 family including
            BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which
            contains a region that is highly similar to the N-terminal segment
            of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the
            gene known to be directly involved in a three-way gene
            translocation in a Burkitt lymphoma cell line. This gene is located
            at a chromosomal region commonly deleted in Williams syndrome. This
            gene is highly conserved from C. elegans to human. Multiple
            alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (1) encodes 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 :: BC000956.2, X89985.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000223368.7/ ENSP00000223368.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AL553260.3         313-364
            53-1652             BC009548.1         8-1607
            1653-1663           AW328570.1         22-32               c
FEATURES             Location/Qualifiers
     source          1..1663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1663
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /note="BAF chromatin remodeling complex subunit BCL7B"
                     /db_xref="GeneID:9275"
                     /db_xref="HGNC:HGNC:1005"
                     /db_xref="MIM:605846"
     exon            1..204
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..721
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     B-cell CLL/lymphoma 7 protein family member B; B-cell
                     CLL/lymphoma 7B; BCL tumor suppressor 7B; BCL7B, BAF
                     complex component"
                     /codon_start=1
                     /product="B-cell CLL/lymphoma 7 protein family member B
                     isoform 1"
                     /protein_id="NP_001698.2"
                     /db_xref="CCDS:CCDS5550.1"
                     /db_xref="GeneID:9275"
                     /db_xref="HGNC:HGNC:1005"
                     /db_xref="MIM:605846"
                     /translation="MSGRSVRAETRSRAKDDIKKVMAAIEKVRKWEKKWVTVGDTSLR
                     IFKWVPVTDSKEKEKSKSNSSAAREPNGFPSDASANSSLLLEFQDENSNQSSVSDVYQ
                     LKVDSSTNSSPSPQQSESLSPAHTSDFRTDDSQPPTLGQEILEEPSLPSSEVADEPPT
                     LTKEEPVPLETQVVEEEEDSGAPPLKRFCVDQPTVPQTASES"
     exon            205..280
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            281..377
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            378..548
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            549..628
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            629..1663
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /note="hexamer: ATTAAA"
     polyA_site      1663
                     /gene="BCL7B"
                     /gene_synonym="SMARCJ2"
                     /note="major polyA site"
ORIGIN      
        1 gcgacggccg ctgtgacgct gcggcggcgg cgggcgggcg gcggcgcgtg aggcgcgcga
       61 tccccggtgt cttgggagca gtgccccggc ccccgccgct cccgccgccg ccatgtcggg
      121 ccggtcggtc cgggcggaga cccgcagccg ggccaaggac gacatcaaga aggtgatggc
      181 ggccatcgag aaagtgcgga aatgggagaa gaagtgggtg actgtgggtg acacgtccct
      241 gaggatattt aagtgggttc ctgtgacaga cagcaaggag aaagaaaagt caaaatcgaa
      301 cagttcagca gcccgagaac ctaatggctt tccttctgat gcctcagcca attcctctct
      361 ccttcttgaa ttccaggacg aaaacagcaa ccagagttcc gtgtctgacg tctatcagct
      421 taaggtggac agcagcacca actcaagccc cagcccccag cagagtgagt ccctgagccc
      481 agcacacacc tccgacttcc gcacggatga ctcccagccc ccaacgctgg gccaggagat
      541 cctggaggag ccctccctgc cctcctcgga agttgctgat gaacctccta ccctcaccaa
      601 ggaagaacca gttccactag agacacaggt cgttgaggaa gaggaagact caggtgcccc
      661 gcccctgaag cgcttctgtg tggaccaacc cacagtgccg cagacggcgt cagaaagcta
      721 gcaccatccc ggccctccgc ctcctggccc tgcctctatt tattgcattc tggttctggc
      781 cgcgccgcgt tgctggggta agggcaagca ctggggtcaa gagcctgcac acatgagcct
      841 tccgggctgg aaggctggcg taggacttgg ggctgtagca tcatcttcct gaccctggca
      901 cctgtgtcta cttgctcccg agaagaggag cgctcatgtc ttttttgcac cccaagttgg
      961 ctggagcatc ggccacccca agattcatct gtgacctcca ggcagcagtc tctgctccag
     1021 aatctctgga cggagctgct ggcagcttct gcgagaagag agagatgtgg aaggcacctt
     1081 ctagaagaga gcgtgcctca ggttacttga acttgaacgg agactgtaga ctcccggact
     1141 ttcccctagg actgggggcc ctgtaggctg ctgttggagg actgggtaga gacattggag
     1201 ggaagggaag ggcttttctc cacacaaggg cagagagtcc gtctagattt cttgctgtcc
     1261 tgccagctct gcccatgcct gaggtggtcc tacctctcac gggcacccta gctgctgaca
     1321 gccctttgtg gccgccgtcc ccatcccctg ccctcagcac acacatctgc acacacgcag
     1381 ctttgttctc acctctacct gtcattccag catccctgcc tcttgtcaca aactgcccca
     1441 gcaagaattt gaggttctga caacagtacc catcccccac agtacccctt cagctcagtt
     1501 tctagaaagc tcccttttct ttgaaatctg catgttgaat tgaactttgt gattttattt
     1561 tttgtttcaa aaaagtttaa gaaaatggaa atgggcaaca gtgagtgaag acatatttta
     1621 gcactgaata gaatattttt aaaattaaac tatttgaaat atg
//
