LOCUS       NM_033030               2796 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens boule homolog, RNA binding protein (BOLL), transcript
            variant 2, mRNA.
ACCESSION   NM_033030
VERSION     NM_033030.6
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 2796)
  AUTHORS   Pal,S., Paladhi,P., Dutta,S., Mullick,R.B., Bose,G., Ghosh,P.,
            Chattopadhyay,R. and Ghosh,S.
  TITLE     Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and
            BOLL in Testis of Azoospermic Men from West Bengal, India
  JOURNAL   Reprod Sci 31 (4), 1069-1088 (2024)
   PUBMED   37957469
  REMARK    GeneRIF: Novel Mutations Reduce Expression of Meiotic Regulators
            SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal,
            India.
REFERENCE   2  (bases 1 to 2796)
  AUTHORS   Zhang,W., Chen,W., Cui,Y., Wen,L., Yuan,Q., Zhou,F., Qiu,Q.,
            Sun,M., Li,Z. and He,Z.
  TITLE     Direct reprogramming of human Sertoli cells into male germline stem
            cells with the self-renewal and differentiation potentials via
            overexpressing DAZL/DAZ2/BOULE genes
  JOURNAL   Stem Cell Reports 16 (11), 2798-2812 (2021)
   PUBMED   34653405
  REMARK    GeneRIF: Direct reprogramming of human Sertoli cells into male
            germline stem cells with the self-renewal and differentiation
            potentials via overexpressing DAZL/DAZ2/BOULE genes.
REFERENCE   3  (bases 1 to 2796)
  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   4  (bases 1 to 2796)
  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   5  (bases 1 to 2796)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2796)
  AUTHORS   Kuo,P.L., Wang,S.T., Lin,Y.M., Lin,Y.H., Teng,Y.N. and Hsu,C.C.
  TITLE     Expression profiles of the DAZ gene family in human testis with and
            without spermatogenic failure
  JOURNAL   Fertil Steril 81 (4), 1034-1040 (2004)
   PUBMED   15066460
  REMARK    GeneRIF: Role in spermatogenesis. Decreased DAZ proteins in
            spermatogenic failure may be due to germ cell loss. Transcription
            of BOULE, DAZL, and DAZ not altered in degrees of spermatogenic
            failure. No increase of DAZL or BOULE found in DAZ deletion.
REFERENCE   7  (bases 1 to 2796)
  AUTHORS   Moore,F.L., Jaruzelska,J., Fox,M.S., Urano,J., Firpo,M.T.,
            Turek,P.J., Dorfman,D.M. and Pera,R.A.
  TITLE     Human Pumilio-2 is expressed in embryonic stem cells and germ cells
            and interacts with DAZ (Deleted in AZoospermia) and DAZ-like
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 100 (2), 538-543 (2003)
   PUBMED   12511597
REFERENCE   8  (bases 1 to 2796)
  AUTHORS   Xu,E.Y., Lee,D.F., Klebes,A., Turek,P.J., Kornberg,T.B. and Reijo
            Pera,R.A.
  TITLE     Human BOULE gene rescues meiotic defects in infertile flies
  JOURNAL   Hum Mol Genet 12 (2), 169-175 (2003)
   PUBMED   12499397
  REMARK    GeneRIF: BOULE may encode a key conserved switch that regulates
            progression of germ cells through meiosis in men.
REFERENCE   9  (bases 1 to 2796)
  AUTHORS   Xu,E.Y., Moore,F.L. and Pera,R.A.
  TITLE     A gene family required for human germ cell development evolved from
            an ancient meiotic gene conserved in metazoans
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7414-7419 (2001)
   PUBMED   11390979
REFERENCE   10 (bases 1 to 2796)
  AUTHORS   Eberhart,C.G., Maines,J.Z. and Wasserman,S.A.
  TITLE     Meiotic cell cycle requirement for a fly homologue of human Deleted
            in Azoospermia
  JOURNAL   Nature 381 (6585), 783-785 (1996)
   PUBMED   8657280
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK058099.1 and BC033674.1.
            
            On Jun 2, 2019 this sequence version replaced NM_033030.5.
            
            Summary: This gene belongs to the DAZ gene family required for germ
            cell development. It encodes an RNA-binding protein which is more
            similar to Drosophila Boule than to human proteins encoded by genes
            DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like).
            Loss of this gene function results in the absence of sperm in semen
            (azoospermia). Histological studies demonstrated that the primary
            defect is at the meiotic G2/M transition. Two alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) has an alternate 5' exon and
            uses a downstream in-frame start codon, as compared to variant 1.
            The encoded isoform 2 has a shorter N-terminus, as compared to
            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 :: BC033674.1, AK098824.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392296.9/ ENSP00000376116.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1439              AK058099.1         32-1470
            1440-2796           BC033674.1         1423-2779
FEATURES             Location/Qualifiers
     source          1..2796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2796
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="boule homolog, RNA binding protein"
                     /db_xref="GeneID:66037"
                     /db_xref="HGNC:HGNC:14273"
                     /db_xref="MIM:606165"
     exon            1..264
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            265..408
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..1131
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="isoform 2 is encoded by transcript variant 2; bol,
                     boule-like; boule-like RNA binding protein; boule-like
                     protein"
                     /codon_start=1
                     /product="protein boule-like isoform 2"
                     /protein_id="NP_149019.1"
                     /db_xref="CCDS:CCDS2325.1"
                     /db_xref="GeneID:66037"
                     /db_xref="HGNC:HGNC:14273"
                     /db_xref="MIM:606165"
                     /translation="MQTDSLSPSPNPVSPVPLNNPTSAPRYGTVIPNRIFVGGIDFKT
                     NESDLRKFFSQYGSVKEVKIVNDRAGVSKGYGFVTFETQEDAQKILQEAEKLNYKDKK
                     LNIGPAIRKQQVGIPRSSIMPAAGTMYLTTSTGYPYTYHNGVAYFHTPEVTSVPPPWP
                     SRSVCSSPVMVAQPIYQQPAYHYQATTQYLPGQWQWSVPQPSASSAPFLYLQPSEVIY
                     QPVEIAQDGGCVPPPLSLMETSVPEPYSDHGVQATYHQVYAPSAITMPAPVMQPEPIK
                     TVWSIHY"
     exon            409..500
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            501..555
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            556..631
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            632..759
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            760..831
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            832..879
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1008
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1107
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..2796
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="hexamer: AATAAT"
     polyA_site      1438
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="major polyA site"
     regulatory      1825..1830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="hexamer: ATTAAA"
     polyA_site      1856
                     /gene="BOLL"
                     /gene_synonym="BOULE"
     regulatory      2770..2775
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLL"
                     /gene_synonym="BOULE"
                     /note="hexamer: AATAAA"
     polyA_site      2796
                     /gene="BOLL"
                     /gene_synonym="BOULE"
ORIGIN      
        1 agctgcgcac gaggccagcg gcggggtcgc tgccgttgag gcttcccgcc actgctgctg
       61 gcggatttgt ggggcaaaat ttctcgctgg ctagccttct tttccctccc gcactttggt
      121 ggggaggggg tggatcctcg tttcggtgcc caagttcacg atgacccgag agaactcgag
      181 gaagttgtcg ccgcggccat ttcccccagt gccgcaactt gctggccttg gagggggagg
      241 agcgccgagg cagtgactgc gacgcaaaca tcaaaccaga tgcaaacaga ttcattatct
      301 ccatccccta atcctgtgtc acctgtgcct ttgaataacc caacaagtgc cccaagatat
      361 ggaacagtga tccctaatcg catctttgta ggaggaattg attttaagac aaacgaaagt
      421 gatttaagaa aatttttttc ccagtatggg tctgtgaaag aagtgaagat tgtaaatgac
      481 agagctggag tatccaaagg gtatggtttc gtcacttttg aaacacaaga agatgcacaa
      541 aaaattttac aagaggctga aaaacttaat tataaggata agaagctgaa cattggtcca
      601 gcaataagaa aacaacaagt agggatccct cgttctagta taatgccagc agctggaaca
      661 atgtatctaa caacttcaac tggatatcct tatacttacc ataatggtgt tgcttatttt
      721 catactccag aggtaacttc ggtcccaccg ccttggcctt cacgttctgt atgtagctcc
      781 cctgtgatgg tagctcagcc catttatcag caacctgcat atcactacca ggccaccaca
      841 cagtatttac caggacagtg gcagtggagt gttcctcagc cttctgcctc ttctgctcca
      901 ttcttatacc tgcaaccttc tgaggttatt tatcaaccag tggaaattgc acaggatggt
      961 ggatgtgttc ctcctccact gtctctgatg gaaacttcag ttccagagcc ttattctgat
     1021 catggagttc aagcaacata tcaccaggtt tatgctccaa gtgccatcac tatgcctgcg
     1081 cctgtgatgc agcctgagcc aattaaaaca gtgtggagca ttcattatta agacaattgg
     1141 gcagctctat tccagctcaa ctgatttctt gtccaatgat ccttgcgtgg ccgagatcca
     1201 gcttcaacga accagctaga agctgcccgt tgtgaaactt agtgttagtt aatacctcac
     1261 catactcagt tattccacta taagctgtct aaatttgatg aaatttgctt tttcagctgt
     1321 tctacaaaat tatttaggta gatgtggcat gttggttttt tatgtgctaa cctaactgta
     1381 atgacctttt ctacaacatg ttttatccat tccataaata ataaccacat tgggaatagt
     1441 gaggtgtctt ttattttctc tgctttgtgt tattttttct tatcaaacaa ttagatgtta
     1501 tgtttcatat tatttgatat ttattttcat atttaggata agaatcattt ttaattataa
     1561 tacttttaat actttcatat attttacaac agtatactat ttaatattaa tgacaattct
     1621 atttttgctt tgctgttttg tcatttaata tgcttttgtc taatttttaa ttcatttatt
     1681 actgttactc cttatttaat tttgcgtctg ccatggtttt cagaatctga atagtattta
     1741 tacttctttt ttataacatt ttccaaatat tagaaatacc atcaacatga tcagtattct
     1801 tgccttttca tgtaatttga ctatattaaa ttttttctcc agtgtttgag acaatattga
     1861 aatcttccta taacataatt tatttggtat caaattttat aaaatatgga tccacctttg
     1921 gaattttgat aaaagggttc atctctgaca tgatcccata acactgactg aaattccacc
     1981 aaattactgt tctttgaatg ctttaatcct taaacctttt cttctgatat gcaaccaata
     2041 tattcaatta tatatgtgat taatttttaa aaggacaatt gttttcataa aatgcaaaac
     2101 tattttttac accaaaggaa aattttagat tctgattcta aatccgattt ttactataaa
     2161 attggaaaat agatgggagg ggtgtcattc attgttcaaa aggtacagaa caaatcatag
     2221 gggtttttaa tctctaaaat ttctacagta gtacaggaaa tattcctctt tacattcatt
     2281 tgcagttctt tcactgacct cctaatttta ggtggagggg gcagggggag ccataaaagt
     2341 tggtattacc ctaataaatc tatctctttc ctcccctgtt tcaaccccac atgtattcca
     2401 tgctcagcag cagcagcaga aatagtagga tatagatcac aaaggttttt ctggtgagtc
     2461 aaatagggtg ttttcttttg aaactgtaat gaatatgttt gccagtcaaa tggcttcatg
     2521 agaacagtag aaccttatga atgtatacta gcatacaagg atctcaaata cattaattat
     2581 tctcagtttt aggaatgtaa atagattaag tcccacaatg aaatttcaga agtttttgtt
     2641 ctgtaagtaa aaaattacta accactgatg ttcaagattt tcttttaata gcactatcct
     2701 tgagaaccaa aaagtttatg ttttgatttt caaatgttaa acaagatgct aaacaaatcc
     2761 tggactgtta ataaaaatta attatgtatt attgga
//
