LOCUS       NM_006698               2018 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens BLCAP apoptosis inducing factor (BLCAP), transcript
            variant 1, mRNA.
ACCESSION   NM_006698
VERSION     NM_006698.4
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 2018)
  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 2018)
  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   3  (bases 1 to 2018)
  AUTHORS   Zheng,L., Zhang,Y., Fu,Y., Gong,H., Guo,J., Wu,K., Jia,Q. and
            Ding,X.
  TITLE     Long non-coding RNA MALAT1 regulates BLCAP mRNA expression through
            binding to miR-339-5p and promotes poor prognosis in breast cancer
  JOURNAL   Biosci Rep 39 (2) (2019)
   PUBMED   30683807
  REMARK    GeneRIF: MALAT1 regulates BLCAP mRNA expression through binding to
            miR-339-5p.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2018)
  AUTHORS   Gromova,I., Svensson,S., Gromov,P. and Moreira,J.M.A.
  TITLE     Identification of BLCAP as a novel STAT3 interaction partner in
            bladder cancer
  JOURNAL   PLoS One 12 (11), e0188827 (2017)
   PUBMED   29190807
  REMARK    GeneRIF: data indicates that Blcap is a novel Stat3 interaction
            partner and suggests a role for Blcap in the Stat3-mediated
            progression of precancerous lesions to invasive tumors of the
            bladder
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2018)
  AUTHORS   Galeano,F., Leroy,A., Rossetti,C., Gromova,I., Gautier,P.,
            Keegan,L.P., Massimi,L., Di Rocco,C., O'Connell,M.A. and Gallo,A.
  TITLE     Human BLCAP transcript: new editing events in normal and cancerous
            tissues
  JOURNAL   Int J Cancer 127 (1), 127-137 (2010)
   PUBMED   19908260
  REMARK    GeneRIF: observed a general decrease in BLCAP-editing level in
            astrocytomas, bladder cancer and colorectal cancer when compared
            with the related normal tissues
REFERENCE   6  (bases 1 to 2018)
  AUTHORS   Schulz,R., McCole,R.B., Woodfine,K., Wood,A.J., Chahal,M., Monk,D.,
            Moore,G.E. and Oakey,R.J.
  TITLE     Transcript- and tissue-specific imprinting of a tumour suppressor
            gene
  JOURNAL   Hum Mol Genet 18 (1), 118-127 (2009)
   PUBMED   18836209
  REMARK    GeneRIF: Blcap is imprinted in mouse and human brain, but not in
            other mouse tissues.
REFERENCE   7  (bases 1 to 2018)
  AUTHORS   Levanon,E.Y., Hallegger,M., Kinar,Y., Shemesh,R.,
            Djinovic-Carugo,K., Rechavi,G., Jantsch,M.F. and Eisenberg,E.
  TITLE     Evolutionarily conserved human targets of adenosine to inosine RNA
            editing
  JOURNAL   Nucleic Acids Res 33 (4), 1162-1168 (2005)
   PUBMED   15731336
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2018)
  AUTHORS   Ratliff,T.L.
  TITLE     bc10: a novel human bladder cancer-associated protein with a
            conserved genomic structure downregulated in invasive cancer
  JOURNAL   J Urol 168 (2), 884-885 (2002)
   PUBMED   12136878
REFERENCE   9  (bases 1 to 2018)
  AUTHORS   Gromova,I., Gromov,P. and Celis,J.E.
  TITLE     bc10: A novel human bladder cancer-associated protein with a
            conserved genomic structure downregulated in invasive cancer
  JOURNAL   Int J Cancer 98 (4), 539-546 (2002)
   PUBMED   11920613
REFERENCE   10 (bases 1 to 2018)
  AUTHORS   Gromova,I., Gromov,P. and Celis,J.E.
  TITLE     Identification of true differentially expressed mRNAs in a pair of
            human bladder transitional cell carcinomas using an improved
            differential display procedure
  JOURNAL   Electrophoresis 20 (2), 241-248 (1999)
   PUBMED   10197429
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA262965.1, BC047692.1,
            BC071704.1 and AA780553.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006698.3.
            
            Summary: This gene encodes a protein that reduces cell growth by
            stimulating apoptosis. Alternative splicing and the use of
            alternative promoters result in multiple transcript variants
            encoding the same protein. This gene is imprinted in brain where
            different transcript variants are expressed from each parental
            allele. Transcript variants initiating from the upstream promoter
            are expressed preferentially from the maternal allele, while
            transcript variants initiating downstream of the interspersed NNAT
            gene (GeneID:4826) are expressed from the paternal allele.
            Transcripts at this locus may also undergo A to I editing,
            resulting in amino acid changes at three positions in the
            N-terminus of the protein. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1, also known as V1a) is the
            predominant transcript. This variant may be expressed predominantly
            from the maternal allele in brain (PMID:18836209). Variants 1 to 7
            all encode the same protein.
            
            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 :: SRR1660807.215038.1,
                                           SRR3476690.620145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 18836209
            MANE Ensembl match     :: ENST00000373537.7/ ENSP00000362637.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            undergoes RNA editing  :: PMID: 19908260
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA262965.1         56-69
            15-1256             BC047692.1         1-1242
            1257-1300           BC071704.1         1237-1280
            1301-1685           BC047692.1         1287-1671
            1686-1692           AA780553.1         326-332             c
            1693-2018           BC047692.1         1679-2004
FEATURES             Location/Qualifiers
     source          1..2018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..2018
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /note="BLCAP apoptosis inducing factor"
                     /db_xref="GeneID:10904"
                     /db_xref="HGNC:HGNC:1055"
                     /db_xref="MIM:613110"
     exon            1..84
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /inference="alignment:Splign:2.1.0"
     exon            85..2018
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /inference="alignment:Splign:2.1.0"
     CDS             261..524
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /note="bladder cancer related protein (10kD); bladder
                     cancer associated protein"
                     /codon_start=1
                     /product="apoptosis inducing factor BLCAP"
                     /protein_id="NP_006689.1"
                     /db_xref="CCDS:CCDS13295.1"
                     /db_xref="GeneID:10904"
                     /db_xref="HGNC:HGNC:1055"
                     /db_xref="MIM:613110"
                     /translation="MYCLQWLLPVLLIPKPLNPALWFSHSMFMGFYLLSFLLERKPCT
                     ICALVFLAALFLICYSCWGNCFLYHCSDSPLPESAHDPGVVGT"
     regulatory      1998..2003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /note="hexamer: AATAAA"
     polyA_site      2018
                     /gene="BLCAP"
                     /gene_synonym="BC10"
                     /note="major polyA site"
ORIGIN      
        1 cctgcggcgt cggtggcgag ctgaggtgga ggcaggctgc ggcagacggc gacagtggcg
       61 gcggcgccat ggcagggctt gcaggatccc tgctgccttg gtgatcccgg gctgacagcc
      121 agagagcaca gcggctcagc tcctggagag tgagggttga agaaagcgga gggcagccgc
      181 ctgcgcccgc tggctcccat taggtcggtt cctgcagcgg tgcccggcag ccttggtgaa
      241 ggccctgccc ggcagagatc atgtattgcc tccagtggct gctgcccgtc ctcctcatcc
      301 ccaagcccct caaccccgcc ctgtggttca gccactccat gttcatgggc ttctacctgc
      361 tcagcttcct cctggaacgg aagccttgca caatttgtgc cttggttttc ctggcagccc
      421 tgttccttat ctgctatagc tgctggggaa actgtttcct gtaccactgc tccgattccc
      481 cgcttccaga atcggcgcat gatcccggcg ttgtgggcac ctaacggcct gccctgttag
      541 ctttccaagg aagcagaaga cgggagggga ggcattgaca taggtcataa agcattggag
      601 tttcaaatcc cgcagcctcg cgggtgtcac attcctgacg gcgccttttt ggcctgtgat
      661 gttttatcct tacaatgtga ataatggcac tgaccggtgc ttttattgta aagtcctata
      721 gtcgtgggtg gtcttgtggt tgtgtgtgtt ctgtccccat ctaggtcctg gctggccgca
      781 tgaccacccc tctcgcctca ttactgtgag gagtctgggt ccatcctggt cagctgcccc
      841 aatgtgacct ggggcagata aaatgccagt ctcattgtca cctctgtgac ccctccttgt
      901 cagggtctcc ttccttccca gaatgttact gactcctcag tccctcttct ggtttccctt
      961 tatttctctt ctaccctttt ccttttttgg ggagtacctg tccaagacag ggctcatttt
     1021 tgcacttatc tcgaatttga agagattgct gacgcccgag agcctcgctt tttcatcctt
     1081 ctttccttgt tcagcaggct agacagaaac atgtcttgac tgttagttgt ccacaaatct
     1141 tcagtatttt ctccacttca tttttaagaa aggaagcaac agatagatgt tgctctttca
     1201 cctgggtgtc tgggctcaag ctttcccgcc cagcctcact tcctttgccc ttcctcctgc
     1261 ctttctcaac tgtcccaagg agggggcctc attgtgtctc ccgtgcatgc tctgcagcat
     1321 tgaagtatgg tgtgttcacg tagttctagc agtccccagc tgagtgagtg ggagagtacc
     1381 tgtgtgtttc gtaacggcct tgatcccctt gatagatgtt tggatatttt ttggtgtgcc
     1441 ctgtgtgtgt gtgtgtacaa atacatgtgt atattccttt taaagaagct ttatcgaacg
     1501 tggtctgatt ttgaggttta gcaatagcta gctatatatg gtaggtgccg ctacagtttt
     1561 tatttagcat ggggattgca gagtgaccag cacactggac tccgaggtgg ttcagacaag
     1621 acagagggga gcagtggcca tcatcctccc gccaggagct tcttcgttcc tgcgcatata
     1681 gactgtacat tatgaagaat acccaggaag actttgtgac tgtcacttgc tgctttttct
     1741 gcgcttcagt aacaagtgtt ggcaaacgag actttctcct ggcccctgcc tgctggagat
     1801 cagcatgcct gtcctttcag tctgatccat ccatctctct cttgcctgag gggaaagaga
     1861 gatgggccag gcagagaaca gaactggagg cagtccatct agggaatggg actgtgaggc
     1921 catacttgtg aaacgtctgg actgctattc tagagctttt atttggtgtg ttcgttgcac
     1981 agctgtttga aatgtttaat aaagctttat aaacttta
//
