LOCUS       NM_001256447            1284 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens B cell receptor associated protein 31 (BCAP31),
            transcript variant 4, mRNA.
ACCESSION   NM_001256447 NR_024450
VERSION     NM_001256447.2
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 1284)
  AUTHORS   Jiang,X., Li,G., Zhu,B., Yang,J., Cui,S., Jiang,R. and Wang,B.
  TITLE     p20BAP31 Induces Autophagy in Colorectal Cancer Cells by Promoting
            PERK-Mediated ER Stress
  JOURNAL   Int J Mol Sci 25 (10), 5101 (2024)
   PUBMED   38791141
  REMARK    GeneRIF: p20BAP31 Induces Autophagy in Colorectal Cancer Cells by
            Promoting PERK-Mediated ER Stress.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1284)
  AUTHORS   Namusamba,M., Wu,Y., Yang,J., Zhang,Q., Wang,C., Wang,T. and
            Wang,B.
  TITLE     BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in
            Neuroblastoma
  JOURNAL   Int J Mol Sci 25 (5), 2946 (2024)
   PUBMED   38474195
  REMARK    GeneRIF: BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in
            Neuroblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1284)
  AUTHORS   Liu,Y.P., Guo,G., Ren,M., Li,Y.R., Guo,D., She,J.J. and He,S.X.
  TITLE     NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting
            BCAP31 to activate PI3K/AKT signaling
  JOURNAL   J Biochem Mol Toxicol 38 (2), e23647 (2024)
   PUBMED   38348718
  REMARK    GeneRIF: NDC1 promotes hepatocellular carcinoma tumorigenesis by
            targeting BCAP31 to activate PI3K/AKT signaling.
REFERENCE   4  (bases 1 to 1284)
  AUTHORS   Corzo,D., Gibson,W., Johnson,K., Mitchell,G., LePage,G., Cox,G.F.,
            Casey,R., Zeiss,C., Tyson,H., Cutting,G.R., Raymond,G.V.,
            Smith,K.D., Watkins,P.A., Moser,A.B., Moser,H.W. and Steinberg,S.J.
  TITLE     Contiguous deletion of the X-linked adrenoleukodystrophy gene
            (ABCD1) and DXS1357E: a novel neonatal phenotype similar to
            peroxisomal biogenesis disorders
  JOURNAL   Am J Hum Genet 70 (6), 1520-1531 (2002)
   PUBMED   11992258
  REMARK    GeneRIF: Contiguous deletion of the X-linked adrenoleukodystrophy
            gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to
            peroxisomal biogenesis disorders.
REFERENCE   5  (bases 1 to 1284)
  AUTHORS   Granville,D.J., Carthy,C.M., Jiang,H., Shore,G.C., McManus,B.M. and
            Hunt,D.W.
  TITLE     Rapid cytochrome c release, activation of caspases 3, 6, 7 and 8
            followed by Bap31 cleavage in HeLa cells treated with photodynamic
            therapy
  JOURNAL   FEBS Lett 437 (1-2), 5-10 (1998)
   PUBMED   9804161
REFERENCE   6  (bases 1 to 1284)
  AUTHORS   Annaert,W.G., Becker,B., Kistner,U., Reth,M. and Jahn,R.
  TITLE     Export of cellubrevin from the endoplasmic reticulum is controlled
            by BAP31
  JOURNAL   J Cell Biol 139 (6), 1397-1410 (1997)
   PUBMED   9396746
REFERENCE   7  (bases 1 to 1284)
  AUTHORS   Ng,F.W., Nguyen,M., Kwan,T., Branton,P.E., Nicholson,D.W.,
            Cromlish,J.A. and Shore,G.C.
  TITLE     p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in
            the endoplasmic reticulum
  JOURNAL   J Cell Biol 139 (2), 327-338 (1997)
   PUBMED   9334338
REFERENCE   8  (bases 1 to 1284)
  AUTHORS   Li,E., Bestagno,M. and Burrone,O.
  TITLE     Molecular cloning and characterization of a transmembrane surface
            antigen in human cells
  JOURNAL   Eur J Biochem 238 (3), 631-638 (1996)
   PUBMED   8706661
REFERENCE   9  (bases 1 to 1284)
  AUTHORS   Adachi,T., Schamel,W.W., Kim,K.M., Watanabe,T., Becker,B.,
            Nielsen,P.J. and Reth,M.
  TITLE     The specificity of association of the IgD molecule with the
            accessory proteins BAP31/BAP29 lies in the IgD transmembrane
            sequence
  JOURNAL   EMBO J 15 (7), 1534-1541 (1996)
   PUBMED   8612576
REFERENCE   10 (bases 1 to 1284)
  AUTHORS   Mosser,J., Sarde,C.O., Vicaire,S., Yates,J.R. and Mandel,J.L.
  TITLE     A new human gene (DXS1357E) with ubiquitous expression, located in
            Xq28 adjacent to the adrenoleukodystrophy gene
  JOURNAL   Genomics 22 (2), 469-471 (1994)
   PUBMED   7806238
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA134013.1, U52111.3,
            BC065292.1 and AI123868.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001256447.1.
            
            Summary: This gene encodes a member of the B-cell receptor
            associated protein 31 superfamily. The encoded protein is a
            multi-pass transmembrane protein of the endoplasmic reticulum that
            is involved in the anterograde transport of membrane proteins from
            the endoplasmic reticulum to the Golgi and in caspase 8-mediated
            apoptosis. Microdeletions in this gene are associated with
            contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal
            disorder. Alternative splicing of this gene results in multiple
            transcript variants. Two related pseudogenes have been identified
            on chromosome 16. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (b) is
            shorter at the N-terminus, compared to isoform a. Variants 2, 3 and
            4 all encode isoform b.
            
            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 :: SRR1163655.488730.1,
                                           SRR7410570.694409.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2162841
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345046.12/ ENSP00000343458.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA134013.1         360-371
            13-13               U52111.3           107584-107584       c
            14-19               DA134013.1         373-378
            20-1275             BC065292.1         1-1256
            1276-1284           AI123868.1         5-13                c
FEATURES             Location/Qualifiers
     source          1..1284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1284
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /note="B cell receptor associated protein 31"
                     /db_xref="GeneID:10134"
                     /db_xref="HGNC:HGNC:16695"
                     /db_xref="MIM:300398"
     exon            1..54
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            55..190
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..839
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /note="isoform b is encoded by transcript variant 4;
                     BCR-associated protein Bap31; p28 Bap31; 6C6-AG
                     tumor-associated antigen"
                     /codon_start=1
                     /product="B-cell receptor-associated protein 31 isoform b"
                     /protein_id="NP_001243376.1"
                     /db_xref="CCDS:CCDS14727.1"
                     /db_xref="GeneID:10134"
                     /db_xref="HGNC:HGNC:16695"
                     /db_xref="MIM:300398"
                     /translation="MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELL
                     VSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRN
                     LYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKG
                     AAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEG
                     LTKEYDRLLEEHAKLQAAVDGPMDKKEE"
     exon            191..291
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            292..439
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            440..575
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            576..699
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            700..800
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     exon            801..1284
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1257..1262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /note="hexamer: AATAAA"
     polyA_site      1284
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DDCH; DELXQ28;
                     DXS1357E; MICRODELXq28"
                     /note="major polyA site"
ORIGIN      
        1 gtgggagagt tctgttgctg cggcggggcc tgcacgttga ctgtgggaaa ctcggaaaca
       61 agctcacatc ttcctgtggg aaaccttcta gcaacaggat gagtctgcag tggactgcag
      121 ttgccacctt cctctatgcg gaggtctttg ttgtgttgct tctctgcatt cccttcattt
      181 ctcctaaaag atggcagaag attttcaagt cccggctggt ggagttgtta gtgtcctatg
      241 gcaacacctt ctttgtggtt ctcattgtca tccttgtgct gttggtcatc gatgccgtgc
      301 gcgaaattcg gaagtatgat gatgtgacgg aaaaggtgaa cctccagaac aatcccgggg
      361 ccatggagca cttccacatg aagcttttcc gtgcccagag gaatctctac attgctggct
      421 tttccttgct gctgtccttc ctgcttagac gcctggtgac tctcatttcg cagcaggcca
      481 cgctgctggc ctccaatgaa gcctttaaaa agcaggcgga gagtgctagt gaggcggcca
      541 agaagtacat ggaggagaat gaccagctca agaagggagc tgctgttgac ggaggcaagt
      601 tggatgtcgg gaatgctgag gtgaagttgg aggaagagaa caggagcctg aaggctgacc
      661 tgcagaagct aaaggacgag ctggccagca ctaagcaaaa actagagaaa gctgaaaacc
      721 aggttctggc catgcggaag cagtctgagg gcctcaccaa ggagtacgac cgcttgctgg
      781 aggagcacgc aaagctgcag gctgcagtag atggtcccat ggacaagaag gaagagtaag
      841 ggcctccttc ctcccctgcc tgcagctggc ttccacctgg cacgtgcctg ctgcttcctg
      901 agagcccggc ctctccctcc agtacttctg tttgtgccct tctgcttccc ccattccctt
      961 ccacagctca tagctcgtca tctcggccct tgtccacact ctccaagcac attacagggg
     1021 acctgattgc tacacgttca gaatgcgttt gctgtcatcc tgcttggcct ggccaggcct
     1081 ggcacagcct tggcttccac gcctgagcgt ggagagcacg agttagttgt agtccggctt
     1141 gcggtggggc tgacttcctg ttggtttgag cccctttttg ttttgccctc tgggtgtttt
     1201 ctttggtccc gcaggagggt gggtggagca ggtggactgg agtttctctt gagggcaata
     1261 aaagttgtca tggtgtgtac gtgg
//
