GGRNA Home | Help | Advanced search

2020-10-26 19:31:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001139441            1346 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens B-cell receptor-associated protein 31 (BCAP31),
            transcript variant 3, mRNA.
ACCESSION   NM_001139441
VERSION     NM_001139441.1  GI:213511011
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 1346)
  AUTHORS   Gajate,C., Matos-da-Silva,M., Dakir,el.-H., Fonteriz,R.I.,
            Alvarez,J. and Mollinedo,F.
  TITLE     Antitumor alkyl-lysophospholipid analog edelfosine induces
            apoptosis in pancreatic cancer by targeting endoplasmic reticulum
  JOURNAL   Oncogene 31 (21), 2627-2639 (2012)
   PUBMED   22056873
REFERENCE   2  (bases 1 to 1346)
  AUTHORS   Grimm,S.
  TITLE     The ER-mitochondria interface: the social network of cell death
  JOURNAL   Biochim. Biophys. Acta 1823 (2), 327-334 (2012)
   PUBMED   22182703
  REMARK    Review article
REFERENCE   3  (bases 1 to 1346)
  AUTHORS   Geiger,R., Andritschke,D., Friebe,S., Herzog,F., Luisoni,S.,
            Heger,T. and Helenius,A.
  TITLE     BAP31 and BiP are essential for dislocation of SV40 from the
            endoplasmic reticulum to the cytosol
  JOURNAL   Nat. Cell Biol. 13 (11), 1305-1314 (2011)
   PUBMED   21947079
  REMARK    GeneRIF: BAP31 and BiP are essential for dislocation of SV40 from
            the endoplasmic reticulum to the cytosol.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 1346)
  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 DA819112.1, CX164660.1,
            BC065292.1 and AI123868.1.
            
            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 (3) 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##
            CDS exon combination :: BC014323.1, BG675126.1 [ECO:0000331]
            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
            1-46                DA819112.1         224-269
            47-838              CX164660.1         1-792
            839-1333            BC065292.1         762-1256
            1334-1346           AI123868.1         1-13                c
FEATURES             Location/Qualifiers
     source          1..1346
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1346
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /note="B-cell receptor-associated protein 31"
                     /db_xref="GeneID:10134"
                     /db_xref="HGNC:16695"
                     /db_xref="MIM:300398"
     exon            1..112
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    112..114
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /note="upstream in-frame stop codon"
     exon            113..248
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     CDS             157..897
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /note="isoform b is encoded by transcript variant 3;
                     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_001132913.1"
                     /db_xref="GI:213511012"
                     /db_xref="CCDS:CCDS14727.1"
                     /db_xref="GeneID:10134"
                     /db_xref="HGNC:16695"
                     /db_xref="MIM:300398"
                     /translation="
MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE
"
     misc_feature    157..828
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /note="B-cell receptor-associated protein 31-like; Region:
                     Bap31; pfam05529"
                     /db_xref="CDD:203268"
     misc_feature    175..237
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P51572.3);
                     transmembrane region"
     misc_feature    286..348
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P51572.3);
                     transmembrane region"
     misc_feature    463..525
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P51572.3);
                     transmembrane region"
     misc_feature    646..651
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Cleavage, by caspase-8 (Potential); propagated from
                     UniProtKB/Swiss-Prot (P51572.3); cleavage site"
     misc_feature    868..873
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Cleavage, by caspase-8 (Potential); propagated from
                     UniProtKB/Swiss-Prot (P51572.3); cleavage site"
     misc_feature    883..894
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P51572.3);
                     Region: Di-lysine motif"
     exon            249..349
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     exon            350..497
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     variation       357
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11537725"
     variation       481
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11537726"
     exon            498..633
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     variation       537
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11537730"
     variation       561
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11537731"
     exon            634..757
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     exon            758..858
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     exon            859..1342
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /inference="alignment:Splign:1.39.8"
     STS             885..1080
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /standard_name="RH79936"
                     /db_xref="UniSTS:88296"
     variation       919
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11537732"
     STS             1029..1258
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /standard_name="RH77716"
                     /db_xref="UniSTS:88176"
     variation       1064
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11537728"
     variation       1124
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1064720"
     variation       1155
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:13126"
     STS             1167..1322
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
                     /standard_name="DXS7452"
                     /db_xref="UniSTS:99348"
     polyA_signal    1315..1320
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
     polyA_site      1342
                     /gene="BCAP31"
                     /gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
ORIGIN      
gaagccccacctggaggagcggccgggatgggcctccgggacggtgtgccaggccggggccaagtcggaggcccctcgctctgggtgggcgctggggcccgcgagggctactgaaacaagctcacatcttcctgtgggaaaccttctagcaacaggatgagtctgcagtggactgcagttgccaccttcctctatgcggaggtctttgttgtgttgcttctctgcattcccttcatttctcctaaaagatggcagaagattttcaagtcccggctggtggagttgttagtgtcctatggcaacaccttctttgtggttctcattgtcatccttgtgctgttggtcatcgatgccgtgcgcgaaattcggaagtatgatgatgtgacggaaaaggtgaacctccagaacaatcccggggccatggagcacttccacatgaagcttttccgtgcccagaggaatctctacattgctggcttttccttgctgctgtccttcctgcttagacgcctggtgactctcatttcgcagcaggccacgctgctggcctccaatgaagcctttaaaaagcaggcggagagtgctagtgaggcggccaagaagtacatggaggagaatgaccagctcaagaagggagctgctgttgacggaggcaagttggatgtcgggaatgctgaggtgaagttggaggaagagaacaggagcctgaaggctgacctgcagaagctaaaggacgagctggccagcactaagcaaaaactagagaaagctgaaaaccaggttctggccatgcggaagcagtctgagggcctcaccaaggagtacgaccgcttgctggaggagcacgcaaagctgcaggctgcagtagatggtcccatggacaagaaggaagagtaagggcctccttcctcccctgcctgcagctggcttccacctggcacgtgcctgctgcttcctgagagcccggcctctccctccagtacttctgtttgtgcccttctgcttcccccattcccttccacagctcatagctcgtcatctcggcccttgtccacactctccaagcacattacaggggacctgattgctacacgttcagaatgcgtttgctgtcatcctgcttggcctggccaggcctggcacagccttggcttccacgcctgagcgtggagagcacgagttagttgtagtccggcttgcggtggggctgacttcctgttggtttgagcccctttttgttttgccctctgggtgttttctttggtcccgcaggagggtgggtggagcaggtggactggagtttctcttgagggcaataaaagttgtcatggtgtgtacgtggaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:10134 -> Molecular function: GO:0005102 [receptor binding] evidence: NAS
            GeneID:10134 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:10134 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
            GeneID:10134 -> Biological process: GO:0006886 [intracellular protein transport] evidence: IEA
            GeneID:10134 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
            GeneID:10134 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
            GeneID:10134 -> Biological process: GO:0006955 [immune response] evidence: NAS
            GeneID:10134 -> Biological process: GO:0007204 [elevation of cytosolic calcium ion concentration] evidence: IMP
            GeneID:10134 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA
            GeneID:10134 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: IEA
            GeneID:10134 -> Biological process: GO:0032471 [reduction of endoplasmic reticulum calcium ion concentration] evidence: IMP
            GeneID:10134 -> Biological process: GO:0035584 [calcium-mediated signaling using intracellular calcium source] evidence: IMP
            GeneID:10134 -> Biological process: GO:0043280 [positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IMP
            GeneID:10134 -> Biological process: GO:0051561 [elevation of mitochondrial calcium ion concentration] evidence: IMP
            GeneID:10134 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP
            GeneID:10134 -> Cellular component: GO:0000139 [Golgi membrane] evidence: IEA
            GeneID:10134 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
            GeneID:10134 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
            GeneID:10134 -> Cellular component: GO:0005811 [lipid particle] evidence: IDA
            GeneID:10134 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:10134 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: IDA
            GeneID:10134 -> Cellular component: GO:0033116 [endoplasmic reticulum-Golgi intermediate compartment membrane] evidence: IEA
            GeneID:10134 -> Cellular component: GO:0071556 [integral to lumenal side of endoplasmic reticulum membrane] evidence: TAS

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.