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2024-04-16 14:40:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001139457 1828 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens B-cell receptor-associated protein 31 (BCAP31),
transcript variant 1, mRNA.
ACCESSION NM_001139457
VERSION NM_001139457.2 GI:374253795
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 1828)
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 BG779815.1, AK057613.1 and
AI123868.1.
On Jan 28, 2012 this sequence version replaced gi:213511507.
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 (1) represents the longest
transcript and encodes the longer isoform (a).
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 :: AK057613.1, AK223059.1 [ECO:0000332]
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
1-7 BG779815.1 1-7
8-1818 AK057613.1 1-1811
1819-1828 AI123868.1 1-10 c
FEATURES Location/Qualifiers
source 1..1828
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq28"
gene 1..1828
/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..594
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
variation 345
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:11537729"
misc_feature 366..368
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/note="upstream in-frame stop codon"
CDS 438..1379
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/note="isoform a is encoded by transcript variant 1;
BCR-associated protein Bap31; p28 Bap31; 6C6-AG
tumor-associated antigen"
/codon_start=1
/product="B-cell receptor-associated protein 31 isoform a"
/protein_id="NP_001132929.1"
/db_xref="GI:213511508"
/db_xref="CCDS:CCDS48191.1"
/db_xref="GeneID:10134"
/db_xref="HGNC:16695"
/db_xref="MIM:300398"
/translation="
MGAEASSSWCPGTALPEERLSVKRASEISGFLGQGSSGEAALDVLTHVLEGAGNKLTSSCGKPSSNRMSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE
"
misc_feature 639..1310
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/note="B-cell receptor-associated protein 31-like; Region:
Bap31; pfam05529"
/db_xref="CDD:203268"
exon 595..730
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
exon 731..831
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
exon 832..979
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
variation 839
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="a"
/replace="g"
/db_xref="dbSNP:11537725"
variation 963
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:11537726"
exon 980..1115
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
variation 1019
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:11537730"
variation 1043
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:11537731"
exon 1116..1239
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
exon 1240..1340
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
exon 1341..1824
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/inference="alignment:Splign:1.39.8"
STS 1367..1562
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/standard_name="RH79936"
/db_xref="UniSTS:88296"
variation 1401
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:11537732"
STS 1511..1740
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/standard_name="RH77716"
/db_xref="UniSTS:88176"
variation 1546
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="a"
/replace="g"
/db_xref="dbSNP:11537728"
variation 1606
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="g"
/replace="t"
/db_xref="dbSNP:1064720"
variation 1637
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/replace="c"
/replace="t"
/db_xref="dbSNP:13126"
STS 1649..1804
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
/standard_name="DXS7452"
/db_xref="UniSTS:99348"
polyA_signal 1797..1802
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
polyA_site 1819
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
polyA_site 1824
/gene="BCAP31"
/gene_synonym="6C6-AG; BAP31; CDM; DXS1357E"
ORIGIN
gatgggcctccgggacggtgtgccaggccggggccaagtcggaggcccctcgctctgggtgggcgctggggcccgcgagggctactgtaaggacccctggcttctgaggatactgcgtctagaactttctccgtatggggccttgaggtgcttggtcgagacctgcctttgcgcttggtcccgaatcctgccctctaggagtcgctcttgcgggcctccagcccaccggaggcgaagcggccccgggcggaaggccgctggatcctcgagggaggtgccggtttctctccgcgggcgccgtggggacggtgggaggcgggggcgtcggcagcgcttggactaggtgcggccttgggcctgcctggtagcggggatttgggcccgcagagcgcccgcctctgcggctgagttctgcctggcggggaagggagcgcccgatgggtgccgaggcgtcctcctcttggtgccctggcactgctcttcccgaagaacgcctttcagttaaacgggcgtcggaaatctcgggcttcctggggcagggatcgtcgggagaggccgctctggacgtgttgacacacgtgctggagggggcaggaaacaagctcacatcttcctgtgggaaaccttctagcaacaggatgagtctgcagtggactgcagttgccaccttcctctatgcggaggtctttgttgtgttgcttctctgcattcccttcatttctcctaaaagatggcagaagattttcaagtcccggctggtggagttgttagtgtcctatggcaacaccttctttgtggttctcattgtcatccttgtgctgttggtcatcgatgccgtgcgcgaaattcggaagtatgatgatgtgacggaaaaggtgaacctccagaacaatcccggggccatggagcacttccacatgaagcttttccgtgcccagaggaatctctacattgctggcttttccttgctgctgtccttcctgcttagacgcctggtgactctcatttcgcagcaggccacgctgctggcctccaatgaagcctttaaaaagcaggcggagagtgctagtgaggcggccaagaagtacatggaggagaatgaccagctcaagaagggagctgctgttgacggaggcaagttggatgtcgggaatgctgaggtgaagttggaggaagagaacaggagcctgaaggctgacctgcagaagctaaaggacgagctggccagcactaagcaaaaactagagaaagctgaaaaccaggttctggccatgcggaagcagtctgagggcctcaccaaggagtacgaccgcttgctggaggagcacgcaaagctgcaggctgcagtagatggtcccatggacaagaaggaagagtaagggcctccttcctcccctgcctgcagctggcttccacctggcacgtgcctgctgcttcctgagagcccggcctctccctccagtacttctgtttgtgcccttctgcttcccccattcccttccacagctcatagctcgtcatctcggcccttgtccacactctccaagcacattacaggggacctgattgctacacgttcagaatgcgtttgctgtcatcctgcttggcctggccaggcctggcacagccttggcttccacgcctgagcgtggagagcacgagttagttgtagtccggcttgcggtggggctgacttcctgttggtttgagcccctttttgttttgccctctgggtgttttctttggtcccgcaggagggtgggtggagcaggtggactggagtttctcttgagggcaataaaagttgtcatggtgtgtacgtggaaaa
//
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
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@meso_cacase at
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