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2024-04-19 22:21:49, 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 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
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