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2025-05-09 19:41:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001079539 1810 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens X-box binding protein 1 (XBP1), transcript variant 2,
mRNA.
ACCESSION NM_001079539
VERSION NM_001079539.1 GI:118640872
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 1810)
AUTHORS Margariti,A., Li,H., Chen,T., Martin,D., Vizcay-Barrena,G.,
Alam,S., Karamariti,E., Xiao,Q., Zampetaki,A., Zhang,Z., Wang,W.,
Jiang,Z., Gao,C., Ma,B., Chen,Y.G., Cockerill,G., Hu,Y., Xu,Q. and
Zeng,L.
TITLE XBP1 mRNA splicing triggers an autophagic response in endothelial
cells through BECLIN-1 transcriptional activation
JOURNAL J. Biol. Chem. 288 (2), 859-872 (2013)
PUBMED 23184933
REMARK GeneRIF: results suggest that XBP1 mRNA splicing triggers an
autophagic signal pathway through transcriptional regulation of
BECLIN-1
REFERENCE 2 (bases 1 to 1810)
AUTHORS Uemura,A., Taniguchi,M., Matsuo,Y., Oku,M., Wakabayashi,S. and
Yoshida,H.
TITLE UBC9 regulates the stability of XBP1, a key transcription factor
controlling the ER stress response
JOURNAL Cell Struct. Funct. 38 (1), 67-79 (2013)
PUBMED 23470653
REMARK GeneRIF: Suppression of UBC9 expression by RNA interference reduced
both the expression of pXBP1(S) and ER stress-induced transcription
by pXBP1
REFERENCE 3 (bases 1 to 1810)
AUTHORS Taubenheim,N., Tarlinton,D.M., Crawford,S., Corcoran,L.M.,
Hodgkin,P.D. and Nutt,S.L.
TITLE High rate of antibody secretion is not integral to plasma cell
differentiation as revealed by XBP-1 deficiency
JOURNAL J. Immunol. 189 (7), 3328-3338 (2012)
PUBMED 22925926
REMARK GeneRIF: XBP-1 deficiency demonstrates that the gene regulatory
program controlling plasma cell differentiation can proceed
relatively normally in the absence of high rates of immunoglobulin
secretion.
REFERENCE 4 (bases 1 to 1810)
AUTHORS Wu,C., Kraft,P., Zhai,K., Chang,J., Wang,Z., Li,Y., Hu,Z., He,Z.,
Jia,W., Abnet,C.C., Liang,L., Hu,N., Miao,X., Zhou,Y., Liu,Z.,
Zhan,Q., Liu,Y., Qiao,Y., Zhou,Y., Jin,G., Guo,C., Lu,C., Yang,H.,
Fu,J., Yu,D., Freedman,N.D., Ding,T., Tan,W., Goldstein,A.M.,
Wu,T., Shen,H., Ke,Y., Zeng,Y., Chanock,S.J., Taylor,P.R. and
Lin,D.
TITLE Genome-wide association analyses of esophageal squamous cell
carcinoma in Chinese identify multiple susceptibility loci and
gene-environment interactions
JOURNAL Nat. Genet. 44 (10), 1090-1097 (2012)
PUBMED 22960999
REFERENCE 5 (bases 1 to 1810)
AUTHORS Pehar,M., Jonas,M.C., Hare,T.M. and Puglielli,L.
TITLE SLC33A1/AT-1 protein regulates the induction of autophagy
downstream of IRE1/XBP1 pathway
JOURNAL J. Biol. Chem. 287 (35), 29921-29930 (2012)
PUBMED 22787145
REMARK GeneRIF: IRE1/XBP1 controls the induction of autophagy/ERAD(II)
during the unfolded protein response by activating the ER membrane
transporter SLC33A1/AT-1
REFERENCE 6 (bases 1 to 1810)
AUTHORS Ponath,P.D., Fass,D., Liou,H.C., Glimcher,L.H. and Strominger,J.L.
TITLE The regulatory gene, hXBP-1, and its target, HLA-DRA, utilize both
common and distinct regulatory elements and protein complexes
JOURNAL J. Biol. Chem. 268 (23), 17074-17082 (1993)
PUBMED 8349596
REFERENCE 7 (bases 1 to 1810)
AUTHORS Ono,S.J., Liou,H.C., Davidon,R., Strominger,J.L. and Glimcher,L.H.
TITLE Human X-box-binding protein 1 is required for the transcription of
a subset of human class II major histocompatibility genes and forms
a heterodimer with c-fos
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (10), 4309-4312 (1991)
PUBMED 1903538
REFERENCE 8 (bases 1 to 1810)
AUTHORS Liou,H.C., Eddy,R., Shows,T., Lisowska-Grospierre,B., Griscelli,C.,
Doyle,C., Mannhalter,J., Eibl,M. and Glimcher,L.H.
TITLE An HLA-DR alpha promoter DNA-binding protein is expressed
ubiquitously and maps to human chromosomes 22 and 5
JOURNAL Immunogenetics 34 (5), 286-292 (1991)
PUBMED 1718857
REFERENCE 9 (bases 1 to 1810)
AUTHORS Yoshimura,T., Fujisawa,J. and Yoshida,M.
TITLE Multiple cDNA clones encoding nuclear proteins that bind to the
tax-dependent enhancer of HTLV-1: all contain a leucine zipper
structure and basic amino acid domain
JOURNAL EMBO J. 9 (8), 2537-2542 (1990)
PUBMED 2196176
REFERENCE 10 (bases 1 to 1810)
AUTHORS Liou,H.C., Boothby,M.R., Finn,P.W., Davidon,R., Nabavi,N.,
Zeleznik-Le,N.J., Ting,J.P. and Glimcher,L.H.
TITLE A new member of the leucine zipper class of proteins that binds to
the HLA DR alpha promoter
JOURNAL Science 247 (4950), 1581-1584 (1990)
PUBMED 2321018
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI545390.1, AB076384.1,
AB076383.1 and BC015709.1.
Summary: This gene encodes a transcription factor that regulates
MHC class II genes by binding to a promoter element referred to as
an X box. This gene product is a bZIP protein, which was also
identified as a cellular transcription factor that binds to an
enhancer in the promoter of the T cell leukemia virus type 1
promoter. It may increase expression of viral proteins by acting as
the DNA binding partner of a viral transactivator. It has been
found that upon accumulation of unfolded proteins in the
endoplasmic reticulum (ER), the mRNA of this gene is processed to
an active form by an unconventional splicing mechanism that is
mediated by the endonuclease inositol-requiring enzyme 1 (IRE1).
The resulting loss of 26 nt from the spliced mRNA causes a
frame-shift and an isoform XBP1(S), which is the functionally
active transcription factor. The isoform encoded by the unspliced
mRNA, XBP1(U), is constitutively expressed, and thought to function
as a negative feedback regulator of XBP1(S), which shuts off
transcription of target genes during the recovery phase of ER
stress. A pseudogene of XBP1 has been identified and localized to
chromosome 5. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (2) lacks a 26 nt segment in the
CDS compared to variant 1, that causes a frameshift. The resulting
isoform, XBP1(S), has the same N-terminus, but a longer and
distinct C-terminus compared to isoform XBP1(U). Isoform XBP1(S)
functions as a transcription factor.
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 :: BG705623.1, AB076384.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-43 BI545390.1 22-64
44-541 AB076384.1 4-501
542-1784 AB076383.1 528-1770
1785-1810 BC015709.1 1704-1729
FEATURES Location/Qualifiers
source 1..1810
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q12.1"
gene 1..1810
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/note="X-box binding protein 1"
/db_xref="GeneID:7494"
/db_xref="HGNC:12801"
/db_xref="MIM:194355"
exon 1..275
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
misc_feature 37..39
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/note="upstream in-frame stop codon"
CDS 49..1179
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/note="isoform XBP1(S) is encoded by transcript variant 2;
X-box-binding protein 1; tax-responsive element-binding
protein 5"
/codon_start=1
/product="X-box-binding protein 1 isoform XBP1(S)"
/protein_id="NP_001073007.1"
/db_xref="GI:118640873"
/db_xref="GeneID:7494"
/db_xref="HGNC:12801"
/db_xref="MIM:194355"
/translation="
MVVVAAAPNPADGTPKVLLLSGQPASAAGAPAGQALPLMVPAQRGASPEAASGGLPQARKRQRLTHLSPEEKALRRKLKNRVAAQTARDRKKARMSELEQQVVDLEEENQKLLLENQLLREKTHGLVVENQELRQRLGMDALVAEEEAEAKGNEVRPVAGSAESAAGAGPVVTPPEHLPMDSGGIDSSDSESDILLGILDNLDPVMFFKCPSPEPASLEELPEVYPEGPSSLPASLSLSVGTSSAKLEAINELIRFDHIYTKPLVLEIPSETESQANVVVKIEEAPLSPSENDHPEFIVSVKEEPVEDDLVPELGISNLLSSSHCPKPSSCLLDAYSDCGYGGSLSPFSDMSSLLGVNHSWEDTFANELFPQLISV
"
misc_feature 250..>333
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/note="basic region leucin zipper; Region: BRLZ;
smart00338"
/db_xref="CDD:197664"
misc_feature 262..330
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P17861.2);
Region: Basic motif (By similarity)"
misc_feature 340..447
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P17861.2);
Region: Leucine-zipper (By similarity)"
variation 255
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228260"
exon 276..372
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
exon 373..501
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
variation 487
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11554255"
exon 502..540
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
exon 541..621
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
exon 622..1794
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/inference="alignment:Splign:1.39.8"
STS 815..910
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/standard_name="DXS9738"
/db_xref="UniSTS:79461"
variation 1006
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803772"
variation 1084
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064181"
STS 1359..1595
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/standard_name="STS-M31627"
/db_xref="UniSTS:65864"
STS 1565..1751
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/standard_name="RH27882"
/db_xref="UniSTS:89567"
STS 1566..1721
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/standard_name="D22S1031"
/db_xref="UniSTS:50803"
variation 1699
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="a"
/replace="g"
/db_xref="dbSNP:14963"
variation 1705
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34731735"
polyA_signal 1777..1782
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
polyA_site 1794
/gene="XBP1"
/gene_synonym="TREB5; XBP-1; XBP2"
ORIGIN
ggcgctgggcggctgcggcgcgcggtgcgcggtgcgtagtctggagctatggtggtggtggcagccgcgccgaacccggccgacgggacccctaaagttctgcttctgtcggggcagcccgcctccgccgccggagccccggccggccaggccctgccgctcatggtgccagcccagagaggggccagcccggaggcagcgagcggggggctgccccaggcgcgcaagcgacagcgcctcacgcacctgagccccgaggagaaggcgctgaggaggaaactgaaaaacagagtagcagctcagactgccagagatcgaaagaaggctcgaatgagtgagctggaacagcaagtggtagatttagaagaagagaaccaaaaacttttgctagaaaatcagcttttacgagagaaaactcatggccttgtagttgagaaccaggagttaagacagcgcttggggatggatgccctggttgctgaagaggaggcggaagccaaggggaatgaagtgaggccagtggccgggtctgctgagtccgcagcaggtgcaggcccagttgtcacccctccagaacatctccccatggattctggcggtattgactcttcagattcagagtctgatatcctgttgggcattctggacaacttggacccagtcatgttcttcaaatgcccttccccagagcctgccagcctggaggagctcccagaggtctacccagaaggacccagttccttaccagcctccctttctctgtcagtggggacgtcatcagccaagctggaagccattaatgaactaattcgttttgaccacatatataccaagcccctagtcttagagataccctctgagacagagagccaagctaatgtggtagtgaaaatcgaggaagcacctctcagcccctcagagaatgatcaccctgaattcattgtctcagtgaaggaagaacctgtagaagatgacctcgttccggagctgggtatctcaaatctgctttcatccagccactgcccaaagccatcttcctgcctactggatgcttacagtgactgtggatacgggggttccctttccccattcagtgacatgtcctctctgcttggtgtaaaccattcttgggaggacacttttgccaatgaactctttccccagctgattagtgtctaaggaatgatccaatactgttgcccttttccttgactattacactgcctggaggatagcagagaagcctgtctgtacttcattcaaaaagccaaaatagagagtatacagtcctagagaattcctctatttgttcagatctcatagatgacccccaggtattgtcttttgacatccagcagtccaaggtattgagacatattactggaagtaagaaatattactataattgagaactacagcttttaagattgtacttttatcttaaaagggtggtagttttccctaaaatacttattatgtaagggtcattagacaaatgtcttgaagtagacatggaatttatgaatggttctttatcatttctcttccccctttttggcatcctggcttgcctccagttttaggtcctttagtttgcttctgtaagcaacgggaacacctgctgagggggctctttccctcatgtatacttcaagtaagatcaagaatcttttgtgaaattatagaaatttactatgtaaatgcttgatggaattttttcctgctagtgtagcttctgaaaggtgctttctccatttatttaaaactacccatgcaattaaaaggtacaatgcaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7494 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS
GeneID:7494 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:7494 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:7494 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IEA
GeneID:7494 -> Biological process: GO:0006955 [immune response] evidence: TAS
GeneID:7494 -> Biological process: GO:0006987 [activation of signaling protein activity involved in unfolded protein response] evidence: TAS
GeneID:7494 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: TAS
GeneID:7494 -> Biological process: GO:0031017 [exocrine pancreas development] evidence: IEA
GeneID:7494 -> Biological process: GO:0042493 [response to drug] evidence: IEA
GeneID:7494 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:7494 -> Biological process: GO:0051602 [response to electrical stimulus] evidence: IEA
GeneID:7494 -> Biological process: GO:0060096 [serotonin secretion, neurotransmission] evidence: IEA
GeneID:7494 -> Biological process: GO:0060691 [epithelial cell maturation involved in salivary gland development] evidence: IEA
GeneID:7494 -> Biological process: GO:1900103 [positive regulation of endoplasmic reticulum unfolded protein response] evidence: IMP
GeneID:7494 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:7494 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
by
@meso_cacase at
DBCLS
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