Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7494

Name

XBP1

Synonym

TREB5|XBP-1|XBP2;X-box binding protein 1;XBP1;X-box binding protein 1

Definition

X-box-binding protein 1|tax-responsive element-binding protein 5

Position

22q12.1|22q12

Gene Type

protein-coding

PAH Type

Description

PAH

"Several ER stress/UPR genes, including Immunoglobulin-heavy-chain binding protein (BiP), Activating Transcription Factor-4 and -6 (ATF4 and ATF6) and a spliced form of X-box binding protein (XBP1) were upregulated in lcSSc PBMCs, with the highest levels in patients with PAH. TG upregulated Heat shock proteins (HSP) and Interferon-regulated genes in control PBMCs. Selected HSP genes, particularly DNAJB1, and IFN-related genes were also found at significantly elevated levels in PBMCs from lcSSc patients, while IRF4 was significantly decreased. There was a positive correlation between DNAJB1 and severity of PAH disease (PAP) (r = 0.56, p<0.05) and between ER stress markers and IL-6 levels (r = 0.53, p< 0.0001) in lcSSc PBMCs."
More detail of all Human literatures about XBP1

Pathways and Diseases

Pathway

Activation of Chaperones by IRE1alpha;PID Reactome;500131

Pathway

FOXA1 transcription factor network;PID Curated;200194

Pathway

Protein processing in endoplasmic reticulum;KEGG PATHWAY;hsa04141

Pathway

Diabetes pathways;Reactome;REACT:15380

Disease

PSYCH;GAD

Disease

Myopathy;FunDO

Disease

Neurotic disorder;FunDO

Disease

Prostate cancer;FunDO

Disease

Enteritis;FunDO

Disease

Encephalopathies;FunDO

Disease

Multiple myeloma;FunDO

Disease

schizophrenia;GAD

Disease

Schizophrenia;FunDO

Disease

bipolar disorder;GAD

Disease

Breast cancer;FunDO

Disease

Bipolar disorder;FunDO

Disease

Major affective disorder-7, susceptibility to;OMIM

Disease

Ulcerative colitis;FunDO

Disease

Diabetes mellitus;FunDO

External Links

Links to Entrez Gene

7494

Links to all GeneRIF Items

7494

Links to iHOP

7494

Sequence Information

Nucleotide Sequence

>7494 : length: 1131
atggtggtggtggcagccgcgccgaacccggccgacgggacccctaaagttctgcttctg
tcggggcagcccgcctccgccgccggagccccggccggccaggccctgccgctcatggtg
ccagcccagagaggggccagcccggaggcagcgagcggggggctgccccaggcgcgcaag
cgacagcgcctcacgcacctgagccccgaggagaaggcgctgaggaggaaactgaaaaac
agagtagcagctcagactgccagagatcgaaagaaggctcgaatgagtgagctggaacag
caagtggtagatttagaagaagagaaccaaaaacttttgctagaaaatcagcttttacga
gagaaaactcatggccttgtagttgagaaccaggagttaagacagcgcttggggatggat
gccctggttgctgaagaggaggcggaagccaaggggaatgaagtgaggccagtggccggg
tctgctgagtccgcagcaggtgcaggcccagttgtcacccctccagaacatctccccatg
gattctggcggtattgactcttcagattcagagtctgatatcctgttgggcattctggac
aacttggacccagtcatgttcttcaaatgcccttccccagagcctgccagcctggaggag
ctcccagaggtctacccagaaggacccagttccttaccagcctccctttctctgtcagtg
gggacgtcatcagccaagctggaagccattaatgaactaattcgttttgaccacatatat
accaagcccctagtcttagagataccctctgagacagagagccaagctaatgtggtagtg
aaaatcgaggaagcacctctcagcccctcagagaatgatcaccctgaattcattgtctca
gtgaaggaagaacctgtagaagatgacctcgttccggagctgggtatctcaaatctgctt
tcatccagccactgcccaaagccatcttcctgcctactggatgcttacagtgactgtgga
tacgggggttccctttccccattcagtgacatgtcctctctgcttggtgtaaaccattct
tgggaggacacttttgccaatgaactctttccccagctgattagtgtctaa

Protein Sequence

>7494 : length: 376
MVVVAAAPNPADGTPKVLLLSGQPASAAGAPAGQALPLMVPAQRGASPEAASGGLPQARK
RQRLTHLSPEEKALRRKLKNRVAAQTARDRKKARMSELEQQVVDLEEENQKLLLENQLLR
EKTHGLVVENQELRQRLGMDALVAEEEAEAKGNEVRPVAGSAESAAGAGPVVTPPEHLPM
DSGGIDSSDSESDILLGILDNLDPVMFFKCPSPEPASLEELPEVYPEGPSSLPASLSLSV
GTSSAKLEAINELIRFDHIYTKPLVLEIPSETESQANVVVKIEEAPLSPSENDHPEFIVS
VKEEPVEDDLVPELGISNLLSSSHCPKPSSCLLDAYSDCGYGGSLSPFSDMSSLLGVNHS
WEDTFANELFPQLISV



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