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

Basic Information

Gene ID

331

Name

XIAP

Synonym

API3|BIRC4|IAP-3|ILP1|MIHA|XLP2|hIAP-3|hIAP3;X-linked inhibitor of apoptosis;XIAP;X-linked inhibitor of apoptosis

Definition

E3 ubiquitin-protein ligase XIAP|IAP-like protein|X-linked IAP|baculoviral IAP repeat-containing protein 4|inhibitor of apoptosis protein 3

Position

Xq25

Gene Type

protein-coding

PAH Type

Description

PAH

"The effect of GDF5 and BMP2 on proliferation and/or programmed cells death was assessed in isolated human vascular smooth muscle cells and mouse embryonic fibroblasts. We demonstrate that GDF5 and BMP2 prevent apoptosis induced by serum starvation in mouse embryonic fibroblasts but not in smooth muscle cells via the BMP receptor 2 (BMPR2), which is often mutated in hereditary cases of primary pulmonary hypertension. GDF5 and BMP2 stimulate the interaction of BMPR-2 with XIAP thereby reducing the ubiquitination of XIAP, which results in enhanced protein stability. ".
More detail of all Human literatures about XIAP

Pathways and Diseases

Pathway

Apoptosis;Reactome;REACT:578

Pathway

TGF-beta receptor signaling;PID Curated;200195

Pathway

BMP receptor signaling;PID Curated;200123

Pathway

Focal adhesion;KEGG PATHWAY;hsa04510

Pathway

Pathways in cancer;KEGG PATHWAY;hsa05200

Pathway

NOD-like receptor signaling pathway;KEGG PATHWAY;hsa04621

Pathway

Apoptosis;KEGG PATHWAY;hsa04210

Pathway

Ubiquitin mediated proteolysis;KEGG PATHWAY;hsa04120

Pathway

SMAC binds to IAPs;PID Reactome;500884

Pathway

SMAC-mediated dissociation of IAP:caspase complexes;PID Reactome;500934

Pathway

Apoptosis signaling pathway;PANTHER;P00006

Pathway

Small cell lung cancer;KEGG PATHWAY;hsa05222

Pathway

Caspase cascade in apoptosis;PID Curated;200148

Pathway

Toxoplasmosis;KEGG PATHWAY;hsa05145

Disease

Lymphoproliferative syndrome, X-linked, 2;OMIM

Disease

Ischemia;FunDO

Disease

Other well-defined immunodeficiency syndromes;KEGG DISEASE;H00107

Disease

Immune system diseases;KEGG DISEASE

Disease

Copper metabolism disorder;FunDO

Disease

Multiple sclerosis;FunDO

Disease

Cancer;FunDO

Disease

Familial Mediterranean Fever;GAD

Disease

mevalonate kinase deficiency;GAD

Disease

Primary immunodeficiency;KEGG DISEASE

Disease

Immunologic deficiency syndrome;FunDO

Disease

Cryopyrin-associated Periodic Syndromes;GAD

External Links

Links to Entrez Gene

331

Links to all GeneRIF Items

331

Links to iHOP

331

Sequence Information

Nucleotide Sequence

>331 : length: 1494
atgacttttaacagttttgaaggatctaaaacttgtgtacctgcagacatcaataaggaa
gaagaatttgtagaagagtttaatagattaaaaacttttgctaattttccaagtggtagt
cctgtttcagcatcaacactggcacgagcagggtttctttatactggtgaaggagatacc
gtgcggtgctttagttgtcatgcagctgtagatagatggcaatatggagactcagcagtt
ggaagacacaggaaagtatccccaaattgcagatttatcaacggcttttatcttgaaaat
agtgccacgcagtctacaaattctggtatccagaatggtcagtacaaagttgaaaactat
ctgggaagcagagatcattttgccttagacaggccatctgagacacatgcagactatctt
ttgagaactgggcaggttgtagatatatcagacaccatatacccgaggaaccctgccatg
tatagtgaagaagctagattaaagtcctttcagaactggccagactatgctcacctaacc
ccaagagagttagcaagtgctggactctactacacaggtattggtgaccaagtgcagtgc
ttttgttgtggtggaaaactgaaaaattgggaaccttgtgatcgtgcctggtcagaacac
aggcgacactttcctaattgcttctttgttttgggccggaatcttaatattcgaagtgaa
tctgatgctgtgagttctgataggaatttcccaaattcaacaaatcttccaagaaatcca
tccatggcagattatgaagcacggatctttacttttgggacatggatatactcagttaac
aaggagcagcttgcaagagctggattttatgctttaggtgaaggtgataaagtaaagtgc
tttcactgtggaggagggctaactgattggaagcccagtgaagacccttgggaacaacat
gctaaatggtatccagggtgcaaatatctgttagaacagaagggacaagaatatataaac
aatattcatttaactcattcacttgaggagtgtctggtaagaactactgagaaaacacca
tcactaactagaagaattgatgataccatcttccaaaatcctatggtacaagaagctata
cgaatggggttcagtttcaaggacattaagaaaataatggaggaaaaaattcagatatct
gggagcaactataaatcacttgaggttctggttgcagatctagtgaatgctcagaaagac
agtatgcaagatgagtcaagtcagacttcattacagaaagagattagtactgaagagcag
ctaaggcgcctgcaagaggagaagctttgcaaaatctgtatggatagaaatattgctatc
gtttttgttccttgtggacatctagtcacttgtaaacaatgtgctgaagcagttgacaag
tgtcccatgtgctacacagtcattactttcaagcaaaaaatttttatgtcttaa

Protein Sequence

>331 : length: 497
MTFNSFEGSKTCVPADINKEEEFVEEFNRLKTFANFPSGSPVSASTLARAGFLYTGEGDT
VRCFSCHAAVDRWQYGDSAVGRHRKVSPNCRFINGFYLENSATQSTNSGIQNGQYKVENY
LGSRDHFALDRPSETHADYLLRTGQVVDISDTIYPRNPAMYSEEARLKSFQNWPDYAHLT
PRELASAGLYYTGIGDQVQCFCCGGKLKNWEPCDRAWSEHRRHFPNCFFVLGRNLNIRSE
SDAVSSDRNFPNSTNLPRNPSMADYEARIFTFGTWIYSVNKEQLARAGFYALGEGDKVKC
FHCGGGLTDWKPSEDPWEQHAKWYPGCKYLLEQKGQEYINNIHLTHSLEECLVRTTEKTP
SLTRRIDDTIFQNPMVQEAIRMGFSFKDIKKIMEEKIQISGSNYKSLEVLVADLVNAQKD
SMQDESSQTSLQKEISTEEQLRRLQEEKLCKICMDRNIAIVFVPCGHLVTCKQCAEAVDK
CPMCYTVITFKQKIFMS



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