XIAP (X-linked inhibitor of apoptosis)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 331
Gene name X-linked inhibitor of apoptosis
Gene symbol XIAP
Synonyms (NCBI Gene)
API3BIRC4IAP-3ILP1MIHAXLP2hIAP-3hIAP3
Chromosome X
Chromosome location Xq25
Summary This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through bind
SNPs SNP information provided by dbSNP.
16
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
SNP ID Visualize variation Clinical significance Consequence
rs60841987 AAA>-,A,AA,AAAA,AAAAA,AAAAAA Conflicting-interpretations-of-pathogenicity, benign 3 prime UTR variant, non coding transcript variant
rs104894764 G>T Pathogenic Coding sequence variant, stop gained, intron variant
rs111978474 C>T Pathogenic Coding sequence variant, stop gained, intron variant
rs387907301 G>A Pathogenic Missense variant, intron variant, coding sequence variant
rs1556404455 T>- Pathogenic Intron variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2131
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2131)
miRTarBase ID miRNA Experiments Reference
MIRT006260 hsa-miR-34a-3p Luciferase reporter assay 22161761
MIRT006260 hsa-miR-34a-3p Luciferase reporter assay 22161761
MIRT006260 hsa-miR-34a-3p Luciferase reporter assay 22161761
MIRT006260 hsa-miR-34a-3p Luciferase reporter assay 22161761
MIRT006260 hsa-miR-34a-3p Luciferase reporter assay 22161761
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
Transcription factor Regulation Reference
AR Repression 20589722
NFKB1 Activation 15041463;15756023;16157589;18223231
NFKB1 Repression 18566231;18761050
NFKB1 Unknown 14739605;16453001;18978816
RELA Activation 15041463;15756023;18223231
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 19473982, 20154138, 21931591, 22304967, 22607974, 29452636
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity IMP 29020630
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IDA 9230442, 11257230, 11257231, 16916640
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300079 592 ENSG00000101966
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98170
Protein name E3 ubiquitin-protein ligase XIAP (EC 2.3.2.27) (Baculoviral IAP repeat-containing protein 4) (IAP-like protein) (ILP) (hILP) (Inhibitor of apoptosis protein 3) (IAP-3) (hIAP-3) (hIAP3) (RING-type E3 ubiquitin transferase XIAP) (X-linked inhibitor of apopt
Protein function Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis (PubMed
PDB 1C9Q , 1F9X , 1G3F , 1G73 , 1I3O , 1I4O , 1I51 , 1KMC , 1NW9 , 1TFQ , 1TFT , 2ECG , 2JK7 , 2KNA , 2OPY , 2OPZ , 2POI , 2POP , 2QRA , 2VSL , 3CLX , 3CM2 , 3CM7 , 3EYL , 3G76 , 3HL5 , 3UW4 , 3UW5 , 4EC4 , 4HY0 , 4IC2 , 4IC3 , 4J3Y , 4J44 , 4J45 , 4J46 , 4J47 , 4J48 , 4KJU , 4KJV , 4KMP , 4MTZ , 4OXC , 4WVS , 4WVT , 4WVU , 5C0K , 5C0L , 5C3H , 5C3K , 5C7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00653 BIR 29 → 94 Inhibitor of Apoptosis domain Domain
PF00653 BIR 166 → 231 Inhibitor of Apoptosis domain Domain
PF00653 BIR 268 → 331 Inhibitor of Apoptosis domain Domain
PF13920 zf-C3HC4_3 446 → 490 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colonic crypts (at protein level) (PubMed:30389919). Ubiquitous, except peripheral blood leukocytes (PubMed:8654366). {ECO:0000269|PubMed:30389919, ECO:0000269|PubMed:8654366}.
Sequence 
MTFNSFEGSKTCVPADINKEEEFVEEFNRLKTFANFPSGSPVSASTLARAGFLYTGEGDT
VRCFSCHAAVDRWQYGDSAVGRHRKVSPNCRFINGFYLENSATQSTNSGIQNGQYKVENY
LGSRDHFALDRPSETHADYLLRTGQVVDISDTIYPRNPAMYSEEARLKSFQNWPDYAHLT
PRELASAGLYYTGIGDQVQCFCCGGKLKNWEPCDRAWSEHRRHFPNCFFVLGRNLNIRSE
SDAVSSDRNFPNSTNLPRNPSMADYEARIFTFGTWIYSVNKEQLARAGFYALGEGDKVKC
FHCGGGLTDWKPSEDPWEQHAKWYPGCKYLLEQKGQEYINNIHLTHSLEECLVRTTEKTP
SLTRRIDDTIFQNPMVQEAIRMGFSFKDIKKIMEEKIQISGSNYKSLEVLVADLVNAQKD
SMQDESSQTSLQKEISTEEQLRRLQEEKLCKICMDRNIAIVFVPCGHLVTCKQCAEAVDK
CPMCYTVITFKQKIFMS
Sequence length 497
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Platinum drug resistance
NF-kappa B signaling pathway
Ubiquitin mediated proteolysis
Apoptosis
Apoptosis - multiple species
Necroptosis
Focal adhesion
NOD-like receptor signaling pathway
TNF signaling pathway
Toxoplasmosis
Human T-cell leukemia virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Small cell lung cancer 		  Activation of caspases through apoptosome-mediated cleavage
SMAC (DIABLO) binds to IAPs
SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
SMAC, XIAP-regulated apoptotic response
Deactivation of the beta-catenin transactivating complex
RIPK1-mediated regulated necrosis
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Regulation of necroptotic cell death
Regulation of PTEN localization
Regulation of PTEN stability and activity
Regulation of the apoptosome activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
360
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic rs2148090291 RCV002264568
Nonpapillary renal cell carcinoma Pathogenic rs2148096152, rs1556404684 RCV005912645
RCV005900200
Recurrent infections Pathogenic rs1556408009 RCV000626775
Sepsis Pathogenic rs1556408009 RCV000626775
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphoproliferative disorder Benign; Uncertain significance; Likely benign rs58114044, rs60841987, rs397713705, rs374013599, rs747235601, rs79291374, rs762141177, rs368295939, rs770819952, rs751242607, rs111508332, rs28382756 RCV001731649
RCV001731650
RCV001731644
RCV001731653
RCV001731640
RCV001731641
RCV001731642
RCV001731643
RCV001731646
RCV001731645
RCV001731647
RCV001731648
RCV001731651
RCV001731652
RCV001731654
See cases Conflicting classifications of pathogenicity rs1602544454 RCV003156136
X-linked lymphoproliferative disease due to SH2D1A deficiency Conflicting classifications of pathogenicity rs777303823 RCV000764858
Show/Hide Text Mining Associations (167)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 18432259, 22867709, 31151416, 36472768
Adenocarcinoma Bronchiolo Alveolar Associate 18432259
Adenocarcinoma of Lung Associate 22471490, 26313705
Adenoma Associate 21935275
Agammaglobulinemia Associate 23944711
Alzheimer Disease Associate 17292615, 21707856
Angioedemas Hereditary Associate 19288545, 20489057, 24611904, 25079909
Angioedemas Hereditary Stimulate 21173700
Anodontia Stimulate 16042757
Apical Hypertrophic Cardiomyopathy Associate 32797709