Gene Gene information from NCBI Gene database.
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
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
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
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
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.
MIM HGNC e!Ensembl
300079 592 ENSG00000101966
Protein Protein information from UniProt database.
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
VRCFSCHAAVDRWQYGDSAVGRHRKVSPNCRFIN
GFYLENSATQSTNSGIQNGQYKVENY
LGSRDHFALDRPSETHADYLLRTGQVVDISDTIYPRNPAMYSEEARLKSFQNWPDYAHLT
PRELASAGLYYTGIGDQVQCFCCGGKLKNWEPCDRAWSEHRRHFPNCFFVL
GRNLNIRSE
SDAVSSDRNFPNSTNLPRNPSMADYEARIFTFGTWIYSVNKEQLARAGFYALGEGDKVKC
FHCGGGLTDWKPSEDPWEQHAKWYPGCKYLL
EQKGQEYINNIHLTHSLEECLVRTTEKTP
SLTRRIDDTIFQNPMVQEAIRMGFSFKDIKKIMEEKIQISGSNYKSLEVLVADLVNAQKD
SMQDESSQTSLQKEISTEEQLRRLQEEKLCKICMDRNIAIVFVPCGHLVTCKQCAEAVDK
CPMCYTVITF
KQKIFMS
Sequence length 497
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome Likely pathogenic rs2148090291 RCV002264568
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Pathogenic rs2148096152, rs1556404684 RCV005912645
RCV005900200
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent infections Pathogenic rs1556408009 RCV000626775
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sepsis Pathogenic rs1556408009 RCV000626775
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoproliferative disorder Benign; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 18520160
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 18187663, 19897582
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28300832
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17471152, 29109763, 29693699
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17471152, 18807090
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 29467895, 31151416
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28597042, 31086598
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 16868249, 18503581
★☆☆☆☆
Found in Text Mining only