• Gene id: 331

Gene Summary

• Gene Symbol: XIAP   Gene   UCSC   Ensembl
• Aliases: API3, BIRC4, IAP-3, ILP1, MIHA, XLP2, hIAP-3, hIAP3
• Gene name: X-linked inhibitor of apoptosis
• Alternate names: E3 ubiquitin-protein ligase XIAP, IAP-like protein, IAP-like protein 1, RING-type E3 ubiquitin transferase XIAP, X-linked IAP, X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase, baculoviral IAP repeat-containing protein 4, inhibitor of apoptosis prote,
• Gene location: Xq25 (123859707: 123913971)     Exons: 10     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300079

SNPs

rs606231461

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

Protein Summary

• Protein general information: P98170  
  • 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
  • Length: 497  
  • Mass: 56685
  • Tissue specificity: Ubiquitous, except peripheral blood leukocytes.
• Sequence:

  MTFNSFEGSKTCVPADINKEEEFVEEFNRLKTFANFPSGSPVSASTLARAGFLYTGEGDTVRCFSCHAAVDRWQY
  GDSAVGRHRKVSPNCRFINGFYLENSATQSTNSGIQNGQYKVENYLGSRDHFALDRPSETHADYLLRTGQVVDIS
  DTIYPRNPAMYSEEARLKSFQNWPDYAHLTPRELASAGLYYTGIGDQVQCFCCGGKLKNWEPCDRAWSEHRRHFP
  NCFFVLGRNLNIRSESDAVSSDRNFPNSTNLPRNPSMADYEARIFTFGTWIYSVNKEQLARAGFYALGEGDKVKC
  FHCGGGLTDWKPSEDPWEQHAKWYPGCKYLLEQKGQEYINNIHLTHSLEECLVRTTEKTPSLTRRIDDTIFQNPM
  VQEAIRMGFSFKDIKKIMEEKIQISGSNYKSLEVLVADLVNAQKDSMQDESSQTSLQKEISTEEQLRRLQEEKLC
  KICMDRNIAIVFVPCGHLVTCKQCAEAVDKCPMCYTVITFKQKIFMS

• Structural information:
  • Interpro: IPR001370  IPR042579  IPR001841  IPR013083  
  • Prosite: PS01282 PS50143 PS50089
  • CDD: cd00022 cd14395
  • 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 5C7B 5C7C 5C7D 5C83 5C84 5M6E 5M6F 5M6H 5M6L 5M6M 5O6T 5OQW 6EY
  • PDBsum: 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 5C7B 5C7C 5C7D 5C83 5C84 5M6E 5M6F 5M6H 5M6L 5M6M 5O6T 5OQW 6EY
  • DIP: 27626
  • STRING: ENSP00000360242
• Other Databases: GeneCards:  XIAP  Malacards:  XIAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0031398	positive regulation of protein ubiquitination	IBA	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA	molecular function
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IBA	biological process
GO:1990001	inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0050727	regulation of inflammatory response	TAS	biological process
GO:0042127	regulation of cell population proliferation	TAS	biological process
GO:0030510	regulation of BMP signaling pathway	TAS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0070424	regulation of nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0055070	copper ion homeostasis	TAS	biological process
GO:0045088	regulation of innate immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990001	inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:1902530	positive regulation of protein linear polyubiquitination	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IEP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa04510	Focal adhesion
hsa04120	Ubiquitin mediated proteolysis
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis
hsa04210	Apoptosis
hsa04064	NF-kappa B signaling pathway
hsa05145	Toxoplasmosis
hsa05222	Small cell lung cancer
hsa01524	Platinum drug resistance
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Other well-defined immunodeficiency syndromes	KEGG:H00107
X-linked lymphoproliferative syndrome	KEGG:H01969
Other well-defined immunodeficiency syndromes	KEGG:H00107
X-linked lymphoproliferative syndrome	KEGG:H01969
Prostate cancer	PMID:17947468
Prostate cancer	PMID:19415464
Breast cancer	PMID:19563669
breast ductal carcinoma	PMID:17350670
renal cell carcinoma	PMID:17332931
cervix uteri carcinoma in situ	PMID:18325467
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)