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XIAP X-linked inhibitor of apoptosis [ Homo sapiens (human) ]

Gene ID: 331, updated on 22-Apr-2024

Summary

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Official Symbol
XIAPprovided by HGNC
Official Full Name
X-linked inhibitor of apoptosisprovided by HGNC
Primary source
HGNC:HGNC:592
See related
Ensembl:ENSG00000101966 MIM:300079; AllianceGenome:HGNC:592
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
API3; ILP1; MIHA; XLP2; BIRC4; IAP-3; hIAP3; hIAP-3
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 binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in thyroid (RPKM 10.5), colon (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xq25
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (123859708..123913972)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (122170108..122224373)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (122993558..123047822)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 190, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:122992768-122993708 and GRCh37_chrX:122993709-122994650 Neighboring gene RNA, U6 small nuclear 122, pseudogene Neighboring gene PARD6B pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:123057919-123058420 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:123093522-123094437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29914 Neighboring gene STAG2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:123120781-123120983 Neighboring gene STAG2 cohesin complex component Neighboring gene MPRA-validated peak7422 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:123261133-123261790 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. X-linked inhibitor of apoptosis protein (XIAP) predicts disease-free survival in BRAFV600E mutant papillary thyroid carcinoma in middle eastern patients. Parvathareddy SK, et al. Front Endocrinol (Lausanne), 2022. PMID 36578953, Free PMC Article
  2. Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence. Sbihi Z, et al. J Clin Immunol, 2022 Apr. PMID 35000057
  3. Embelin: A novel XIAP inhibitor for the prevention and treatment of chronic diseases. Devi Daimary U, et al. J Biochem Mol Toxicol, 2022 Feb. PMID 34842329
  4. XIAP's Profile in Human Cancer. Tu H, et al. Biomolecules, 2020 Oct 29. PMID 33138314, Free PMC Article
  5. In-cell destabilization of a homodimeric protein complex detected by DEER spectroscopy. Yang Y, et al. Proc Natl Acad Sci U S A, 2020 Aug 25. PMID 32788347, Free PMC Article

See all (648) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Systematic analysis of PANoptosis-related genes identifies XIAP as a functional oncogene in breast cancer.
    Title: Systematic analysis of PANoptosis-related genes identifies XIAP as a functional oncogene in breast cancer.
  2. Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.
    Title: Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.
  3. Ehrlichia Notch signaling induction promotes XIAP stability and inhibits apoptosis.
    Title: Ehrlichia Notch signaling induction promotes XIAP stability and inhibits apoptosis.
  4. Nicotine promotes renal interstitial fibrosis via upregulation of XIAP in an alpha7-nAChR-dependent manner.
    Title: Nicotine promotes renal interstitial fibrosis via upregulation of XIAP in an alpha7-nAChR-dependent manner.
  5. Caspase-8-driven apoptotic and pyroptotic crosstalk causes cell death and IL-1beta release in X-linked inhibitor of apoptosis (XIAP) deficiency.
    Title: Caspase-8-driven apoptotic and pyroptotic crosstalk causes cell death and IL-1β release in X-linked inhibitor of apoptosis (XIAP) deficiency.
  6. XIAP and PHB1 Regulate Anoikis through Competitive Binding to TRAF6.
    Title: XIAP and PHB1 Regulate Anoikis through Competitive Binding to TRAF6.
  7. Caspase-3, Caspase-8 and XIAP Gene Expression in the Placenta: Exploring the Causes of Spontaneous Preterm Labour.
    Title: Caspase-3, Caspase-8 and XIAP Gene Expression in the Placenta: Exploring the Causes of Spontaneous Preterm Labour.
  8. X-linked inhibitor of apoptosis protein (XIAP) predicts disease-free survival in BRAFV600E mutant papillary thyroid carcinoma in middle eastern patients.
    Title: X-linked inhibitor of apoptosis protein (XIAP) predicts disease-free survival in BRAFV600E mutant papillary thyroid carcinoma in middle eastern patients.
  9. miR-515-5p suppresses trophoblast cell invasion and proliferation through XIAP regulation in preeclampsia.
    Title: miR-515-5p suppresses trophoblast cell invasion and proliferation through XIAP regulation in preeclampsia.
  10. Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.
    Title: Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.
Submit: New GeneRIF Correction See all GeneRIFs (446)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-07-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-07-27)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of X-linked inhibitor of apoptosis (XIAP; BIRC4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef Recombinant HIV-1 Nef increases expression of antiapoptotic proteins BCL2, AKT1, and XIAP in THP-1 cells and primary blood macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
enables endopeptidase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity EXP
Inferred from Experiment
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in copper ion homeostasis TAS
Traceable Author Statement
more info
 PubMed 
involved_in defense response to bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inhibition of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleotide-binding oligomerization domain containing 1 signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein linear polyubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of type I interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of BMP signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptosis involved in tissue homeostasis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_negative_effect regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of inflammatory response TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of innate immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IC
Inferred by Curator
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase XIAP
Names
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 protein 3
NP_001158.2
NP_001191330.1
NP_001365519.1
NP_001365520.1
NP_001365521.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007264.1 RefSeqGene

    Range
    4615..58782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_19

mRNA and Protein(s)

  1. NM_001167.4 → NP_001158.2  E3 ubiquitin-protein ligase XIAP

    See identical proteins and their annotated locations for NP_001158.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL121601, DA316362, DB113777, H09548, U32974
    Consensus CDS
    CCDS14606.1
    UniProtKB/Swiss-Prot
    D3DTF2, P98170, Q9NQ14
    UniProtKB/TrEMBL
    B2R9R2
    Related
    ENSP00000360242.3, ENST00000371199.8
    Conserved Domains (4) summary
    smart00238
    Location:162 → 232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:28 → 95
    BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...
    cd14395
    Location:370 → 419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436 → 497
    RING-HC_BIRC4_8; RING finger, HC subclass, found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins

  2. NM_001204401.2 → NP_001191330.1  E3 ubiquitin-protein ligase XIAP

    See identical proteins and their annotated locations for NP_001191330.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK313883, AL121601, H09548
    Consensus CDS
    CCDS14606.1
    UniProtKB/Swiss-Prot
    D3DTF2, P98170, Q9NQ14
    UniProtKB/TrEMBL
    B2R9R2
    Conserved Domains (4) summary
    smart00238
    Location:162 → 232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:28 → 95
    BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...
    cd14395
    Location:370 → 419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436 → 497
    RING-HC_BIRC4_8; RING finger, HC subclass, found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins

  3. NM_001378590.1 → NP_001365519.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583
    Consensus CDS
    CCDS14606.1
    UniProtKB/Swiss-Prot
    D3DTF2, P98170, Q9NQ14
    UniProtKB/TrEMBL
    B2R9R2
    Related
    ENSP00000347858.3, ENST00000355640.3
    Conserved Domains (4) summary
    smart00238
    Location:162 → 232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:28 → 95
    BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...
    cd14395
    Location:370 → 419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436 → 497
    RING-HC_BIRC4_8; RING finger, HC subclass, found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins

  4. NM_001378591.1 → NP_001365520.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583
    Consensus CDS
    CCDS14606.1
    UniProtKB/Swiss-Prot
    D3DTF2, P98170, Q9NQ14
    UniProtKB/TrEMBL
    B2R9R2
    Related
    ENSP00000405529.2, ENST00000422098.6
    Conserved Domains (4) summary
    smart00238
    Location:162 → 232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:28 → 95
    BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...
    cd14395
    Location:370 → 419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436 → 497
    RING-HC_BIRC4_8; RING finger, HC subclass, found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins

  5. NM_001378592.1 → NP_001365521.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583
    Consensus CDS
    CCDS14606.1
    UniProtKB/Swiss-Prot
    D3DTF2, P98170, Q9NQ14
    UniProtKB/TrEMBL
    B2R9R2
    Conserved Domains (4) summary
    smart00238
    Location:162 → 232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:28 → 95
    BIR; Baculoviral inhibition of apoptosis protein repeat domain; Found in inhibitors of apoptosis proteins (IAPs) and other proteins. In higher eukaryotes, BIR domains inhibit apoptosis by acting as direct inhibitors of the caspase family of protease enzymes. ...
    cd14395
    Location:370 → 419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436 → 497
    RING-HC_BIRC4_8; RING finger, HC subclass, found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins

RNA

  1. NR_037916.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AK309704, AL121601, AL591583, DA316362, H09548

  2. NR_165803.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    123859708..123913972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    122170108..122224373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98170.2 GenPept UniProtKB/Swiss-Prot:P98170

Gene LinkOut

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