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

    Gene ID: 331, updated on 4-Jan-2025

    Summary

    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
    NEW
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    Genomic context

    See XIAP in Genome Data Viewer
    Location:
    Xq25
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (123859708..123913972)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (122170108..122224373)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (22 hits/943 screens)

    Associated conditions

    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

    HIV-1 interactions

    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

    Interactions

    General gene information

    Clone Names

    • FLJ26913

    Gene Ontology Provided by GOA

    Items 1 - 25 of 31
    Process Evidence Code Pubs
    involved_in DNA damage response PubMed 
    involved_in Wnt signaling pathway  
    involved_in copper ion homeostasis PubMed 
    involved_in defense response to bacterium PubMed 
    involved_in inhibition of cysteine-type endopeptidase activity PubMed 
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity PubMed 
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway PubMed 
    involved_in neuron apoptotic process  
    involved_in nucleotide-binding oligomerization domain containing 1 signaling pathway PubMed 
    involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway PubMed 
    involved_in positive regulation of JNK cascade PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway  
    involved_in positive regulation of canonical Wnt signaling pathway PubMed 
    involved_in positive regulation of protein linear polyubiquitination PubMed 
    involved_in positive regulation of protein ubiquitination  
    involved_in positive regulation of protein ubiquitination PubMed 
    involved_in positive regulation of type I interferon production PubMed 
    involved_in protein K63-linked ubiquitination PubMed 
    involved_in regulation of BMP signaling pathway PubMed 
    involved_in regulation of apoptosis involved in tissue homeostasis  
    acts_upstream_of_negative_effect regulation of apoptotic process PubMed 
    involved_in regulation of cell cycle  
    involved_in regulation of cell population proliferation PubMed 
    involved_in regulation of inflammatory response PubMed 
    involved_in regulation of innate immune response PubMed 
    involved_in regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway PubMed 
    involved_in response to lipopolysaccharide  
    Items 1 - 25 of 31
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    is_active_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_2024_08

    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)
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