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

Gene ID: 331, updated on 27-Nov-2024

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
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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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ26913

Gene Ontology Provided by GOA

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 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 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
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

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_001167.4NP_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:162232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:2895
    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:370419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436497
    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_001204401.2NP_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:162232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:2895
    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:370419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436497
    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_001378590.1NP_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:162232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:2895
    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:370419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436497
    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_001378591.1NP_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:162232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:2895
    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:370419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436497
    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_001378592.1NP_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:162232
    BIR; Baculoviral inhibition of apoptosis protein repeat
    cd00022
    Location:2895
    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:370419
    UBA_BIRC4_8; UBA domain found in E3 ubiquitin-protein ligase XIAP, baculoviral IAP repeat-containing protein 8 (BIRC8) and similar proteins
    cd16714
    Location:436497
    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)