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

Gene ID: 331, updated on 22-Nov-2020

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
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

Genomic context

See XIAP in Genome Data Viewer
Location:
Xq25
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (123859708..123913972)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (122993662..123047829)

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 RNA, U6 small nuclear 122, pseudogene Neighboring gene PARD6B pseudogene 1 Neighboring gene uncharacterized LOC101928402 Neighboring gene stromal antigen 2 Neighboring gene zinc finger protein interacting with K protein 1 pseudogene 1

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?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation Page

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

Homology

Clone Names

  • FLJ26913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
copper ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
inhibition of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic spindle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein linear polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of BMP signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
regulation of inflammatory response TAS
Traceable Author Statement
more info
PubMed 
regulation of innate immune response TAS
Traceable Author Statement
more info
PubMed 
regulation of nucleotide-binding oligomerization domain containing signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle microtubule IBA
Inferred from Biological aspect of Ancestor
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)

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
    P98170
    Related
    ENSP00000360242.3, ENST00000371199.7
    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
    pfam13920
    Location:446489
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
  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
    P98170
    UniProtKB/TrEMBL
    B2R9R2
    Related
    ENSP00000395230.3, ENST00000434753.7
    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
    pfam13920
    Location:446489
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
  3. NM_001378590.1NP_001365519.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583
    Related
    ENSP00000347858.3, ENST00000355640.3
  4. NM_001378591.1NP_001365520.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583
  5. NM_001378592.1NP_001365521.1  E3 ubiquitin-protein ligase XIAP

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL591583

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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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