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BIRC3 (baculoviral IAP repeat-containing 3)

Identity

Other namesAPI2
c-IAP2
HIAP1
MIHC
HAIP1
HGNC (Hugo) BIRC3
LocusID (NCBI) 330
Location 11q22.2
Location_base_pair Starts at 102188181 and ends at 102210135 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description centromere to telomere orientation; 10 exons; large 5' untranslated region, start codon in exon 3, stop codon in exon 10.
Transcription 6.5 kb mRNA

Protein

 
  BIRC3 protein - Baens Mathijs, Peter Marynen
Description 68 kDa; 604 amino acids. The protein contains three 'baculovirus inhibition of apoptosis' (BIR) repeats, a caspace recruitment domain or CARD and a carboxyterminal 'Zn-binding' RING domain.
Expression wide, most abundantly in kidney, liver, small intestine and lung
Function Member of the 'inhibitor of apoptosis' (IAP) protein family. Binds to the tumor necrosis factor receptor via its associated factors TRAF1 and TRAF2 and inhibits apoptosis, probably by interfering with activation of caspaces.
Homology with Baculovirus IAP proteins, Drosophila DIAP1 and DIAP2

Implicated in

Entity t(11;18)(q21;q21) / marginal zone B-cell lymphoma ofMALT-type --> BIRC3 - MALT1
Disease B-cell non Hodgkin lymphoma (NHL); marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT); found in extranodal MZBCL or MALT-type, absent in splenic and nodal MZBCL
Prognosis For gastric MALT-type lymphomas, t(11;18) is a clonal marker for resistance to Helicobacter pylori eradication therapy and antigen independent growth
Cytogenetics t(11;18) is frequently associated with deletions affecting 3' API2 on chromosome 11 or 5' MALT1 on chromosome 18.
Hybrid/Mutated Gene 5' API2 on chromosome 11q21 translocated on chromosome 18 in frame with 3' MALT1. Deletions often exclude the expression of the reciprocal 5' MLT ' API2 3' transcript.
Abnormal Protein All MALT-type lymphomas reported with a t(11;18) express an 'in frame' API2-MLT fusion protein with consistently the three BIR domains of API2 fused to the caspace p20 domain and VDJ4-like domain of MLT.
 
BIRC3/MALT1 fusion protein - Baens Mathijs, Peter Marynen
Oncogenesis Transient expression of the API2-MLT fusion protein acitvates an NF-KB luciferase reporter construct, suggesting the involvement of this signaling cascade in MALT lymphomagenesis
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029

External links

Nomenclature
HGNC (Hugo)BIRC3   591
Cards
AtlasBIRC3ID239
Entrez_Gene (NCBI)BIRC3  330  baculoviral IAP repeat containing 3
GeneCards (Weizmann)BIRC3
Ensembl (Hinxton)ENSG00000023445 [Gene_View]  chr11:102188181-102210135 [Contig_View]  BIRC3 [Vega]
ICGC DataPortalENSG00000023445
cBioPortalBIRC3
AceView (NCBI)BIRC3
Genatlas (Paris)BIRC3
WikiGenes330
SOURCE (Princeton)NM_001165 NM_182962
Genomic and cartography
GoldenPath (UCSC)BIRC3  -  11q22.2   chr11:102188181-102210135 +  11q22   [Description]    (hg19-Feb_2009)
EnsemblBIRC3 - 11q22 [CytoView]
Mapping of homologs : NCBIBIRC3 [Mapview]
OMIM601721   
Gene and transcription
Genbank (Entrez)AA805622 AA873008 AF070674 AI880555 BC027485
RefSeq transcript (Entrez)NM_001165 NM_182962
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NT_033899 NW_001838042 NW_004929381
Consensus coding sequences : CCDS (NCBI)BIRC3
Cluster EST : UnigeneHs.127799 [ NCBI ]
CGAP (NCI)Hs.127799
Alternative Splicing : Fast-db (Paris)GSHG0005208
Alternative Splicing GalleryENSG00000023445
Gene ExpressionBIRC3 [ NCBI-GEO ]     BIRC3 [ SEEK ]   BIRC3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13489 (Uniprot)
NextProtQ13489  [Medical]
With graphics : InterProQ13489
Splice isoforms : SwissVarQ13489 (Swissvar)
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)BIR_REPEAT_1 (PS01282)    BIR_REPEAT_2 (PS50143)    CARD (PS50209)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)BIR [organisation]   CARD [organisation]   DEATH-like_dom [organisation]   Znf_RING [organisation]  
Related proteins : CluSTrQ13489
Domain families : Pfam (Sanger)BIR (PF00653)    CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00653    pfam00619   
Domain families : Smart (EMBL)BIR (SM00238)  CARD (SM00114)  RING (SM00184)  
DMDM Disease mutations330
Blocks (Seattle)Q13489
PDB (SRS)2UVL    3EB5    3EB6    3M0A    3M0D   
PDB (PDBSum)2UVL    3EB5    3EB6    3M0A    3M0D   
PDB (IMB)2UVL    3EB5    3EB6    3M0A    3M0D   
PDB (RSDB)2UVL    3EB5    3EB6    3M0A    3M0D   
Human Protein AtlasENSG00000023445 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13489
HPRD03426
IPIIPI00013409   IPI00977048   IPI00978602   
Protein Interaction databases
DIP (DOE-UCLA)Q13489
IntAct (EBI)Q13489
FunCoupENSG00000023445
BioGRIDBIRC3
InParanoidQ13489
Interologous Interaction database Q13489
IntegromeDBBIRC3
STRING (EMBL)BIRC3
Ontologies - Pathways
Ontology : AmiGOtoll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  ubiquitin-protein transferase activity  protein binding  nucleus  nucleolus  cytoplasm  cytosol  apoptotic process  cell surface receptor signaling pathway  spermatogenesis  zinc ion binding  protein ubiquitination  ligase activity  positive regulation of protein ubiquitination  regulation of toll-like receptor signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  NIK/NF-kappaB signaling  regulation of RIG-I signaling pathway  negative regulation of phosphorylation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  innate immune response  regulation of innate immune response  membrane raft  regulation of inflammatory response  protein heterooligomerization  regulation of necroptotic process  negative regulation of necroptotic process  necroptotic process  regulation of nucleotide-binding oligomerization domain containing signaling pathway  regulation of cysteine-type endopeptidase activity  negative regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBItoll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  ubiquitin-protein transferase activity  protein binding  nucleus  nucleolus  cytoplasm  cytosol  apoptotic process  cell surface receptor signaling pathway  spermatogenesis  zinc ion binding  protein ubiquitination  ligase activity  positive regulation of protein ubiquitination  regulation of toll-like receptor signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  NIK/NF-kappaB signaling  regulation of RIG-I signaling pathway  negative regulation of phosphorylation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  innate immune response  regulation of innate immune response  membrane raft  regulation of inflammatory response  protein heterooligomerization  regulation of necroptotic process  negative regulation of necroptotic process  necroptotic process  regulation of nucleotide-binding oligomerization domain containing signaling pathway  regulation of cysteine-type endopeptidase activity  negative regulation of reactive oxygen species metabolic process  
Pathways : BIOCARTACaspase Cascade in Apoptosis [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]    SODD/TNFR1 Signaling Pathway [Genes]    Role of Mitochondria in Apoptotic Signaling [Genes]    Induction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]   
Pathways : KEGGNF-kappa B signaling pathway    Ubiquitin mediated proteolysis    Apoptosis    Focal adhesion    NOD-like receptor signaling pathway    TNF signaling pathway    Toxoplasmosis    Pathways in cancer    Transcriptional misregulation in cancer    Small cell lung cancer   
Protein Interaction DatabaseBIRC3
Wikipedia pathwaysBIRC3
Gene fusion - rearrangments
Rearrangement : TICdbBIRC3 [11q22.2]  -  MALT1 [Xp11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BIRC3
snp3D : Map Gene to Disease330
SNP (GeneSNP Utah)BIRC3
SNP : HGBaseBIRC3
Genetic variants : HAPMAPBIRC3
Exome VariantBIRC3
1000_GenomesBIRC3 
ICGC programENSG00000023445 
Cancer Gene: CensusBIRC3 
Somatic Mutations in Cancer : COSMICBIRC3 
CONAN: Copy Number AnalysisBIRC3 
Mutations and Diseases : HGMDBIRC3
Genomic VariantsBIRC3  BIRC3 [DGVbeta]
dbVarBIRC3
ClinVarBIRC3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601721   
MedgenBIRC3
GENETestsBIRC3
Disease Genetic AssociationBIRC3
Huge Navigator BIRC3 [HugePedia]  BIRC3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneBIRC3
Homology/Alignments : Family Browser (UCSC)BIRC3
Phylogenetic Trees/Animal Genes : TreeFamBIRC3
Chemical/Protein Interactions : CTD330
Chemical/Pharm GKB GenePA25360
Clinical trialBIRC3
Cancer Resource (Charite)ENSG00000023445
Other databases
Probes
Litterature
PubMed192 Pubmed reference(s) in Entrez
CoreMineBIRC3
iHOPBIRC3
OncoSearchBIRC3

Bibliography

The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas.
Dierlamm J, Baens M, Wlodarska I, Stefanova-Ouzounova M, Hernandez JM, Hossfeld DK, De Wolf-Peeters C, Hagemeijer A, Van den Berghe H, Marynen P
Blood. 1999 ; 93 (11) : 3601-3609.
PMID 10339464
 
The product of the t(11;18), an API2-MLT fusion, marks nearly half of gastric MALT type lymphomas without large cell proliferation.
Baens M, Maes B, Steyls A, Geboes K, Marynen P, De Wolf-Peeters C
The American journal of pathology. 2000 ; 156 (4) : 1433-1439.
PMID 10751367
 
The product of the t(11;18), an API2-MLT fusion, is an almost exclusive finding in marginal zone cell lymphoma of extranodal MALT-type.
Maes B, Baens M, Marynen P, De Wolf-Peeters C
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2000 ; 11 (5) : 521-526.
PMID 10907943
 
Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes.
Dierlamm J, Baens M, Stefanova-Ouzounova M, Hinz K, Wlodarska I, Maes B, Steyls A, Driessen A, Verhoef G, Gaulard P, Hagemeijer A, Hossfeld DK, De Wolf-Peeters C, Marynen P
Blood. 2000 ; 96 (6) : 2215-2218.
PMID 10979968
 
Structure of the MLT gene and molecular characterization of the genomic breakpoint junctions in the t(11;18)(q21;q21) of marginal zone B-cell lymphomas of MALT type.
Baens M, Steyls A, Dierlamm J, De Wolf-Peeters C, Marynen P
Genes, chromosomes & cancer. 2000 ; 29 (4) : 281-291.
PMID 11066071
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2001Baens Mathijs, Peter Marynen
Center for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium

Citation

This paper should be referenced as such :
Mathijs, B ; Marynen, P
BIRC3 (baculoviral IAP repeat-containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):3-4.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/BIRC3ID239.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 16:32:11 CEST 2014

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