Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BIRC3 (baculoviral IAP repeat-containing 3)

Identity

Other namesAIP1
API2
CIAP2
HAIP1
HIAP1
MALT2
MIHC
RNF49
c-IAP2
HGNC (Hugo) BIRC3
LocusID (NCBI) 330
Atlas_Id 239
Location 11q22.2
Location_base_pair Starts at 102188181 and ends at 102210135 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes (updated 2015)BIRC3/MALT1 (11q22.2/18q21.32)BIRC3/MALT1 (11q22.2/18q21.32)

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 BNHLClassifID2067 MALTlymphID2095 t0114q21q32MUC1ID1342 t1118ID2022

External links

Nomenclature
HGNC (Hugo)BIRC3   591
Cards
AtlasBIRC3ID239
Entrez_Gene (NCBI)BIRC3  330  baculoviral IAP repeat containing 3
GeneCards (Weizmann)BIRC3
Ensembl hg19 (Hinxton)ENSG00000023445 [Gene_View]  chr11:102188181-102210135 [Contig_View]  BIRC3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000023445 [Gene_View]  chr11:102188181-102210135 [Contig_View]  BIRC3 [Vega]
ICGC DataPortalENSG00000023445
TCGA cBioPortalBIRC3
AceView (NCBI)BIRC3
Genatlas (Paris)BIRC3
WikiGenes330
SOURCE (Princeton)BIRC3
Genomic and cartography
GoldenPath hg19 (UCSC)BIRC3  -     chr11:102188181-102210135 +  11q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BIRC3  -     11q22   [Description]    (hg38-Dec_2013)
EnsemblBIRC3 - 11q22 [CytoView hg19]  BIRC3 - 11q22 [CytoView hg38]
Mapping of homologs : NCBIBIRC3 [Mapview hg19]  BIRC3 [Mapview hg38]
OMIM601721   
Gene and transcription
Genbank (Entrez)AA805622 AA873008 AF070674 AI880555 BC027485
RefSeq transcript (Entrez)NM_001165 NM_182962
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_033899 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13489 (Uniprot)
NextProtQ13489  [Medical]  [Publications]
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    CARD    DEATH-like_dom    Znf_RING   
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
Peptide AtlasQ13489
HPRD03426
IPIIPI00013409   IPI00977048   IPI00978602   
Protein Interaction databases
DIP (DOE-UCLA)Q13489
IntAct (EBI)Q13489
FunCoupENSG00000023445
BioGRIDBIRC3
IntegromeDBBIRC3
STRING (EMBL)BIRC3
ZODIACBIRC3
Ontologies - Pathways
QuickGOQ13489
Ontology : AmiGOtoll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  spindle microtubule  cell surface receptor signaling pathway  spermatogenesis  zinc ion binding  regulation of necrotic cell death  programmed cell death  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  cysteine-type endopeptidase inhibitor activity involved in apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  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  mitotic spindle assembly  programmed necrotic cell death  inhibition of cysteine-type endopeptidase activity involved in apoptotic process  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  nucleoplasm  cytoplasm  cytosol  spindle microtubule  cell surface receptor signaling pathway  spermatogenesis  zinc ion binding  regulation of necrotic cell death  programmed cell death  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  cysteine-type endopeptidase inhibitor activity involved in apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  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  mitotic spindle assembly  programmed necrotic cell death  inhibition of cysteine-type endopeptidase activity involved in apoptotic process  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   
REACTOMEQ13489 [protein]
REACTOME PathwaysREACT_6900 Immune System [pathway]
Protein Interaction DatabaseBIRC3
Atlas of Cancer Signalling NetworkBIRC3
Wikipedia pathwaysBIRC3
Gene fusion - Rearrangements
Fusion: TCGA
Fusion : TICdbBIRC3 [11q22.2]  -  MALT1 [18q21.32]
Fusion Cancer (Beijing)UFC1 [1q23.3]  -  BIRC3 [11q22.2]  [FUSC000688]
Polymorphisms : SNP, variants
NCBI Variation ViewerBIRC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BIRC3
dbVarBIRC3
ClinVarBIRC3
1000_GenomesBIRC3 
Exome Variant ServerBIRC3
SNP (GeneSNP Utah)BIRC3
SNP : HGBaseBIRC3
Genetic variants : HAPMAPBIRC3
Genomic Variants (DGV)BIRC3 [DGVbeta]
Mutations
ICGC Data PortalBIRC3 
TCGA Data PortalBIRC3 
Tumor PortalBIRC3
Cancer Gene: CensusBIRC3 
Somatic Mutations in Cancer : COSMICBIRC3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DoCM (Curated mutations) BIRC3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:102188181-102210135
CONAN: Copy Number AnalysisBIRC3 
Mutations and Diseases : HGMDBIRC3
OMIM601721   
MedgenBIRC3
NextProtQ13489 [Medical]
GENETestsBIRC3
Disease Genetic AssociationBIRC3
Huge Navigator BIRC3 [HugePedia]  BIRC3 [HugeCancerGEM]
snp3D : Map Gene to Disease330
DGIdb (Drug Gene Interaction db)BIRC3
BioCentury BCIQBIRC3
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
PubMed217 Pubmed reference(s) in Entrez
CoreMineBIRC3
GoPubMedBIRC3
iHOPBIRC3

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

Search in all EBI   NCBI

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 journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BIRC3ID239.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Aug 28 19:23:15 CEST 2015

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