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BIRC3 (baculoviral IAP repeat-containing 3)

Written2001-09Mathijs Baens, Peter Marynen
Center for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium

(Note : for Links provided by Atlas : click)

Identity

Alias_namesAPI2
baculoviral IAP repeat-containing 3
Alias_symbol (synonym)cIAP2
hiap-1
MIHC
RNF49
MALT2
c-IAP2
HGNC (Hugo) BIRC3
LocusID (NCBI) 330
Atlas_Id 239
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102188181 and ends at 102210135 bp from pter ( according to hg19-Feb_2009)  [Mapping BIRC3.png]
Fusion genes
(updated 2016)
BIRC3 (11q22.2) / MALT1 (18q21.32)FOXP1 (3p13) / BIRC3 (11q22.2)MALT1 (18q21.32) / BIRC3 (11q22.2)

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 - Mathijs Baens, 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

Note
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 - Mathijs Baens, 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
  

Bibliography

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
 
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
 
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
 
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
 

Citation

This paper should be referenced as such :
Baens, M ; 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


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  Classification of B-cell non-Hodgkin lymphomas (NHL)
Mucosa-associated lymphoid tissue (MALT) lymphoma
Marginal Zone B-cell lymphoma
t(1;14)(q21;q32) MUC1/IGH
t(3;14)(p14;q32) IGH/FOXP1
t(11;18)(q21;q21) BIRC3/MALT1
Waldenstrom's macroglobulinemia (WM)


External links

Nomenclature
HGNC (Hugo)BIRC3   591
Cards
AtlasBIRC3ID239
Entrez_Gene (NCBI)BIRC3  330  baculoviral IAP repeat containing 3
AliasesAIP1; API2; CIAP2; HAIP1; 
HIAP1; MALT2; MIHC; RNF49; c-IAP2
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
Genetics Home Reference (NIH)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 GalleryENSG00000023445
Gene ExpressionBIRC3 [ NCBI-GEO ]   BIRC3 [ EBI - ARRAY_EXPRESS ]   BIRC3 [ SEEK ]   BIRC3 [ MEM ]
Gene Expression Viewer (FireBrowse)BIRC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)330
GTEX Portal (Tissue expression)BIRC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13489   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13489  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13489
Splice isoforms : SwissVarQ13489
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ13489
Domaine pattern : Prosite (Expaxy)BIR_REPEAT_1 (PS01282)    BIR_REPEAT_2 (PS50143)    CARD (PS50209)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)BIR_rpt    CARD    DEATH-like_dom    Znf_RING   
Domain families : Pfam (Sanger)BIR (PF00653)    CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00653    pfam00619   
Domain families : Smart (EMBL)BIR (SM00238)  CARD (SM00114)  RING (SM00184)  
Conserved Domain (NCBI)BIRC3
DMDM Disease mutations330
Blocks (Seattle)BIRC3
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   
Structural Biology KnowledgeBase2UVL    3EB5    3EB6    3M0A    3M0D   
SCOP (Structural Classification of Proteins)2UVL    3EB5    3EB6    3M0A    3M0D   
CATH (Classification of proteins structures)2UVL    3EB5    3EB6    3M0A    3M0D   
SuperfamilyQ13489
Human Protein AtlasENSG00000023445
Peptide AtlasQ13489
HPRD03426
IPIIPI00013409   IPI00977048   IPI00978602   
Protein Interaction databases
DIP (DOE-UCLA)Q13489
IntAct (EBI)Q13489
FunCoupENSG00000023445
BioGRIDBIRC3
STRING (EMBL)BIRC3
ZODIACBIRC3
Ontologies - Pathways
QuickGOQ13489
Ontology : AmiGOubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  spindle microtubule  cell surface receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  spermatogenesis  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  regulation of necrotic cell death  protein ubiquitination  protein ubiquitination  protein ubiquitination  transferase activity  ligase activity  positive regulation of protein ubiquitination  tumor necrosis factor-mediated signaling pathway  regulation of toll-like receptor signaling pathway  TRIF-dependent toll-like receptor signaling pathway  NIK/NF-kappaB signaling  regulation of RIG-I signaling pathway  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  protein complex  regulation of innate immune response  membrane raft  regulation of inflammatory response  protein heterooligomerization  regulation of necroptotic process  negative regulation of necroptotic process  regulation of nucleotide-binding oligomerization domain containing signaling pathway  mitotic spindle assembly  inhibition of cysteine-type endopeptidase activity involved in apoptotic process  regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  spindle microtubule  cell surface receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  spermatogenesis  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  regulation of necrotic cell death  protein ubiquitination  protein ubiquitination  protein ubiquitination  transferase activity  ligase activity  positive regulation of protein ubiquitination  tumor necrosis factor-mediated signaling pathway  regulation of toll-like receptor signaling pathway  TRIF-dependent toll-like receptor signaling pathway  NIK/NF-kappaB signaling  regulation of RIG-I signaling pathway  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  protein complex  regulation of innate immune response  membrane raft  regulation of inflammatory response  protein heterooligomerization  regulation of necroptotic process  negative regulation of necroptotic process  regulation of nucleotide-binding oligomerization domain containing signaling pathway  mitotic spindle assembly  inhibition of cysteine-type endopeptidase activity involved in apoptotic process  regulation of cysteine-type endopeptidase activity  
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 PathwaysR-HSA-5675482 Regulation of necroptotic cell death [pathway]
REACTOME PathwaysR-HSA-168638 NOD1/2 Signaling Pathway [pathway]
REACTOME PathwaysR-HSA-937041 IKK complex recruitment mediated by RIP1 [pathway]
REACTOME PathwaysR-HSA-5668541 TNFR2 non-canonical NF-kB pathway [pathway]
REACTOME PathwaysR-HSA-5213460 RIPK1-mediated regulated necrosis [pathway]
REACTOME PathwaysR-HSA-5676594 TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway [pathway]
NDEx NetworkBIRC3
Atlas of Cancer Signalling NetworkBIRC3
Wikipedia pathwaysBIRC3
Orthology - Evolution
OrthoDB330
GeneTree (enSembl)ENSG00000023445
Phylogenetic Trees/Animal Genes : TreeFamBIRC3
HOVERGENQ13489
HOGENOMQ13489
Homologs : HomoloGeneBIRC3
Homology/Alignments : Family Browser (UCSC)BIRC3
Gene fusions - Rearrangements
Fusion : MitelmanBIRC3/MALT1 [11q22.2/18q21.32]  
Fusion : MitelmanFOXP1/BIRC3 [3p13/11q22.2]  [t(3;11)(p13;q22)]  
Fusion : TICdbBIRC3 [11q22.2]  -  MALT1 [18q21.32]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBIRC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BIRC3
dbVarBIRC3
ClinVarBIRC3
1000_GenomesBIRC3 
Exome Variant ServerBIRC3
ExAC (Exome Aggregation Consortium)BIRC3 (select the gene name)
Genetic variants : HAPMAP330
Genomic Variants (DGV)BIRC3 [DGVbeta]
DECIPHER (Syndromes)11:102188181-102210135  ENSG00000023445
CONAN: Copy Number AnalysisBIRC3 
Mutations
ICGC Data PortalBIRC3 
TCGA Data PortalBIRC3 
Broad Tumor PortalBIRC3
OASIS PortalBIRC3 [ Somatic mutations - Copy number]
Cancer Gene: CensusBIRC3 
Somatic Mutations in Cancer : COSMICBIRC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBIRC3
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
BioMutasearch BIRC3
DgiDB (Drug Gene Interaction Database)BIRC3
DoCM (Curated mutations)BIRC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BIRC3 (select a term)
intoGenBIRC3
NCG5 (London)BIRC3
Cancer3DBIRC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601721   
Orphanet10694   
MedgenBIRC3
Genetic Testing Registry BIRC3
NextProtQ13489 [Medical]
TSGene330
GENETestsBIRC3
Huge Navigator BIRC3 [HugePedia]
snp3D : Map Gene to Disease330
BioCentury BCIQBIRC3
ClinGenBIRC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD330
Chemical/Pharm GKB GenePA25360
Clinical trialBIRC3
Miscellaneous
canSAR (ICR)BIRC3 (select the gene name)
Probes
Litterature
PubMed228 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBIRC3
EVEXBIRC3
GoPubMedBIRC3
iHOPBIRC3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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