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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 (NCBI)API2
c-IAP2
HIAP1
MIHC
HAIP1
HGNC (Hugo) BIRC3
HGNC Alias symbcIAP2
hiap-1
MIHC
RNF49
MALT2
c-IAP2
HGNC Alias nameapoptosis inhibitor 2
 TNFR2-TRAF signaling complex protein
 mammalian IAP homolog C
 inhibitor of apoptosis protein 1
HGNC Previous nameAPI2
HGNC Previous namebaculoviral IAP repeat-containing 3
LocusID (NCBI) 330
Atlas_Id 239
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102317484 and ends at 102339403 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping BIRC3.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 / 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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 10 ]
  Classification of B-cell non-Hodgkin lymphomas (NHL)
Heavy chain diseases
Mucosa-associated lymphoid tissue (MALT) lymphoma
Marginal Zone B-cell lymphoma
Ocular adnexal marginal zone lymphoma (OAMZL)
t(1;14)(q21;q32) MUC1::IGH
t(3;14)(p14;q32) IGH::FOXP1
t(11;18)(q21;q21) BIRC3::MALT1
t(3;11)(p13;q22) FOXP1::BIRC3
Waldenstrom's macroglobulinemia (published in 2002)


External links

 

Nomenclature
HGNC (Hugo)BIRC3   591
Cards
AtlasBIRC3ID239
Entrez_Gene (NCBI)BIRC3    baculoviral IAP repeat containing 3
AliasesAIP1; API2; CIAP2; HAIP1; 
HIAP1; IAP-1; MALT2; MIHC; RNF49; c-IAP2
GeneCards (Weizmann)BIRC3
Ensembl hg19 (Hinxton)ENSG00000023445 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023445 [Gene_View]  ENSG00000023445 [Sequence]  chr11:102317484-102339403 [Contig_View]  BIRC3 [Vega]
ICGC DataPortalENSG00000023445
TCGA cBioPortalBIRC3
AceView (NCBI)BIRC3
Genatlas (Paris)BIRC3
SOURCE (Princeton)BIRC3
Genetics Home Reference (NIH)BIRC3
Genomic and cartography
GoldenPath hg38 (UCSC)BIRC3  -     chr11:102317484-102339403 +  11q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BIRC3  -     11q22.2   [Description]    (hg19-Feb_2009)
GoldenPathBIRC3 - 11q22.2 [CytoView hg19]  BIRC3 - 11q22.2 [CytoView hg38]
ImmunoBaseENSG00000023445
Genome Data Viewer NCBIBIRC3 [Mapview hg19]  
OMIM601721   
Gene and transcription
Genbank (Entrez)AA805622 AA873008 AF070674 AI880555 BC027485
RefSeq transcript (Entrez)NM_001165 NM_182962
Consensus coding sequences : CCDS (NCBI)BIRC3
Gene ExpressionBIRC3 [ NCBI-GEO ]   BIRC3 [ EBI - ARRAY_EXPRESS ]   BIRC3 [ SEEK ]   BIRC3 [ MEM ]
Gene Expression Viewer (FireBrowse)BIRC3 [ Firebrowse - Broad ]
GenevisibleExpression of BIRC3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)330
GTEX Portal (Tissue expression)BIRC3
Human Protein AtlasENSG00000023445-BIRC3 [pathology]   [cell]   [tissue]
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
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_sf    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
PDB (RSDB)2UVL    3EB5    3EB6    3M0A    3M0D   
PDB Europe2UVL    3EB5    3EB6    3M0A    3M0D   
PDB (PDBSum)2UVL    3EB5    3EB6    3M0A    3M0D   
PDB (IMB)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
AlphaFold pdb e-kbQ13489   
Human Protein Atlas [tissue]ENSG00000023445-BIRC3 [tissue]
HPRD03426
Protein Interaction databases
DIP (DOE-UCLA)Q13489
IntAct (EBI)Q13489
BioGRIDBIRC3
STRING (EMBL)BIRC3
ZODIACBIRC3
Ontologies - Pathways
QuickGOQ13489
Ontology : AmiGOMyD88-independent toll-like receptor signaling pathway  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  apoptotic process  cell surface receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  spermatogenesis  regulation of tumor necrosis factor-mediated signaling pathway  protein ubiquitination  protein deubiquitination  transferase activity  positive regulation of protein ubiquitination  positive regulation of protein ubiquitination  protein-containing complex  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  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein-containing complex binding  regulation of innate immune response  membrane raft  metal ion binding  regulation of inflammatory response  regulation of cell cycle  regulation of necroptotic process  regulation of necroptotic process  negative regulation of necroptotic process  ubiquitin protein ligase activity  regulation of nucleotide-binding oligomerization domain containing signaling pathway  regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIMyD88-independent toll-like receptor signaling pathway  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  apoptotic process  cell surface receptor signaling pathway  I-kappaB kinase/NF-kappaB signaling  spermatogenesis  regulation of tumor necrosis factor-mediated signaling pathway  protein ubiquitination  protein deubiquitination  transferase activity  positive regulation of protein ubiquitination  positive regulation of protein ubiquitination  protein-containing complex  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  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein-containing complex binding  regulation of innate immune response  membrane raft  metal ion binding  regulation of inflammatory response  regulation of cell cycle  regulation of necroptotic process  regulation of necroptotic process  negative regulation of necroptotic process  ubiquitin protein ligase activity  regulation of nucleotide-binding oligomerization domain containing signaling pathway  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-937041 [pathway]   
NDEx NetworkBIRC3
Atlas of Cancer Signalling NetworkBIRC3
Wikipedia pathwaysBIRC3
Orthology - Evolution
OrthoDB330
GeneTree (enSembl)ENSG00000023445
Phylogenetic Trees/Animal Genes : TreeFamBIRC3
Homologs : HomoloGeneBIRC3
Homology/Alignments : Family Browser (UCSC)BIRC3
Gene fusions - Rearrangements
Fusion : MitelmanBIRC3::MALT1 [11q22.2/18q21.32]  
Fusion : MitelmanFOXP1::BIRC3 [3p13/11q22.2]  
Fusion : QuiverBIRC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBIRC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BIRC3
dbVarBIRC3
ClinVarBIRC3
MonarchBIRC3
1000_GenomesBIRC3 
Exome Variant ServerBIRC3
GNOMAD BrowserENSG00000023445
Varsome BrowserBIRC3
ACMGBIRC3 variants
VarityQ13489
Genomic Variants (DGV)BIRC3 [DGVbeta]
DECIPHERBIRC3 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DBIRC3
Mutations and Diseases : HGMDBIRC3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBIRC3
DgiDB (Drug Gene Interaction Database)BIRC3
DoCM (Curated mutations)BIRC3
CIViC (Clinical Interpretations of Variants in Cancer)BIRC3
OncoKBBIRC3
NCG (London)BIRC3
Cancer3DBIRC3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601721   
Orphanet10694   
DisGeNETBIRC3
MedgenBIRC3
Genetic Testing Registry BIRC3
NextProtQ13489 [Medical]
GENETestsBIRC3
Target ValidationBIRC3
Huge Navigator BIRC3 [HugePedia]
ClinGenBIRC3
Clinical trials, drugs, therapy
MyCancerGenomeBIRC3
Protein Interactions : CTDBIRC3
Pharm GKB GenePA25360
PharosQ13489
Clinical trialBIRC3
Miscellaneous
canSAR (ICR)BIRC3
HarmonizomeBIRC3
DataMed IndexBIRC3
Probes
Litterature
PubMed270 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBIRC3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:13:29 CEST 2021

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