Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BIRC3 baculoviral IAP repeat-containing 3

Identity

Other namesAPI2
c-IAP2
HIAP1
MIHC
HAIP1
HGNC (Hugo) BIRC3
Location 11q21
Location_base_pair Starts at 102188194 and ends at 102208464 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
  

External links

Nomenclature
HGNC (Hugo)BIRC3   591
Entrez_Gene (NCBI)BIRC3  330  baculoviral IAP repeat-containing 3
Cards
AtlasBIRC3ID239
GeneCards (Weizmann)BIRC3
Ensembl (Hinxton)ENSG00000023445 [Gene_View]  BIRC3 [Vega]
AceView (NCBI)BIRC3
Genatlas (Paris)BIRC3
euGene (Indiana)330
SOURCE (Stanford)NM_001165 NM_182962
Gene Expression (Array Express) ENSG00000023445
Genomic and cartography
GoldenPath (UCSC)BIRC3  -  11q21   chr11:102188194-102208464 +  11q22   [Description]    (hg19-Feb_2009)
EnsemblBIRC3 - 11q22 [CytoView]
Mapping of homologs : NCBIBIRC3 [Mapview]
OMIM601721   
Gene and transcription
Gene : Genbank (Entrez)AF070674 BC027485 BC037420 BQ718651 L49432
Reference sequence (RefSeq transcript) :SRSNM_001165 NM_182962
Reference transcript : EntrezNM_001165 NM_182962
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
Consensus coding sequences : CCDS NCBIBIRC3
Cluster EST : UnigeneHs.127799 [ SRS ] Hs.127799 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13331
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ13489 (SRS) Q13489 (Expasy) Q13489 (Uniprot)
With graphics : InterProQ13489
Splice isoforms : VarSplice FASTAQ13489(VarSplice FASTA)
Domaine pattern : Prosite (SRS)BIR_REPEAT_1 (PS01282)    BIR_REPEAT_2 (PS50143)    CARD (PS50209)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domain pattern : Prosite (Expaxy)BIR_REPEAT_1 (PS01282)    BIR_REPEAT_2 (PS50143)    CARD (PS50209)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (SRS)CARD    DEATH-like    Prot_inh_I32_IAP    Znf_RING   
Domains : Interpro (EBI)CARD    DEATH-like    Prot_inh_I32_IAP    Znf_RING   
Related proteins : CluSTrQ13489
Domain families : Pfam SRSBIR (PF00653)    CARD (PF00619)   
Domain families : Pfam SangerBIR (PF00653)    CARD (PF00619)   
Domain families : Pfam NCBIpfam00653    pfam00619   
Domain families : Smart EMBLBIR (SM00238)  CARD (SM00114)  RING (SM00184)  
Blocks (Seattle)Q13489
Crystal structure of protein : PDB SRS2UVL    3EB5    3EB6   
Crystal structure of protein : PDBSum2UVL    3EB5    3EB6   
Crystal structure of protein : IMB2UVL    3EB5    3EB6   
Crystal structure of protein : PDB RSDB2UVL    3EB5    3EB6   
Human Protein AtlasENSG00000023445
HPRD03426
Protein Interaction databases
DIP (DOE-UCLA)Q13489
IntAct (EBI)Q13489
FunCoupENSG00000023445
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIBIRC3
SNP : GeneSNP UtahBIRC3
SNP : HGBaseBIRC3
Genetic variants : HAPMAPBIRC3
Cancer Gene: CensusBIRC3 
Somatic Mutations in Cancer : COSMICBIRC3 
Translocation Breakpoints in Cancer : TICdbBIRC3 
Mutations and Diseases : HGMDBIRC3
Hereditary diseases : OMIM601721   
Hereditary diseases : GENETests601721   
Diseases : Genetic AssociationBIRC3
General knowledge
Homologs : HomoloGeneBIRC3
Homology/Alignments : Family Browser UCSCBIRC3
Phylogenetic Trees/Animal Genes : TreeFamBIRC3
Chemical/Protein Interactions : CTD330
Keywords Ontology : AmiGOubiquitin-protein ligase activity  protein binding  intracellular  nucleus  cytoplasm  anti-apoptosis  cell surface receptor linked signaling pathway  spermatogenesis  zinc ion binding  regulation of apoptosis  protein complex  membrane raft  metal ion binding  protein heterooligomerization  
Keywords Ontology : EGO-EBIubiquitin-protein ligase activity  protein binding  intracellular  nucleus  cytoplasm  anti-apoptosis  cell surface receptor linked signaling pathway  spermatogenesis  zinc ion binding  regulation of apoptosis  protein complex  membrane raft  metal ion binding  protein heterooligomerization  
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 : KEGGFocal adhesionApoptosis
Other databases
Probes
Probes : ImagenesBIRC3 Related clones (RZPD - Berlin)
Literature
PubMed110 Pubmed reference(s) in Entrez
PubGeneBIRC3

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. September 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/BIRC3ID239.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 15 14:42:54 CEST 2010

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.