BIRC3

Identity

Other names	API2
	c-IAP2
	HIAP1
	MIHC
	HAIP1
HGNC	BIRC3
Location	11q21

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	BIRC3   591
Entrez_Gene	BIRC3  330  baculoviral IAP repeat-containing 3
	Cards
Atlas	BIRC3ID239
GeneCards	BIRC3
Ensembl	BIRC3 [Search_View]   ENSG00000023445 [Gene_View]
Genatlas	BIRC3
GeneLynx	BIRC3
eGenome	BIRC3
euGene	330
	Genomic and cartography
GoldenPath	BIRC3  -  11q21   chr11:101693404-101713675 +  11q22   [Description]    (hg18-Mar_2006)
Ensembl	BIRC3 - 11q22 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	BIRC3
	Gene and transcription
Genbank	AF070674 [ ENTREZ ]
Genbank	BC027485 [ ENTREZ ]
Genbank	BC037420 [ ENTREZ ]
Genbank	BQ718651 [ ENTREZ ]
Genbank	L49432 [ ENTREZ ]
RefSeq	NM_001165 [ SRS ]    NM_001165 [ ENTREZ ]
RefSeq	NM_182962 [ SRS ]    NM_182962 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033899 [ SRS ]    NT_033899 [ ENTREZ ]
RefSeq	NW_001838042 [ SRS ]    NW_001838042 [ ENTREZ ]
RefSeq	NW_925173 [ SRS ]    NW_925173 [ ENTREZ ]
AceView	BIRC3 AceView - NCBI
Unigene	Hs.127799 [ SRS ]    Hs.127799 [ NCBI ]     HS127799 [ spliceNest ]
Fast-db	13331 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q13489 [ SRS]    Q13489 [ EXPASY ]     Q13489 [ INTERPRO ]     Q13489 [ UNIPROT ]
Prosite	PS01282 BIR_REPEAT_1 [ SRS ]    PS01282 BIR_REPEAT_1 [ Expasy ]
Prosite	PS50143 BIR_REPEAT_2 [ SRS ]    PS50143 BIR_REPEAT_2 [ Expasy ]
Prosite	PS50209 CARD [ SRS ]    PS50209 CARD [ Expasy ]
Prosite	PS00518 ZF_RING_1 [ SRS ]    PS00518 ZF_RING_1 [ Expasy ]
Prosite	PS50089 ZF_RING_2 [ SRS ]    PS50089 ZF_RING_2 [ Expasy ]
Interpro	IPR001315 CARD [ SRS ]    IPR001315 CARD [ EBI ]
Interpro	IPR011029 DEATH_like [ SRS ]    IPR011029 DEATH_like [ EBI ]
Interpro	IPR001370 Prot_inh_I32_IAP [ SRS ]    IPR001370 Prot_inh_I32_IAP [ EBI ]
Interpro	IPR001841 Znf_RING [ SRS ]    IPR001841 Znf_RING [ EBI ]
Interpro	IPR013083 Znf_RING/FYVE/PHD [ SRS ]    IPR013083 Znf_RING/FYVE/PHD [ EBI ]
CluSTr	Q13489
Pfam	PF00653 BIR [ SRS ]    PF00653 BIR [ Sanger ]    pfam00653 [ NCBI-CDD ]
Pfam	PF00619 CARD [ SRS ]    PF00619 CARD [ Sanger ]    pfam00619 [ NCBI-CDD ]
Pfam	PF00097 zf-C3HC4 [ SRS ]    PF00097 zf-C3HC4 [ Sanger ]    pfam00097 [ NCBI-CDD ]
Smart	SM00238 BIR [EMBL]
Smart	SM00114 CARD [EMBL]
Smart	SM00184 RING [EMBL]
Blocks	Q13489
PDB	2UVL [ SRS ]    2UVL [ PdbSum ],   2UVL [ IMB ]   2UVL [ RSDB ]
HPRD	03426
	Protein Interaction databases
DIP	Q13489
IntAct	Q13489
	Polymorphism : SNP, mutations, diseases
OMIM	601721    [ map ]
GENECLINICS	601721
SNP	BIRC3 [dbSNP-NCBI]
SNP	NM_001165 [SNP-NCI]
SNP	NM_182962 [SNP-NCI]
SNP	BIRC3 [GeneSNPs - Utah]  BIRC3] [HGBASE - SRS]
HAPMAP	BIRC3 [HAPMAP]
COSMIC	BIRC3 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	BIRC3 [Translocation breakpoints In Cancer]
HGMD	BIRC3
	General knowledge
Family Browser	BIRC3 [UCSC Family Browser]
SOURCE	NM_001165
SOURCE	NM_182962
SMD	Hs.127799
SAGE	Hs.127799
GO	ubiquitin-protein ligase activity [Amigo]  ubiquitin-protein ligase activity
GO	protein binding [Amigo]  protein binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	anti-apoptosis [Amigo]  anti-apoptosis
GO	cell surface receptor linked signal transduction [Amigo]  cell surface receptor linked signal transduction
GO	zinc ion binding [Amigo]  zinc ion binding
GO	regulation of apoptosis [Amigo]  regulation of apoptosis
GO	metal ion binding [Amigo]  metal ion binding
BIOCARTA	HIV-I Nef: negative effector of Fas and TNF    [Genes]
BIOCARTA	Caspase Cascade in Apoptosis    [Genes]
BIOCARTA	Role of Mitochondria in Apoptotic Signaling    [Genes]
BIOCARTA	SODD/TNFR1 Signaling Pathway    [Genes]
KEGG	Apoptosis
KEGG	Focal adhesion
PubGene	BIRC3
TreeFam	BIRC3
CTD	330 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	BIRC3 Related clones (RZPD - Berlin)
	PubMed
PubMed	69 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	09-2001	Baens 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. 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 : Mon Aug 11 21:12:30 2008