BIRC3 (baculoviral IAP repeat-containing 3)

2001-09-01   Mathijs Baens  , Peter Marynen  

Center for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium

Identity

HGNC
BIRC3
LOCATION
11q22.2
LOCUSID
330
ALIAS
AIP1,API2,CIAP2,HAIP1,HIAP1,IAP-1,MALT2,MIHC,RNF49,c-IAP2
FUSION GENES
Show Gene Fusions

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

Proteins

Atlas Image
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

Entity name
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 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.
Fusion 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.
Atlas Image
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

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 330
MIM: 601721
HGNC: 591
Ensembl: ENSG00000023445

Variants:

dbSNP: 330
ClinVar: 330
TCGA: ENSG00000023445
COSMIC: BIRC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000023445ENST00000263464Q13489
ENSG00000023445ENST00000527309H0YCJ5
ENSG00000023445ENST00000532808Q13489
ENSG00000023445ENST00000615299Q13489

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
ApoptosisKEGGko04210
Focal adhesionKEGGko04510
Small cell lung cancerKEGGko05222
Ubiquitin mediated proteolysisKEGGhsa04120
ApoptosisKEGGhsa04210
Focal adhesionKEGGhsa04510
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
TNF signaling pathwayKEGGhsa04668
TNF signaling pathwayKEGGko04668
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
IKK complex recruitment mediated by RIP1REACTOMER-HSA-937041
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
NOD1/2 Signaling PathwayREACTOMER-HSA-168638
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
TNFR2 non-canonical NF-kB pathwayREACTOMER-HSA-5668541
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathwayREACTOMER-HSA-5676594
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
Programmed Cell DeathREACTOMER-HSA-5357801
Regulated NecrosisREACTOMER-HSA-5218859
RIPK1-mediated regulated necrosisREACTOMER-HSA-5213460
Regulation of necroptotic cell deathREACTOMER-HSA-5675482
TNFR1-induced NFkappaB signaling pathwayREACTOMER-HSA-5357956
Regulation of TNFR1 signalingREACTOMER-HSA-5357905
Apoptosis - multiple speciesKEGGko04215
Apoptosis - multiple speciesKEGGhsa04215
Platinum drug resistanceKEGGko01524
Platinum drug resistanceKEGGhsa01524
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384433622024CircNUP54 promotes hepatocellular carcinoma progression via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA.0
388763042024USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal cancer cells.0
384433622024CircNUP54 promotes hepatocellular carcinoma progression via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA.0
388763042024USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal cancer cells.0
372433892023SNHG1, a KLF4-upregulated gene, promotes glioma cell survival and tumorigenesis under endoplasmic reticulum stress by upregulating BIRC3 expression.2
374065882023Identification of mutation gene prognostic biomarker in multiple myeloma through gene panel exome sequencing and transcriptome analysis in Chinese population.1
381309182023Identification and validation of prognostic and tumor microenvironment characteristics of necroptosis index and BIRC3 in clear cell renal cell carcinoma.1
372433892023SNHG1, a KLF4-upregulated gene, promotes glioma cell survival and tumorigenesis under endoplasmic reticulum stress by upregulating BIRC3 expression.2
374065882023Identification of mutation gene prognostic biomarker in multiple myeloma through gene panel exome sequencing and transcriptome analysis in Chinese population.1
381309182023Identification and validation of prognostic and tumor microenvironment characteristics of necroptosis index and BIRC3 in clear cell renal cell carcinoma.1
349149322022Targeting cIAPs attenuates CCl(4)-induced liver fibrosis by increasing MMP9 expression derived from neutrophils.6
349716482022Multiomics analysis identifies BIRC3 as a novel glucocorticoid response-associated gene.6
349970702022BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.3
350398772022Proteomic analysis of inhibitor of apoptosis protein‑like protein‑2 on breast cancer cell proliferation.0
352876552022Exploration of induced sputum BIRC3 levels and clinical implications in asthma.3

Citation

Mathijs Baens ; Peter Marynen

BIRC3 (baculoviral IAP repeat-containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2001-09-01

Online version: http://atlasgeneticsoncology.org/gene/239/tumors-explorer/gene-fusions/js/template.js