BIRC3 (baculoviral IAP repeat-containing 3)
2001-09-01 Mathijs Baens , Peter Marynen AffiliationCenter for Human Genetics, Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium
Identity
HGNC
LOCATION
11q22.2
LOCUSID
ALIAS
AIP1,API2,CIAP2,HAIP1,HIAP1,IAP-1,MALT2,MIHC,RNF49,c-IAP2
FUSION GENES
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
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
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.
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10751367 | 2000 | 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 et al |
| 11066071 | 2000 | 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 et al |
| 10979968 | 2000 | Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes. | Dierlamm J et al |
| 10907943 | 2000 | 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 et al |
Other Information
Locus ID:
NCBI: 330
MIM: 601721
HGNC: 591
Ensembl: ENSG00000023445
Variants:
dbSNP: 330
ClinVar: 330
TCGA: ENSG00000023445
COSMIC: BIRC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000023445 | ENST00000263464 | Q13489 |
| ENSG00000023445 | ENST00000527309 | H0YCJ5 |
| ENSG00000023445 | ENST00000532808 | Q13489 |
| ENSG00000023445 | ENST00000615299 | Q13489 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38443362 | 2024 | CircNUP54 promotes hepatocellular carcinoma progression via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA. | 0 |
| 38876304 | 2024 | USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal cancer cells. | 0 |
| 38443362 | 2024 | CircNUP54 promotes hepatocellular carcinoma progression via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA. | 0 |
| 38876304 | 2024 | USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal cancer cells. | 0 |
| 37243389 | 2023 | SNHG1, a KLF4-upregulated gene, promotes glioma cell survival and tumorigenesis under endoplasmic reticulum stress by upregulating BIRC3 expression. | 2 |
| 37406588 | 2023 | Identification of mutation gene prognostic biomarker in multiple myeloma through gene panel exome sequencing and transcriptome analysis in Chinese population. | 1 |
| 38130918 | 2023 | Identification and validation of prognostic and tumor microenvironment characteristics of necroptosis index and BIRC3 in clear cell renal cell carcinoma. | 1 |
| 37243389 | 2023 | SNHG1, a KLF4-upregulated gene, promotes glioma cell survival and tumorigenesis under endoplasmic reticulum stress by upregulating BIRC3 expression. | 2 |
| 37406588 | 2023 | Identification of mutation gene prognostic biomarker in multiple myeloma through gene panel exome sequencing and transcriptome analysis in Chinese population. | 1 |
| 38130918 | 2023 | Identification and validation of prognostic and tumor microenvironment characteristics of necroptosis index and BIRC3 in clear cell renal cell carcinoma. | 1 |
| 34914932 | 2022 | Targeting cIAPs attenuates CCl(4)-induced liver fibrosis by increasing MMP9 expression derived from neutrophils. | 6 |
| 34971648 | 2022 | Multiomics analysis identifies BIRC3 as a novel glucocorticoid response-associated gene. | 6 |
| 34997070 | 2022 | BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia. | 3 |
| 35039877 | 2022 | Proteomic analysis of inhibitor of apoptosis protein‑like protein‑2 on breast cancer cell proliferation. | 0 |
| 35287655 | 2022 | Exploration 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
