Human Gene BIRC6 (ENST00000421745.7_4) from GENCODE V45lift37
Description: Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), transcript variant 1, mRNA. (from RefSeq NM_016252) RefSeq Summary (NM_016252): This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. Gencode Transcript: ENST00000421745.7_4 Gencode Gene: ENSG00000115760.16_12 Transcript (Including UTRs) Position: hg19 chr2:32,582,091-32,843,945 Size: 261,855 Total Exon Count: 74 Strand: + Coding Region Position: hg19 chr2:32,582,230-32,842,971 Size: 260,742 Coding Exon Count: 74
ID:BIRC6_HUMAN DESCRIPTION: RecName: Full=Baculoviral IAP repeat-containing protein 6; EC=2.3.2.27 ; AltName: Full=BIR repeat-containing ubiquitin-conjugating enzyme; Short=BRUCE; AltName: Full=RING-type E3 ubiquitin transferase BIRC6 ; AltName: Full=Ubiquitin-conjugating BIR domain enzyme apollon; Short=APOLLON; FUNCTION: Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its targets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also for the integrity of the midbody and the midbody ring, and its striking ubiquitin modification. CATALYTIC ACTIVITY: Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence= ACTIVITY REGULATION: Inhibited by DIABLO/SMAC, HTRA2, CASP3, CASP6, CASP7 and CASP9. SUBUNIT: Homodimer. Binds the activated, processed forms of CASP3, CASP6, CASP7 and CASP9. Interacts with RNF41, DIABLO/SMAC, HTRA2, KIF23/MKLP1, USP8/UBPY, BIRC5/survivin, MAP2K1/MEK1, RAB8A/RAB8, RAB11A/RAB11, PLK1, EXOC3/SEC6 and EXOC4/SEC8. INTERACTION: Q9NR09; Q96A65: EXOC4; NbExp=3; IntAct=EBI-1765160, EBI-355383; Q9NR09; Q02241: KIF23; NbExp=4; IntAct=EBI-1765160, EBI-306852; Q9NR09; Q02750: MAP2K1; NbExp=2; IntAct=EBI-1765160, EBI-492564; Q9NR09; P53350: PLK1; NbExp=4; IntAct=EBI-1765160, EBI-476768; SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane Endosome Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Midbody, Midbody ring Note=Exhibits cell cycle-dependent localization. Concentrates in a pericentriolar compartment in interphase, moves partially to spindle poles in metaphase, and finally localizes to the spindle midzone and the midbody in telophase and during cytokinesis. On the midbody, localizes to the midbody ring, also called Flemming body (PubMed:18329369). In interphase cells, localizes to the trans-Golgi network membrane and endosomes. During cytokinesis, a fraction moves to the midzone where it specifically arrives at the midbody ring. After abscission completion, travels with the midbody remnant into one daughter cell, and remains bound to it until a new midbody ring is formed during the next cell division (PubMed:18329369). TISSUE SPECIFICITY: Expressed in brain cancer cells. DOMAIN: The BIR domain is essential for its antiapoptotic function and is important for binding to DIABLO/SMAC and CASP9. PTM: Ubiquitinated. Ubiquitination is mediated by the RNF41 E3 ligase and leads to proteasomal degradation, impairing inhibition of apoptosis. Deubiquitinated by USP8/UBPY. SIMILARITY: In the C-terminal section; belongs to the ubiquitin- conjugating enzyme family. SEQUENCE CAUTION: Sequence=BAA86603.2; Type=Frameshift; Evidence=; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/798/BIRC6";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NR09
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Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001890 placenta development GO:0006468 protein phosphorylation GO:0006511 ubiquitin-dependent protein catabolic process GO:0006915 apoptotic process GO:0007049 cell cycle GO:0008284 positive regulation of cell proliferation GO:0010466 negative regulation of peptidase activity GO:0010951 negative regulation of endopeptidase activity GO:0016567 protein ubiquitination GO:0032465 regulation of cytokinesis GO:0042127 regulation of cell proliferation GO:0043066 negative regulation of apoptotic process GO:0051301 cell division GO:0060711 labyrinthine layer development GO:0060712 spongiotrophoblast layer development GO:2001237 negative regulation of extrinsic apoptotic signaling pathway