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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:32,582,091-32,843,945)mRNA (may differ from genome)Protein (4857 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BIRC6
Diseases sorted by gene-association score: brain cancer (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.22 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 309.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.30139-0.283 Picture PostScript Text
3' UTR -201.20974-0.207 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001370 - BIR_rpt
IPR022103 - BIRC6
IPR000608 - UBQ-conjugat_E2
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF00653 - Inhibitor of Apoptosis domain
PF12356 - Baculoviral IAP repeat-containing protein 6
PF00179 - Ubiquitin-conjugating enzyme

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3CEG - X-ray 8ATM - EM 8ATO - EM 8ATU - EM 8ATX - EM 8AUK - EM 8AUW - EM 8E2D - EM 8E2E - EM 8E2F - EM 8E2G - EM 8E2H - EM 8E2I - EM 8E2K - EM


ModBase Predicted Comparative 3D Structure on Q9NR09
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0030414 peptidase inhibitor activity
GO:0061631 ubiquitin conjugating enzyme activity

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

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0030496 midbody
GO:0090543 Flemming body


-  Descriptions from all associated GenBank mRNAs
  LF385219 - JP 2014500723-A/192722: Polycomb-Associated Non-Coding RNAs.
AF265555 - Homo sapiens ubiquitin-conjugating BIR-domain enzyme APOLLON mRNA, complete cds.
AB033115 - Homo sapiens mRNA for KIAA1289 protein, partial cds.
AK023848 - Homo sapiens cDNA FLJ13786 fis, clone PLACE4000654, highly similar to Mus musculus mRNA for ubiquitin conjugating enzyme.
AK023788 - Homo sapiens cDNA FLJ13726 fis, clone PLACE3000059, highly similar to Mus musculus mRNA for ubiquitin conjugating enzyme.
MA620796 - JP 2018138019-A/192722: Polycomb-Associated Non-Coding RNAs.
LF342052 - JP 2014500723-A/149555: Polycomb-Associated Non-Coding RNAs.
LF342060 - JP 2014500723-A/149563: Polycomb-Associated Non-Coding RNAs.
LF342061 - JP 2014500723-A/149564: Polycomb-Associated Non-Coding RNAs.
LF342062 - JP 2014500723-A/149565: Polycomb-Associated Non-Coding RNAs.
MA577629 - JP 2018138019-A/149555: Polycomb-Associated Non-Coding RNAs.
MA577637 - JP 2018138019-A/149563: Polycomb-Associated Non-Coding RNAs.
MA577638 - JP 2018138019-A/149564: Polycomb-Associated Non-Coding RNAs.
MA577639 - JP 2018138019-A/149565: Polycomb-Associated Non-Coding RNAs.
LF342064 - JP 2014500723-A/149567: Polycomb-Associated Non-Coding RNAs.
LF342065 - JP 2014500723-A/149568: Polycomb-Associated Non-Coding RNAs.
LF342066 - JP 2014500723-A/149569: Polycomb-Associated Non-Coding RNAs.
LF342067 - JP 2014500723-A/149570: Polycomb-Associated Non-Coding RNAs.
LF342068 - JP 2014500723-A/149571: Polycomb-Associated Non-Coding RNAs.
LF342069 - JP 2014500723-A/149572: Polycomb-Associated Non-Coding RNAs.
LF342070 - JP 2014500723-A/149573: Polycomb-Associated Non-Coding RNAs.
LF342072 - JP 2014500723-A/149575: Polycomb-Associated Non-Coding RNAs.
LF342073 - JP 2014500723-A/149576: Polycomb-Associated Non-Coding RNAs.
LF342076 - JP 2014500723-A/149579: Polycomb-Associated Non-Coding RNAs.
DL491483 - Novel nucleic acids.
LF342077 - JP 2014500723-A/149580: Polycomb-Associated Non-Coding RNAs.
LF342078 - JP 2014500723-A/149581: Polycomb-Associated Non-Coding RNAs.
LF342079 - JP 2014500723-A/149582: Polycomb-Associated Non-Coding RNAs.
LF342080 - JP 2014500723-A/149583: Polycomb-Associated Non-Coding RNAs.
LF342081 - JP 2014500723-A/149584: Polycomb-Associated Non-Coding RNAs.
LF342089 - JP 2014500723-A/149592: Polycomb-Associated Non-Coding RNAs.
LF342090 - JP 2014500723-A/149593: Polycomb-Associated Non-Coding RNAs.
LF342091 - JP 2014500723-A/149594: Polycomb-Associated Non-Coding RNAs.
LF342092 - JP 2014500723-A/149595: Polycomb-Associated Non-Coding RNAs.
LF342093 - JP 2014500723-A/149596: Polycomb-Associated Non-Coding RNAs.
LF342094 - JP 2014500723-A/149597: Polycomb-Associated Non-Coding RNAs.
LF342095 - JP 2014500723-A/149598: Polycomb-Associated Non-Coding RNAs.
LF342096 - JP 2014500723-A/149599: Polycomb-Associated Non-Coding RNAs.
LF342098 - JP 2014500723-A/149601: Polycomb-Associated Non-Coding RNAs.
LF342099 - JP 2014500723-A/149602: Polycomb-Associated Non-Coding RNAs.
LF342100 - JP 2014500723-A/149603: Polycomb-Associated Non-Coding RNAs.
LF342101 - JP 2014500723-A/149604: Polycomb-Associated Non-Coding RNAs.
LF342102 - JP 2014500723-A/149605: Polycomb-Associated Non-Coding RNAs.
LF342103 - JP 2014500723-A/149606: Polycomb-Associated Non-Coding RNAs.
DL491895 - Novel nucleic acids.
DL490458 - Novel nucleic acids.
LF342107 - JP 2014500723-A/149610: Polycomb-Associated Non-Coding RNAs.
LF342108 - JP 2014500723-A/149611: Polycomb-Associated Non-Coding RNAs.
LF342109 - JP 2014500723-A/149612: Polycomb-Associated Non-Coding RNAs.
LF342110 - JP 2014500723-A/149613: Polycomb-Associated Non-Coding RNAs.
LF342112 - JP 2014500723-A/149615: Polycomb-Associated Non-Coding RNAs.
LF342113 - JP 2014500723-A/149616: Polycomb-Associated Non-Coding RNAs.
LF342114 - JP 2014500723-A/149617: Polycomb-Associated Non-Coding RNAs.
MA577641 - JP 2018138019-A/149567: Polycomb-Associated Non-Coding RNAs.
MA577642 - JP 2018138019-A/149568: Polycomb-Associated Non-Coding RNAs.
MA577643 - JP 2018138019-A/149569: Polycomb-Associated Non-Coding RNAs.
MA577644 - JP 2018138019-A/149570: Polycomb-Associated Non-Coding RNAs.
MA577645 - JP 2018138019-A/149571: Polycomb-Associated Non-Coding RNAs.
MA577646 - JP 2018138019-A/149572: Polycomb-Associated Non-Coding RNAs.
MA577647 - JP 2018138019-A/149573: Polycomb-Associated Non-Coding RNAs.
MA577649 - JP 2018138019-A/149575: Polycomb-Associated Non-Coding RNAs.
MA577650 - JP 2018138019-A/149576: Polycomb-Associated Non-Coding RNAs.
MA577653 - JP 2018138019-A/149579: Polycomb-Associated Non-Coding RNAs.
MA577654 - JP 2018138019-A/149580: Polycomb-Associated Non-Coding RNAs.
MA577655 - JP 2018138019-A/149581: Polycomb-Associated Non-Coding RNAs.
MA577656 - JP 2018138019-A/149582: Polycomb-Associated Non-Coding RNAs.
MA577657 - JP 2018138019-A/149583: Polycomb-Associated Non-Coding RNAs.
MA577658 - JP 2018138019-A/149584: Polycomb-Associated Non-Coding RNAs.
MA577666 - JP 2018138019-A/149592: Polycomb-Associated Non-Coding RNAs.
MA577667 - JP 2018138019-A/149593: Polycomb-Associated Non-Coding RNAs.
MA577668 - JP 2018138019-A/149594: Polycomb-Associated Non-Coding RNAs.
MA577669 - JP 2018138019-A/149595: Polycomb-Associated Non-Coding RNAs.
MA577670 - JP 2018138019-A/149596: Polycomb-Associated Non-Coding RNAs.
MA577671 - JP 2018138019-A/149597: Polycomb-Associated Non-Coding RNAs.
MA577672 - JP 2018138019-A/149598: Polycomb-Associated Non-Coding RNAs.
MA577673 - JP 2018138019-A/149599: Polycomb-Associated Non-Coding RNAs.
MA577675 - JP 2018138019-A/149601: Polycomb-Associated Non-Coding RNAs.
MA577676 - JP 2018138019-A/149602: Polycomb-Associated Non-Coding RNAs.
MA577677 - JP 2018138019-A/149603: Polycomb-Associated Non-Coding RNAs.
MA577678 - JP 2018138019-A/149604: Polycomb-Associated Non-Coding RNAs.
MA577679 - JP 2018138019-A/149605: Polycomb-Associated Non-Coding RNAs.
MA577680 - JP 2018138019-A/149606: Polycomb-Associated Non-Coding RNAs.
MA577684 - JP 2018138019-A/149610: Polycomb-Associated Non-Coding RNAs.
MA577685 - JP 2018138019-A/149611: Polycomb-Associated Non-Coding RNAs.
MA577686 - JP 2018138019-A/149612: Polycomb-Associated Non-Coding RNAs.
MA577687 - JP 2018138019-A/149613: Polycomb-Associated Non-Coding RNAs.
MA577689 - JP 2018138019-A/149615: Polycomb-Associated Non-Coding RNAs.
MA577690 - JP 2018138019-A/149616: Polycomb-Associated Non-Coding RNAs.
MA577691 - JP 2018138019-A/149617: Polycomb-Associated Non-Coding RNAs.
LF342115 - JP 2014500723-A/149618: Polycomb-Associated Non-Coding RNAs.
LF342118 - JP 2014500723-A/149621: Polycomb-Associated Non-Coding RNAs.
LF342119 - JP 2014500723-A/149622: Polycomb-Associated Non-Coding RNAs.
LF342121 - JP 2014500723-A/149624: Polycomb-Associated Non-Coding RNAs.
LF342122 - JP 2014500723-A/149625: Polycomb-Associated Non-Coding RNAs.
LF342124 - JP 2014500723-A/149627: Polycomb-Associated Non-Coding RNAs.
LF342125 - JP 2014500723-A/149628: Polycomb-Associated Non-Coding RNAs.
LF342126 - JP 2014500723-A/149629: Polycomb-Associated Non-Coding RNAs.
LF342127 - JP 2014500723-A/149630: Polycomb-Associated Non-Coding RNAs.
JD020130 - Sequence 1154 from Patent EP1572962.
JD028611 - Sequence 9635 from Patent EP1572962.
LF342128 - JP 2014500723-A/149631: Polycomb-Associated Non-Coding RNAs.
JD023526 - Sequence 4550 from Patent EP1572962.
LF342129 - JP 2014500723-A/149632: Polycomb-Associated Non-Coding RNAs.
JD031836 - Sequence 12860 from Patent EP1572962.
MA577692 - JP 2018138019-A/149618: Polycomb-Associated Non-Coding RNAs.
MA577695 - JP 2018138019-A/149621: Polycomb-Associated Non-Coding RNAs.
MA577696 - JP 2018138019-A/149622: Polycomb-Associated Non-Coding RNAs.
MA577698 - JP 2018138019-A/149624: Polycomb-Associated Non-Coding RNAs.
MA577699 - JP 2018138019-A/149625: Polycomb-Associated Non-Coding RNAs.
MA577701 - JP 2018138019-A/149627: Polycomb-Associated Non-Coding RNAs.
MA577702 - JP 2018138019-A/149628: Polycomb-Associated Non-Coding RNAs.
MA577703 - JP 2018138019-A/149629: Polycomb-Associated Non-Coding RNAs.
MA577704 - JP 2018138019-A/149630: Polycomb-Associated Non-Coding RNAs.
MA577705 - JP 2018138019-A/149631: Polycomb-Associated Non-Coding RNAs.
MA577706 - JP 2018138019-A/149632: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BIRC6_HUMAN, ENST00000421745.1, ENST00000421745.2, ENST00000421745.3, ENST00000421745.4, ENST00000421745.5, ENST00000421745.6, KIAA1289, NM_016252, Q9NR09, Q9ULD1, uc319rdn.1
UCSC ID: ENST00000421745.7_4
RefSeq Accession: NM_016252
Protein: Q9NR09 (aka BIRC6_HUMAN or BIR6_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.