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FLASH GENE

Symbol

BIRC6

contributors: mct/npt - updated : 28-04-2015

HGNC name	baculoviral IAP repeat-containing 6 (apollon)
HGNC id	13516

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	261.87 kb     74 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016252 74 - 15718 NP_057336 - 4857 - 2008 18329369

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Reproductive female system breast mammary gland   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage
cell lines	brain and ovary cancer cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal baculovirus IAP repeat (BIR domain)
	ubiquitin-conjugating enzyme (UBC) domain at the carboxy terminus

HOMOLOGY

interspecies

homolog to murine Bruce

Homologene

FAMILY

baculovirus IAP related family

CATEGORY

regulatory , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	filamentous pattern through cytoplasm

basic FUNCTION	playing a role in tumorigenesis (brain cancer) and drug resistance of the SNB-78 cell linee at least
	multifunctional protein, which processes ubiquitin-conjugating activity, as a major regulator of abscission
	coordinates multiple steps required for abscission and ubiquitylation may be a crucial trigger
	antagonizes both the precursor and mature forms of Smac and caspase-9
	having has an essential function in preventing DIABLO-induced apoptosis
	is a target for glucocorticoid hormones (GHs) in the neural progenitor cells (NPCs), and controls cell division of NPCs and possibly of other stem cells
	BIRC6 and USP8 are two hitherto uncharacterized critical DNA damage response (DDR) regulators

CELLULAR PROCESS	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds to, ubiquitinates and facilitates proteasomal degradation of SMAC and caspase-9, which both contain IAP-binding motifs
	may have a potential oncogenic role in neuroblastoma by inactivating cytoplasmic DIABLO
	is potentially a novel regulator of mitotic CCCNA2 degradation independent of spindle assembly checkpoint (SAC)
	expression of BIRC6 is upregulated by MTRNR2L1, and BIRC6 could be an effector of MTRNR2L1 in a context-dependent manner
	acts as a scaffold, bridging the ubiquitin-specific peptidase 8 (USP8) and MCPH1 in a complex to coordinate USP8-catalyzed deubiquitination of MCPH1
	regulates DNA double-strand break response by promoting USP8 deubiquitination of MCPH1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in castration-resistant prostate cancer (CRPC) tumoral     --over   associated with unfavorable clinical features and negatively impacts relapse-free survival in childhood acute myeloid leukemia (AML)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate BIRC6-based dual IAP-targeting ASOs represent potential novel therapeutic agents against advanced prostate cancer cancer brain glioma/neuroblstoma BIRC6 inhibition may therefore provide a means for therapeutic intervention in neuroblastoma

ANIMAL & CELL MODELS

Birc6-mutant mice exhibit repair defects and genomic instability