O62640

SS
Gene name
PIAP
Protein name
Putative inhibitor of apoptosis
Names
Species
Sus scrofa (Pig)
KEGG Pathway
EC number
Protein Class

Descriptions

E3 ligases mediate the covalent attachment of ubiquitin to target proteins thereby enabling ubiquitin dependent signaling. Baculoviral IAP repeat-containing protein 2 (BIRC2) protein is an E3 ligase that modulates diverse biological processes such as cell survival, proliferation, and migration. Full-length BIRC2 fails to associate with E2, but CARD-deleted mutant BIRC2 readily interacts with E2. The CARD inhibits activation of BIRC2’s E3 activity by preventing RING dimerization, E2 binding, and E2 activation. In addition, BIRC2 lacking only the BIR3 domain readily associates with the E2, representing that the CARD and BIR3 domains are both required for inhibition of E3 activity of BIRC2.

Autoinhibitory domains (AIDs)

194-302 (CARD domain) SS

Target domain

311-356 (RING domain)

Relief mechanism

Ligand binding

Assay

88-159 (BIR3 domain) SS

Target domain

311-356 (RING domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for O62640

Entry ID Method Resolution Chain Position Source
AF-O62640-F1 Predicted AlphaFoldDB

No variants for O62640

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for O62640

3 associated diseases with O62640

[MIM: 606346]: Deafness, autosomal dominant, 22 (DFNA22)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 607821]: Deafness, autosomal recessive, 37 (DFNB37)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 606346]: Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM)

An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O62640

Type Name Position InterPro Accession
domain Myosin head, motor domain 51 - 772 IPR001609
domain Myosin, N-terminal, SH3-like 2 - 53 IPR004009
domain Myosin VI, cargo binding domain 1177 - 1267 IPR032412
domain Class VI myosin, motor domain 71 - 759 IPR036114
domain Myosin VI, lever arm 770 - 917 IPR049016

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
cysteine-type endopeptidase inhibitor activity involved in apoptotic process Binds to and stops, prevents or reduces the activity of a cysteine-type endopeptidase involved in the apoptotic process.
metal ion binding Binding to a metal ion.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond

5 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of necroptotic process Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors.
positive regulation of protein ubiquitination Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q90660 ITA Inhibitor of apoptosis protein Gallus gallus (Chicken) SS
A1E2V0 BIRC3 Baculoviral IAP repeat-containing protein 3 Canis lupus familiaris (Dog) (Canis familiaris) SS
Q96P09 BIRC8 Baculoviral IAP repeat-containing protein 8 Homo sapiens (Human) PR
Q13490 BIRC2 Baculoviral IAP repeat-containing protein 2 Homo sapiens (Human) EV
Q13489 BIRC3 Baculoviral IAP repeat-containing protein 3 Homo sapiens (Human) SS
Q62210 Birc2 Baculoviral IAP repeat-containing protein 2 Mus musculus (Mouse) SS
O08863 Birc3 Baculoviral IAP repeat-containing protein 3 Mus musculus (Mouse) SS
10 20 30 40 50 60
MNTEKDRLLT FQMWPLTFLS PADLAKAGFY YIGPGDRVAC FACGGKLSNW EPKDDAMTEH
70 80 90 100 110 120
LRHFPNCPFL GNQLQDSSRY TVSNLSMQTY AARFKTFCNW PSSIPVHPEQ LASAGFYYMG
130 140 150 160 170 180
HSDDVKCFCC DGGLRCWESG DDPWVEHAKW FPRCEYLIRI KGQEFISRVQ ASYPHLLEQL
190 200 210 220 230 240
LSTSDNPEDE NAEPPNDLSL IRKNRMALFQ HLTCVLPILD SLLIARVISE QEHDVIKQKT
250 260 270 280 290 300
QTSLQARELI DIILVKGNYA ATIFKNSLQE IDPMLYKHLF VQQDIKYIPT ENVSDLSMEE
310 320 330 340 350
QLRRLQEERT CKVCMDKEVS IVFIPCGHLV VCKDCAPSLR KCPICRGTIK GTVRTFLS