ENSG00000284934


Homo sapiens

Features
Gene ID: ENSG00000284934
  
Biological name :DIABLO
  
Synonyms : DIABLO / diablo IAP-binding mitochondrial protein / Q9NR28
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q24.31
Gene start: 122207662
Gene end: 122227534
  
Corresponding Affymetrix probe sets: 219350_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398495
Ensembl peptide - ENSP00000495792
Ensembl peptide - ENSP00000493911
NCBI entrez gene - 56616     See in Manteia.
OMIM - 605219
RefSeq - NM_019887
RefSeq Peptide - NP_063940
swissprot - A0A0S2Z5U7
swissprot - Q9NR28
Ensembl - ENSG00000284934
  
Related genetic diseases (OMIM): 614152 - Deafness, autosomal dominant 64, 614152
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 diabloaENSDARG00000104172Danio rerio
 diablobENSDARG00000014956Danio rerio
 ENSGALG00000004412Gallus gallus
 DiabloENSMUSG00000029433Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DIABLO / Q9NR28 / diablo IAP-binding mitochondrial proteinENSG00000184047100


Protein motifs (from Interpro)
Interpro ID Name
 IPR009062  Smac/DIABLO-like superfamily
 IPR015142  Smac/DIABLO protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0097193 intrinsic apoptotic signaling pathway TAS
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005758 mitochondrial intermembrane space TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane ISS
 cellular_componentGO:0035631 CD40 receptor complex ISS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Release of apoptotic factors from the mitochondria
SMAC binds to IAPs
SMAC-mediated dissociation of IAP:caspase complexes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0003676 Progressive disorder 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr