ENSG00000184047


Homo sapiens

Features
Gene ID: ENSG00000184047
  
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: 122207663
Gene end: 122226568
  
Corresponding Affymetrix probe sets: 219350_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440971
Ensembl peptide - ENSP00000442360
Ensembl peptide - ENSP00000494535
Ensembl peptide - ENSP00000440653
Ensembl peptide - ENSP00000441139
Ensembl peptide - ENSP00000390818
Ensembl peptide - ENSP00000390103
Ensembl peptide - ENSP00000339963
Ensembl peptide - ENSP00000320343
Ensembl peptide - ENSP00000267169
Ensembl peptide - ENSP00000411638
NCBI entrez gene - 56616     See in Manteia.
OMIM - 605219
RefSeq - NM_001278302
RefSeq - NM_001278304
RefSeq - NM_001278342
RefSeq - NM_138930
RefSeq - NM_001278303
RefSeq Peptide - NP_001265271
RefSeq Peptide - NP_001265233
RefSeq Peptide - NP_001265232
RefSeq Peptide - NP_001265231
RefSeq Peptide - NP_620308
swissprot - Q9NR28
swissprot - A0A024RBT2
swissprot - A0A0S2Z5P6
swissprot - A0A0S2Z5U7
swissprot - F5GX50
swissprot - F5GXT8
swissprot - F5GYH3
swissprot - F8W6K8
swissprot - H7BZK7
swissprot - H7BZQ7
Ensembl - ENSG00000184047
  
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 proteinENSG00000284934100


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 IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 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 IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0035631 CD40 receptor complex ISS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0003676 Progressive disorder 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164305 CASP3 / P42574 / caspase 3  / complex / reaction
 ENSG00000101966 XIAP / P98170 / X-linked inhibitor of apoptosis  / reaction / complex
 ENSG00000165806 CASP7 / P55210 / caspase 7  / reaction / complex
 ENSG00000132906 CASP9 / P55211 / caspase 9  / complex / reaction






 

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