DIABLO

GENERAL INFORMATION

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Gene name

DIABLO

Gene description

Diablo, IAP-binding mitochondrial protein

Protein class

Disease related genes
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

12
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA001825 , CAB003857 , CAB016688
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DIABLO (HGNC Symbol)

Synonyms

DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC

Description

Diablo, IAP-binding mitochondrial protein (HGNC Symbol)

Entrez gene summary

This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

Chromosome

12

Cytoband

q24.31

Chromosome location (bp)

122207662 - 122227534

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000184047 (version 78.38)

Entrez gene

56616

UniProt

Q9NR28 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NR28

Antibodypedia

DIABLO antibodies


PROTEIN BROWSER

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ENST00000267169
 
ENST00000353548
 
ENST00000413918
 
ENST00000439489
 
ENST00000443649
 
ENST00000446652
 
ENST00000464942
 
ENST00000474004
 
ENST00000485724
 
ENST00000540535
 
ENST00000541273
 
ENST00000541656
 
 » 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DIABLO-002 ENSP00000320343
ENST00000353548
Q9NR28
Show all »
Show » Show » 195 22.3 No 1
DIABLO-003 ENSP00000398495
ENST00000443649
Q9NR28
Show all »
Show » Show » 239 27.1 No 0
DIABLO-005 ENSP00000442360
ENST00000464942
Q9NR28
Show all »
Show » Show » 186 21.2 No 0
DIABLO-007 ENSP00000438710
ENST00000485724
F5H0Q4
Show all »
Show » Show » 77 8.8 No 0
DIABLO-008 ENSP00000390103
ENST00000446652
F5H0Q4
Show all »
Show » Show » 191 21.5 No 0
DIABLO-009 ENSP00000442669
ENST00000474004
F5H796
Show all »
Show » Show » 157 17.8 No 0
DIABLO-011 ENSP00000390818
ENST00000439489
Show » Show » 120 13.4 No 0
DIABLO-012 ENSP00000267169
ENST00000267169
Q9NR28
Show all »
Show » Show » 186 21.2 No 0
DIABLO-013 ENSP00000440971
ENST00000541273
F5GXT8
Show all »
Show » Show » 133 15.3 No 0
DIABLO-014 ENSP00000440653
ENST00000541656
F5GYH3
Show all »
Show » Show » 125 14.1 No 0
DIABLO-015 ENSP00000441139
ENST00000540535
F5GX50
Show all »
Show » Show » 129 14.6 No 0
DIABLO-201 ENSP00000411638
ENST00000413918
A0A024RBT2
Show all »
Show » Show » 166 18.9 No 0