Cell atlas - DIABLO - The Human Protein Atlas

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DIABLO

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TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	DIABLO
Gene description	Diablo, IAP-binding mitochondrial protein
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	12
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA001825 , CAB016688
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the mitochondria.

Main location

Mitochondria (validated)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	CAB016688	A-431	Mitochondria
	CAB016688	U-2 OS	Mitochondria
	CAB016688	U-2 OS	Cytosol
	CAB016688	U-251 MG	Nucleoplasm
	CAB016688	U-251 MG	Mitochondria
	HPA001825	A-431	Mitochondria
	HPA001825	U-2 OS	Mitochondria
	HPA001825	U-251 MG	Mitochondria

GENE INFORMATION
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 83.38)
Entrez gene	56616
UniProt	Q9NR28 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NR28
Antibodypedia	DIABLO antibodies

PROTEIN BROWSER

DIABLO-002	DIABLO-003	DIABLO-005	DIABLO-007	DIABLO-008	DIABLO-009	DIABLO-011	DIABLO-012	DIABLO-013	DIABLO-014	DIABLO-015	DIABLO-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DIABLO-002 ENSP00000320343 ENST00000353548	Q9NR28 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005758 [mitochondrial intermembrane space] GO:0005829 [cytosol] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] GO:0009898 [cytoplasmic side of plasma membrane] GO:0012501 [programmed cell death] GO:0035631 [CD40 receptor complex] GO:0043065 [positive regulation of apoptotic process] GO:0097193 [intrinsic apoptotic signaling pathway] Show all	195 aa 22.3 kDa	No	1
DIABLO-003 ENSP00000398495 ENST00000443649	Q9NR28 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005758 [mitochondrial intermembrane space] GO:0005829 [cytosol] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] GO:0008631 [intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0009898 [cytoplasmic side of plasma membrane] GO:0012501 [programmed cell death] GO:0035631 [CD40 receptor complex] GO:0043065 [positive regulation of apoptotic process] GO:0051402 [neuron apoptotic process] GO:0097193 [intrinsic apoptotic signaling pathway] Show all	239 aa 27.1 kDa	No	0
DIABLO-005 ENSP00000442360 ENST00000464942	Q9NR28 [Direct mapping] Diablo homolog, mitochondrial Q502X2 [Target identity:100%; Query identity:100%] Diablo homolog (Drosophila); HCG1782202, isoform CRA_d; cDNA FLJ10537 fis, clone NT2RP2001119, highly similar to Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005758 [mitochondrial intermembrane space] GO:0005829 [cytosol] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] GO:0009898 [cytoplasmic side of plasma membrane] GO:0012501 [programmed cell death] GO:0035631 [CD40 receptor complex] GO:0043065 [positive regulation of apoptotic process] GO:0097193 [intrinsic apoptotic signaling pathway] Show all	186 aa 21.2 kDa	No	0
DIABLO-007 ENSP00000438710 ENST00000485724	F5H0Q4 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	77 aa 8.8 kDa	No	0
DIABLO-008 ENSP00000390103 ENST00000446652	H7BZK7 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	191 aa 21.5 kDa	No	0
DIABLO-009 ENSP00000442669 ENST00000474004	F5H796 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	157 aa 17.8 kDa	No	0
DIABLO-011 ENSP00000390818 ENST00000439489	H7BZQ7 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	120 aa 13.4 kDa	No	0
DIABLO-012 ENSP00000267169 ENST00000267169	Q9NR28 [Direct mapping] Diablo homolog, mitochondrial Q502X2 [Target identity:100%; Query identity:100%] Diablo homolog (Drosophila); HCG1782202, isoform CRA_d; cDNA FLJ10537 fis, clone NT2RP2001119, highly similar to Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005758 [mitochondrial intermembrane space] GO:0005829 [cytosol] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] GO:0009898 [cytoplasmic side of plasma membrane] GO:0012501 [programmed cell death] GO:0035631 [CD40 receptor complex] GO:0043065 [positive regulation of apoptotic process] GO:0097193 [intrinsic apoptotic signaling pathway] Show all	186 aa 21.2 kDa	No	0
DIABLO-013 ENSP00000440971 ENST00000541273	F5GXT8 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	133 aa 15.3 kDa	No	0
DIABLO-014 ENSP00000440653 ENST00000541656	F5GYH3 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	125 aa 14.1 kDa	No	0
DIABLO-015 ENSP00000441139 ENST00000540535	F5GX50 [Direct mapping] Diablo homolog, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	129 aa 14.6 kDa	No	0
DIABLO-201 ENSP00000411638 ENST00000413918	A0A024RBT2 [Direct mapping] Diablo homolog, mitochondrial; HCG1782202, isoform CRA_c Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0006915 [apoptotic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] Show all	166 aa 18.9 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.