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Protein

Diablo homolog, mitochondrial

Gene

DIABLO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity to down-regulate the XIAP/BIRC4 abundance.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processApoptosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-111457 Release of apoptotic factors from the mitochondria
R-HSA-111463 SMAC binds to IAPs
R-HSA-111464 SMAC-mediated dissociation of IAP:caspase complexes

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9NR28

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9NR28 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Diablo homolog, mitochondrial
Alternative name(s):
Direct IAP-binding protein with low pI
Second mitochondria-derived activator of caspase
Short name:
Smac
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DIABLO
Synonyms:SMAC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000184047.15

Human Gene Nomenclature Database

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HGNCi
HGNC:21528 DIABLO

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605219 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NR28

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 64 (DFNA64)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614152
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066487126S → L in DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction. 1 PublicationCorresponds to variant dbSNP:rs387906893EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

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DisGeNETi
56616

MalaCards human disease database

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MalaCardsi
DIABLO
MIMi614152 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000184047

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134945044

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
DIABLO

Domain mapping of disease mutations (DMDM)

More...
DMDMi
18203316

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 55MitochondrionAdd BLAST55
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002107256 – 239Diablo homolog, mitochondrialAdd BLAST184

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by BIRC7/livin.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NR28

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NR28

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NR28

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NR28

PeptideAtlas

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PeptideAtlasi
Q9NR28

PRoteomics IDEntifications database

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PRIDEi
Q9NR28

ProteomicsDB human proteome resource

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ProteomicsDBi
82262
82263 [Q9NR28-2]
82264 [Q9NR28-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9NR28-1 [Q9NR28-1]
Q9NR28-2 [Q9NR28-2]
Q9NR28-3 [Q9NR28-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NR28

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9NR28

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
Q9NR28

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed with highest expression in testis. Expression is also high in heart, liver, kidney, spleen, prostate and ovary. Low in brain, lung, thymus and peripheral blood leukocytes. Isoform 3 is ubiquitously expressed.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000184047 Expressed in 98 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

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CleanExi
HS_DIABLO

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NR28 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NR28 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB003857
CAB016688
HPA001825

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Interacts with BEX3 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2, XIAP/BIRC4, BIRC6/bruce and BIRC7/livin. Interacts with the monomeric and dimeric form of BIRC5/survivin.By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121157, 50 interactors

Database of interacting proteins

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DIPi
DIP-27627N

Protein interaction database and analysis system

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IntActi
Q9NR28, 48 interactors

Molecular INTeraction database

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MINTi
Q9NR28

STRING: functional protein association networks

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STRINGi
9606.ENSP00000398495

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1239
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FEWX-ray2.20A56-239[»]
1G3FNMR-B56-64[»]
1G73X-ray2.00A/B56-217[»]
1OXQX-ray2.30F56-64[»]
1TW6X-ray1.71C/D56-64[»]
1XB0X-ray2.20G/H/I/J/K/L56-62[»]
1XB1X-ray2.70G/H/I/J/K/L56-62[»]
3D9UX-ray2.30B56-61[»]
3UIHX-ray2.40P/Q56-70[»]
3UIJX-ray2.70P/Q56-70[»]
4TX5X-ray1.80A/B56-239[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NR28

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NR28

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9NR28

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi56 – 60IAP-binding5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The mature N-terminus mediates interaction with XIAP/BIRC4.

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHTM Eukaryota
ENOG4111KJ0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000007237

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000217916

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051315

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NR28

KEGG Orthology (KO)

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KOi
K10522

Identification of Orthologs from Complete Genome Data

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OMAi
DAVWQVI

Database of Orthologous Groups

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OrthoDBi
1311341at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NR28

TreeFam database of animal gene trees

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TreeFami
TF102048

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009062 Smac/DIABLO-like_sf
IPR015142 Smac_DIABLO

The PANTHER Classification System

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PANTHERi
PTHR32247 PTHR32247, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF09057 Smac_DIABLO, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46984 SSF46984, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR28-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAALKSWLSR SVTSFFRYRQ CLCVPVVANF KKRCFSELIR PWHKTVTIGF
60 70 80 90 100
GVTLCAVPIA QKSEPHSLSS EALMRRAVSL VTDSTSTFLS QTTYALIEAI
110 120 130 140 150
TEYTKAVYTL TSLYRQYTSL LGKMNSEEED EVWQVIIGAR AEMTSKHQEY
160 170 180 190 200
LKLETTWMTA VGLSEMAAEA AYQTGADQAS ITARNHIQLV KLQVEEVHQL
210 220 230
SRKAETKLAE AQIEELRQKT QEEGEERAES EQEAYLRED
Length:239
Mass (Da):27,131
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i70C2AE0DC654D031
GO
Isoform 2 (identifier: Q9NR28-2) [UniParc]FASTAAdd to basket
Also known as: Diablo-S

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIA → MKSDFYF

Show »
Length:186
Mass (Da):21,233
Checksum:iFF567F7827AB6108
GO
Isoform 3 (identifier: Q9NR28-3) [UniParc]FASTAAdd to basket
Also known as: SMAC3

The sequence of this isoform differs from the canonical sequence as follows:
     62-105: Missing.

Show »
Length:195
Mass (Da):22,284
Checksum:iB344087CF2A87C05
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024RBT2A0A024RBT2_HUMAN
Diablo homolog, mitochondrial
DIABLO hCG_1782202
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXT8F5GXT8_HUMAN
Diablo homolog, mitochondrial
DIABLO
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZQ7H7BZQ7_HUMAN
Diablo homolog, mitochondrial
DIABLO
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZK7H7BZK7_HUMAN
Diablo homolog, mitochondrial
DIABLO
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2U3TZH2A0A2U3TZH2_HUMAN
Diablo homolog, mitochondrial
DIABLO
209Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5H2A0A2R8Y5H2_HUMAN
Diablo homolog, mitochondrial
DIABLO
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GX50F5GX50_HUMAN
Diablo homolog, mitochondrial
DIABLO
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4M2A0A2R8Y4M2_HUMAN
Diablo homolog, mitochondrial
DIABLO
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYH3F5GYH3_HUMAN
Diablo homolog, mitochondrial
DIABLO
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti32K → E in BAB71568 (PubMed:14702039).Curated1
Sequence conflicti44K → R in BAB14994 (PubMed:14702039).Curated1
Sequence conflicti165E → K in BAB71568 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066487126S → L in DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction. 1 PublicationCorresponds to variant dbSNP:rs387906893EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0043971 – 60MAALK…AVPIA → MKSDFYF in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_04278562 – 105Missing in isoform 3. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF262240 mRNA Translation: AAF87716.1
AY313210 mRNA Translation: AAQ86939.1
AK024768 mRNA Translation: BAB14994.1
AK057778 mRNA Translation: BAB71568.1
AK315629 mRNA Translation: BAG37997.1
AF298770 mRNA Translation: AAG22077.1
AC048338 Genomic DNA No translation available.
BC004417 mRNA Translation: AAH04417.1
BC011909 mRNA Translation: AAH11909.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9228.1 [Q9NR28-1]
CCDS9229.1 [Q9NR28-3]

NCBI Reference Sequences

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RefSeqi
NP_001265231.1, NM_001278302.1
NP_001265232.1, NM_001278303.1
NP_001265233.1, NM_001278304.1 [Q9NR28-2]
NP_001265271.1, NM_001278342.1 [Q9NR28-3]
NP_063940.1, NM_019887.5 [Q9NR28-1]
NP_620308.1, NM_138930.3 [Q9NR28-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.169611

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000353548; ENSP00000320343; ENSG00000184047 [Q9NR28-3]
ENST00000443649; ENSP00000398495; ENSG00000284934 [Q9NR28-1]
ENST00000464942; ENSP00000442360; ENSG00000184047 [Q9NR28-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56616

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56616

UCSC genome browser

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UCSCi
uc010tab.4 human [Q9NR28-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF262240 mRNA Translation: AAF87716.1
AY313210 mRNA Translation: AAQ86939.1
AK024768 mRNA Translation: BAB14994.1
AK057778 mRNA Translation: BAB71568.1
AK315629 mRNA Translation: BAG37997.1
AF298770 mRNA Translation: AAG22077.1
AC048338 Genomic DNA No translation available.
BC004417 mRNA Translation: AAH04417.1
BC011909 mRNA Translation: AAH11909.1
CCDSiCCDS9228.1 [Q9NR28-1]
CCDS9229.1 [Q9NR28-3]
RefSeqiNP_001265231.1, NM_001278302.1
NP_001265232.1, NM_001278303.1
NP_001265233.1, NM_001278304.1 [Q9NR28-2]
NP_001265271.1, NM_001278342.1 [Q9NR28-3]
NP_063940.1, NM_019887.5 [Q9NR28-1]
NP_620308.1, NM_138930.3 [Q9NR28-2]
UniGeneiHs.169611

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FEWX-ray2.20A56-239[»]
1G3FNMR-B56-64[»]
1G73X-ray2.00A/B56-217[»]
1OXQX-ray2.30F56-64[»]
1TW6X-ray1.71C/D56-64[»]
1XB0X-ray2.20G/H/I/J/K/L56-62[»]
1XB1X-ray2.70G/H/I/J/K/L56-62[»]
3D9UX-ray2.30B56-61[»]
3UIHX-ray2.40P/Q56-70[»]
3UIJX-ray2.70P/Q56-70[»]
4TX5X-ray1.80A/B56-239[»]
ProteinModelPortaliQ9NR28
SMRiQ9NR28
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121157, 50 interactors
DIPiDIP-27627N
IntActiQ9NR28, 48 interactors
MINTiQ9NR28
STRINGi9606.ENSP00000398495

Protein family/group databases

MoonDBiQ9NR28 Predicted

PTM databases

iPTMnetiQ9NR28
PhosphoSitePlusiQ9NR28

Polymorphism and mutation databases

BioMutaiDIABLO
DMDMi18203316

Proteomic databases

EPDiQ9NR28
jPOSTiQ9NR28
MaxQBiQ9NR28
PaxDbiQ9NR28
PeptideAtlasiQ9NR28
PRIDEiQ9NR28
ProteomicsDBi82262
82263 [Q9NR28-2]
82264 [Q9NR28-3]
TopDownProteomicsiQ9NR28-1 [Q9NR28-1]
Q9NR28-2 [Q9NR28-2]
Q9NR28-3 [Q9NR28-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
56616
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353548; ENSP00000320343; ENSG00000184047 [Q9NR28-3]
ENST00000443649; ENSP00000398495; ENSG00000284934 [Q9NR28-1]
ENST00000464942; ENSP00000442360; ENSG00000184047 [Q9NR28-1]
GeneIDi56616
KEGGihsa:56616
UCSCiuc010tab.4 human [Q9NR28-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
56616
DisGeNETi56616
EuPathDBiHostDB:ENSG00000184047.15

GeneCards: human genes, protein and diseases

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GeneCardsi
DIABLO
HGNCiHGNC:21528 DIABLO
HPAiCAB003857
CAB016688
HPA001825
MalaCardsiDIABLO
MIMi605219 gene
614152 phenotype
neXtProtiNX_Q9NR28
OpenTargetsiENSG00000184047
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA134945044

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHTM Eukaryota
ENOG4111KJ0 LUCA
GeneTreeiENSGT00390000007237
HOGENOMiHOG000217916
HOVERGENiHBG051315
InParanoidiQ9NR28
KOiK10522
OMAiDAVWQVI
OrthoDBi1311341at2759
PhylomeDBiQ9NR28
TreeFamiTF102048

Enzyme and pathway databases

ReactomeiR-HSA-111457 Release of apoptotic factors from the mitochondria
R-HSA-111463 SMAC binds to IAPs
R-HSA-111464 SMAC-mediated dissociation of IAP:caspase complexes
SIGNORiQ9NR28

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DIABLO human
EvolutionaryTraceiQ9NR28

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Diablo_homolog

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
56616
PMAP-CutDBiQ9NR28

Protein Ontology

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PROi
PR:Q9NR28

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184047 Expressed in 98 organ(s), highest expression level in right testis
CleanExiHS_DIABLO
ExpressionAtlasiQ9NR28 baseline and differential
GenevisibleiQ9NR28 HS

Family and domain databases

InterProiView protein in InterPro
IPR009062 Smac/DIABLO-like_sf
IPR015142 Smac_DIABLO
PANTHERiPTHR32247 PTHR32247, 1 hit
PfamiView protein in Pfam
PF09057 Smac_DIABLO, 1 hit
SUPFAMiSSF46984 SSF46984, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDBLOH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NR28
Secondary accession number(s): B2RDQ0
, Q6W3F3, Q96LV0, Q9BT11, Q9HAV6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: October 1, 2000
Last modified: January 16, 2019
This is version 182 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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