Seroatlas · Human Serome Atlas

DIABLO

Diablo IAP-binding mitochondrial protein

Also known as: DBLOH_HUMAN, DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NR28
Gene: DIABLO
Ensembl: ENSG00000184047
Chromosome: 12
Canonical length: 239 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Mitochondria,Cytosol,Flagellar centriole,Mid piece,Principal piece,End piece
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

239 residues, UniProt reviewed canonical sequence.

>Q9NR28|DIABLO
     1  MAALKSWLSR SVTSFFRYRQ CLCVPVVANF KKRCFSELIR PWHKTVTIGF GVTLCAVPIA
    61  QKSEPHSLSS EALMRRAVSL VTDSTSTFLS QTTYALIEAI TEYTKAVYTL TSLYRQYTSL
   121  LGKMNSEEED EVWQVIIGAR AEMTSKHQEY LKLETTWMTA VGLSEMAAEA AYQTGADQAS
   181  ITARNHIQLV KLQVEEVHQL SRKAETKLAE AQIEELRQKT QEEGEERAES EQEAYLRED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIABLO can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

testis: 40 nTPM
choroid plexus: 40 nTPM
liver: 37 nTPM
epididymis: 34 nTPM
tongue: 32 nTPM
bone marrow: 31 nTPM

Single-cell type

other brain neurons: 23 nCPM
brain excitatory neurons: 21 nCPM
oligodendrocytes: 19 nCPM
brain inhibitory neurons: 18 nCPM
choroid plexus epithelial cells: 16 nCPM
oligodendrocyte progenitor cells: 15 nCPM

Immune cell

myeloid DC: 48 nTPM
memory B-cell: 47 nTPM
T-reg: 47 nTPM
NK-cell: 46 nTPM
basophil: 44 nTPM
total PBMC: 42 nTPM

Brain region

cerebellum: 20 nTPM
spinal cord: 20 nTPM
white matter: 20 nTPM
medulla oblongata: 17 nTPM
hypothalamus: 17 nTPM
pons: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIABLO.

Disease | AllUniProt

Conditions DIABLO is implicated in, by any mechanism.

Deafness, autosomal dominant, 64 (DFNA64) MIM:614152

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 162 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant nonsyndromic hearing loss 64

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.31
gnomAD pLI: 0
gnomAD missense Z: -1.12
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Smac/DIABLO-like superfamily
Smac/DIABLO protein
Second Mitochondria-derived Activator of Caspases

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DIABLO in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DIABLO as an antibody target. Whether an autoantibody or antibody against DIABLO could matter depends on whether native DIABLO is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DIABLO is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DIABLO as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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