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DIABLO diablo IAP-binding mitochondrial protein [ Homo sapiens (human) ]

Gene ID: 56616, updated on 5-Jul-2020

Summary

Official Symbol
DIABLOprovided by HGNC
Official Full Name
diablo IAP-binding mitochondrial proteinprovided by HGNC
Primary source
HGNC:HGNC:21528
See related
Ensembl:ENSG00000184047 MIM:605219
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMAC; DFNA64
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]
Expression
Ubiquitous expression in testis (RPKM 16.5), adrenal (RPKM 10.0) and 25 other tissues See more
Orthologs

Genomic context

See DIABLO in Genome Data Viewer
Location:
12q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122207662..122227456, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122692209..122712081, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MLX interacting protein Neighboring gene leucine rich repeat containing 43 Neighboring gene interleukin 31 Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC101593348 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene VPS33A core subunit of CORVET and HOPS complexes Neighboring gene CAP-Gly domain containing linker protein 1 Neighboring gene coiled-coil domain containing 150 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr-induced apoptosis through caspase activation and Smac release from mitochondria is dependent on G2 cell cycle arrest , but is lost in cells synchronized in G1/S PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: VPS33A

Homology

Clone Names

  • FLJ10537, FLJ25049, 0610041G12Rik

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
CD40 receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
diablo homolog, mitochondrial
Names
diablo-like protein
direct IAP-binding protein with low pI
second mitochondria-derived activator of caspase

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029459.1 RefSeqGene

    Range
    6470..24854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278302.1NP_001265231.1  diablo homolog, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and 5' coding region, uses an alternate start codon, and lacks an in-frame exon in the internal coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter, compared to isoform 1.
    Source sequence(s)
    AK057778, BC046209, BC095468, DA877400, JX679472, N66735
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    K7X1S0, Q502X2
    Conserved Domains (1) summary
    pfam09057
    Location:6142
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
  2. NM_001278303.1NP_001265232.1  diablo homolog, mitochondrial isoform 5

    See identical proteins and their annotated locations for NP_001265232.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (5, also known as Smac-gamma) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK057778, BC046209, BF313712, DA877400, N66735
    Consensus CDS
    CCDS73541.1
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    A0A024RBT2
    Conserved Domains (1) summary
    pfam09057
    Location:1166
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
  3. NM_001278304.2NP_001265233.1  diablo homolog, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001265233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in its 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2, also known as Smac-beta and Smac/DIABLO-S) has a shorter and distinct N-terminus, compared to isoform 1. Isoform 2 has a cortical, instead of a mitochondrial, subcellular distribution, and lacks the inhibitor of apoptosis protein-binding domain but maintains the ability to potentiate apoptosis (PMID: 11285287). Variants 2 and 7 encode the same isoform.
    Source sequence(s)
    AK001399, AK057778, DB254800, N66735
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    Q502X2
    Related
    ENST00000644509.1
    Conserved Domains (1) summary
    pfam09057
    Location:8186
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
  4. NM_001278342.1NP_001265271.1  diablo homolog, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001265271.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR, and lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (3, also known as Smac-delta and Smac3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK057778, AY313210, BC046209, DA877400, N66735
    Consensus CDS
    CCDS9229.1
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    A0A0S2Z5P6
    Related
    ENSP00000320343.6, ENST00000353548.11
    Conserved Domains (1) summary
    pfam09057
    Location:9195
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
  5. NM_001371333.1NP_001358262.1  diablo homolog, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC048338, AF262240
    Related
    ENSP00000442360.2, ENST00000464942.7
  6. NM_019887.6NP_063940.1  diablo homolog, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_063940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Smac-alpha).
    Source sequence(s)
    AK057778, BC046209, DA915183, N66735
    Consensus CDS
    CCDS9228.1
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    A0A0S2Z5U7
    Related
    ENSP00000499058.1, ENST00000650715.1
    Conserved Domains (1) summary
    pfam09057
    Location:9239
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
  7. NM_138930.3NP_620308.1  diablo homolog, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_620308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2, also known as Smac-beta and Smac/DIABLO-S) has a shorter and distinct N-terminus, compared to isoform 1. Isoform 2 has a cortical, instead of a mitochondrial, subcellular distribution, and lacks the inhibitor of apoptosis protein-binding domain but maintains the ability to potentiate apoptosis (PMID: 11285287). Variants 2 and 7 encode the same isoform.
    Source sequence(s)
    AK057778, BC046209, BC095468, DA877400, N66735
    UniProtKB/Swiss-Prot
    Q9NR28
    UniProtKB/TrEMBL
    Q502X2
    Conserved Domains (1) summary
    pfam09057
    Location:8186
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122207662..122227456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138929.3: Suppressed sequence

    Description
    NM_138929.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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