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

    Gene ID: 56616, updated on 5-May-2024

    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; AllianceGenome:HGNC:21528
    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
    NEW
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    Genomic context

    See DIABLO in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122207662..122227456, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122203450..122223242, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122692209..122712003, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122580754-122581254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122581255-122581755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122582507-122583160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122583161-122583814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7205 Neighboring gene Sharpr-MPRA regulatory region 11163 Neighboring gene MLX interacting protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611084-122611596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611597-122612107 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122614034-122615233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122622713-122623575 Neighboring gene MPRA-validated peak2016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122651061-122651663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7209 Neighboring gene leucine rich repeat containing 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5011 Neighboring gene interleukin 31 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122709001-122709906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7211 Neighboring gene uncharacterized LOC101593348 Neighboring gene uncharacterized LOC128125816 Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122711745-122712576 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene VPS33A core subunit of CORVET and HOPS complexes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122750160-122751042 Neighboring gene MPRA-validated peak2017 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:122773535-122773694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7214 Neighboring gene CAP-Gly domain containing linker protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122797254-122797754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122797755-122798255 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

    Clone Names

    • FLJ10537, FLJ25049, 0610041G12Rik

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 IAP-binding mitochondrial protein 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/TrEMBL
      K7X1S0
      Conserved Domains (1) summary
      pfam09057
      Location:6142
      Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
    2. NM_001278303.1NP_001265232.1  diablo IAP-binding mitochondrial protein 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/TrEMBL
      A0A024RBQ1, A0A024RBT2, K7X1S0
      Conserved Domains (1) summary
      pfam09057
      Location:1166
      Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
    3. NM_001278304.2NP_001265233.1  diablo IAP-binding mitochondrial protein 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/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 IAP-binding mitochondrial protein 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/TrEMBL
      A0A0S2Z5P6, Q53HB7
      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 IAP-binding mitochondrial protein isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC048338, AF262240
      Consensus CDS
      CCDS9228.1
      UniProtKB/Swiss-Prot
      B2RDQ0, Q6W3F3, Q96LV0, Q9BT11, Q9HAV6, Q9NR28
      UniProtKB/TrEMBL
      A0A0S2Z5U7, Q53HB7
      Related
      ENSP00000442360.2, ENST00000464942.7
      Conserved Domains (1) summary
      pfam09057
      Location:9239
      Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
    6. NM_019887.6NP_063940.1  diablo IAP-binding mitochondrial protein 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
      B2RDQ0, Q6W3F3, Q96LV0, Q9BT11, Q9HAV6, Q9NR28
      UniProtKB/TrEMBL
      A0A0S2Z5U7, Q53HB7
      Conserved Domains (1) summary
      pfam09057
      Location:9239
      Smac_DIABLO; Second Mitochondria-derived Activator of Caspases
    7. NM_138930.3NP_620308.1  diablo IAP-binding mitochondrial protein 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/TrEMBL
      Q502X2
      Conserved Domains (1) summary
      pfam09057
      Location:8186
      Smac_DIABLO; Second Mitochondria-derived Activator of Caspases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122203450..122223242 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.