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    DIDO1 death inducer-obliterator 1 [ Homo sapiens (human) ]

    Gene ID: 11083, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DIDO1provided by HGNC
    Official Full Name
    death inducer-obliterator 1provided by HGNC
    Primary source
    HGNC:HGNC:2680
    See related
    Ensembl:ENSG00000101191 MIM:604140; AllianceGenome:HGNC:2680
    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
    BYE1; DIO1; DATF1; DIDO2; DIDO3; DIO-1; DATF-1; C20orf158; dJ885L7.8
    Summary
    Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 4.7), spleen (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIDO1 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62877743..62937904, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64677856..64738018, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61509095..61569256, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13411 Neighboring gene transcription factor like 5 Neighboring gene diphthamide biosynthesis 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13127 Neighboring gene uncharacterized LOC105372717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61492967-61493621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61506686-61507340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61507341-61507994 Neighboring gene Sharpr-MPRA regulatory region 11652 Neighboring gene MPRA-validated peak4302 silencer Neighboring gene ARF GTPase 4 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61517086-61517616 Neighboring gene small nucleolar RNA, H/ACA box 117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61531289-61532143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61553829-61554340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61556733-61557346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61557347-61557960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61558843-61559691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61569565-61570233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61583471-61584300 Neighboring gene GID complex subunit 8 homolog Neighboring gene solute carrier family 17 member 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dido3 is an adaptor that controls SFPQ utilization in RNA splicing
      Title: Dido3-dependent SFPQ recruitment maintains efficiency in mammalian alternative splicing.
    2. CircDIDO1 inhibits gastric cancer progression by encoding a novel DIDO1-529aa protein and regulating PRDX2 protein stability.
      Title: CircDIDO1 inhibits gastric cancer progression by encoding a novel DIDO1-529aa protein and regulating PRDX2 protein stability.
    3. Role of DIDO1 in Progression of Esophageal Squamous Cell Carcinoma.
      Title: Role of DIDO1 in Progression of Esophageal Squamous Cell Carcinoma.
    4. Results identified a novel pH-dependent mechanism by which epigenetic reader, the PHD fingers of DIDO, recognize the histone mark H3K4me3. The pH-sensing ability might be necessary for normal biological processes and those characterized by altered cellular pH.
      Title: A Unique pH-Dependent Recognition of Methylated Histone H3K4 by PPS and DIDO.
    5. evaluated the Death Inducer-Obliterator (DIDO) (variants DIDO 1, 2 and 3) levels in CML, PV, ET and PMF patients. Our data reported the DIDO 1, 2 and 3 differential expressions in Myeloproliferative Neoplasms.
      Title: The expression of Death Inducer-Obliterator (DIDO) variants in Myeloproliferative Neoplasms.
    6. Dido1 induces the expression of Integrin alphaV, thereby promoting the attachment, migration, invasion and apoptosis resistance of melanoma cells.
      Title: Death inducer-obliterator 1 (Dido1) is a BMP target gene and promotes BMP-induced melanoma progression.
    7. Data show that CSE1L, DIDO1 and RBM39 mRNA expression levels correlated with chromosome 20q DNA copy number status.
      Title: CSE1L, DIDO1 and RBM39 in colorectal adenoma to carcinoma progression.
    8. Gambogic acid induces the apoptosis of Raji cells through DIO-1 upregulation, nuclear translocation, Bcl-xL downregulation and caspase 3 activation.
      Title: [Mechanism of gambogic acid-induced apoptosis in Raji cells].
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Gambogic acid induces DIDO1-mediated apoptosis in Jurkat T cells.
      Title: Gambogic acid induces death inducer-obliterator 1-mediated apoptosis in Jurkat T cells.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11265, KIAA0333, MGC16140, DKFZp434P1115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    death-inducer obliterator 1
    Names
    death-associated transcription factor 1

    NCBI Reference Sequences (RefSeq)

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    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_029496.1 RefSeqGene

      Range
      16448..65210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193369.2 → NP_001180298.1  death-inducer obliterator 1 isoform c

      See identical proteins and their annotated locations for NP_001180298.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains a different segment for its 5' UTR, compared to variant 4. Variants 4 and 5 encode the same protein (isoform c).
      Source sequence(s)
      AB002331, AY481572, CK300739, DA506324
      Consensus CDS
      CCDS33506.1
      UniProtKB/Swiss-Prot
      A8MY65, B9EH82, E1P5I1, O15043, Q3ZTL7, Q3ZTL8, Q4VXS1, Q4VXS2, Q4VXV8, Q4VXV9, Q96D72, Q9BQW0, Q9BTC0, Q9BW03, Q9H4G6, Q9H4G7, Q9NTU8, Q9NUM8, Q9UFB6
      Related
      ENSP00000378752.1, ENST00000395343.6
      Conserved Domains (4) summary
      smart00510
      Location:672 → 773
      TFS2M; Domain in the central regions of transcription elongation factor S-II (and elsewhere)
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3
      pfam07744
      Location:1057 → 1163
      SPOC; SPOC domain

    2. NM_001193370.2 → NP_001180299.1  death-inducer obliterator 1 isoform b

      See identical proteins and their annotated locations for NP_001180299.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains a different 5' UTR segment and a different terminal exon, compared to variant 4. It encodes a protein (isoform b) that has a distinct and shorter C-terminus when it is compared to isoform c. Variants 3 and 6 encode the same protein (isoform c).
      Source sequence(s)
      AB002331, AL035669, AW206895, AY481571, DA506324
      Consensus CDS
      CCDS13508.2
      UniProtKB/Swiss-Prot
      Q9BTC0
      Related
      ENSP00000378749.1, ENST00000395340.5
      Conserved Domains (4) summary
      smart00510
      Location:672 → 773
      TFS2M; Domain in the central regions of transcription elongation factor S-II (and elsewhere)
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3
      pfam07744
      Location:1057 → 1163
      SPOC; SPOC domain

    3. NM_022105.5 → NP_071388.2  death-inducer obliterator 1 isoform a

      See identical proteins and their annotated locations for NP_071388.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has a different segment and lacks most of the 3' coding region, compared to variant 4. The resulting protein (isoform a) has a shorter and distinct C-terminus when it is compared to isoform c. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC004237, DB460917
      Consensus CDS
      CCDS13509.1
      UniProtKB/Swiss-Prot
      Q9BTC0
      Related
      ENSP00000359397.4, ENST00000370371.8
      Conserved Domains (2) summary
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3

    4. NM_033081.3 → NP_149072.2  death-inducer obliterator 1 isoform c

      See identical proteins and their annotated locations for NP_149072.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest protein (isoform c). Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AB002331, AY481572, CK300739, CN348578, CN370112, DA294135
      Consensus CDS
      CCDS33506.1
      UniProtKB/Swiss-Prot
      A8MY65, B9EH82, E1P5I1, O15043, Q3ZTL7, Q3ZTL8, Q4VXS1, Q4VXS2, Q4VXV8, Q4VXV9, Q96D72, Q9BQW0, Q9BTC0, Q9BW03, Q9H4G6, Q9H4G7, Q9NTU8, Q9NUM8, Q9UFB6
      Related
      ENSP00000266070.4, ENST00000266070.8
      Conserved Domains (4) summary
      smart00510
      Location:672 → 773
      TFS2M; Domain in the central regions of transcription elongation factor S-II (and elsewhere)
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3
      pfam07744
      Location:1057 → 1163
      SPOC; SPOC domain

    5. NM_080796.4 → NP_542986.1  death-inducer obliterator 1 isoform a

      See identical proteins and their annotated locations for NP_542986.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a different 5' UTR segment and lacks most of the 3' coding region, compared to variant 4. The resulting protein (isoform a) has a shorter and distinct C-terminus when it is compared to isoform c. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC014489, DA506324
      Consensus CDS
      CCDS13509.1
      UniProtKB/Swiss-Prot
      Q9BTC0
      Related
      ENSP00000346692.4, ENST00000354665.8
      Conserved Domains (2) summary
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3

    6. NM_080797.4 → NP_542987.2  death-inducer obliterator 1 isoform b

      See identical proteins and their annotated locations for NP_542987.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different terminal exon, compared to variant 4. It encodes a protein (isoform b) that has a distinct and shorter C-terminus when it is compared to isoform c. Variants 3 and 6 encode the same protein (isoform c).
      Source sequence(s)
      AB002331, AL035669, AW206895, DA294135
      Consensus CDS
      CCDS13508.2
      UniProtKB/Swiss-Prot
      Q9BTC0
      Conserved Domains (4) summary
      smart00510
      Location:672 → 773
      TFS2M; Domain in the central regions of transcription elongation factor S-II (and elsewhere)
      COG5034
      Location:160 → 302
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd15639
      Location:266 → 319
      PHD_DIDO1_like; PHD finger found in death-inducer obliterator variants Dido1, Dido2, and Dido3
      pfam07744
      Location:1057 → 1163
      SPOC; SPOC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      62877743..62937904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      64677856..64738018 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152302.1: Suppressed sequence

      Description
      NM_152302.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTC0.5 GenPept UniProtKB/Swiss-Prot:Q9BTC0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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