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    DDI1 DNA damage inducible 1 homolog 1 [ Homo sapiens (human) ]

    Gene ID: 414301, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DDI1provided by HGNC
    Official Full Name
    DNA damage inducible 1 homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:18961
    See related
    Ensembl:ENSG00000170967 MIM:620870; AllianceGenome:HGNC:18961
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable aspartic-type endopeptidase activity. Involved in several processes, including cellular response to hydroxyurea; regulation of DNA stability; and regulation of protein stability. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
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    Genomic context

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    See DDI1 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (104036640..104039196)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (104040522..104043078)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (103907368..103909924)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene microRNA 4693 Neighboring gene MPRA-validated peak1441 silencer Neighboring gene PDGFD downstream neighbor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5456 Neighboring gene platelet derived growth factor D Neighboring gene ReSE screen-validated silencer GRCh37_chr11:103854885-103855078 Neighboring gene RNA, 5S ribosomal pseudogene 348 Neighboring gene uncharacterized LOC102723879 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:104208910-104210109

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. NRIP3 upregulation confers resistance to chemoradiotherapy in ESCC via RTF2 removal by accelerating ubiquitination and degradation of RTF2. Suo D, et al. Oncogenesis, 2020 Aug 24. PMID 32839439, Free PMC Article
    2. Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. Ramirez J, et al. Hum Mol Genet, 2018 Jun 1. PMID 29788202
    3. Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity. Kottemann MC, et al. Mol Cell, 2018 Jan 4. PMID 29290612, Free PMC Article
    4. Diverse polyubiquitin interaction properties of ubiquitin-associated domains. Raasi S, et al. Nat Struct Mol Biol, 2005 Aug. PMID 16007098
    5. A role for Saccharomyces cerevisiae Centrin (Cdc31) in mitochondrial function and biogenesis. Chen L, et al. Mol Microbiol, 2018 Dec. PMID 30251372

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Using human neuroblastoma SH-SY5Y cells in culture, we also observed that human DDI1 is ubiquitinated by UBE3A, without being targeted for degradation
      Title: Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    • FLJ36017

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartic-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to hydroxyurea IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein DDI1 homolog 1
    Names
    DDI1, DNA-damage inducible 1, homolog 1
    DNA-damage inducible protein 1
    NP_001001711.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001001711.3 → NP_001001711.1  protein DDI1 homolog 1

      See identical proteins and their annotated locations for NP_001001711.1

      Status: VALIDATED

      Source sequence(s)
      AF429971, AK093336, AP003043, DB513526
      Consensus CDS
      CCDS31660.1
      UniProtKB/Swiss-Prot
      Q7Z4U6, Q8WTS3, Q8WTU0
      Related
      ENSP00000302805.3, ENST00000302259.5
      Conserved Domains (3) summary
      cd05479
      Location:229 → 351
      RP_DDI; RP_DDI; retropepsin-like domain of DNA damage inducible protein
      cd01796
      Location:3 → 76
      DDI1_N; DNA damage inducible protein 1 ubiquitin-like domain
      cl28408
      Location:1 → 215
      UBQ; Ubiquitin homologues

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      104036640..104039196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      104040522..104043078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTU0.1 GenPept UniProtKB/Swiss-Prot:Q8WTU0

    Gene LinkOut

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

    Chemical Information
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