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

Gene ID: 414301, updated on 30-Mar-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 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; proteasomal protein catabolic process; and regulation of DNA stability. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
11q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (104036640..104039196)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (104040522..104043078)
105.20220307 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)

Genotypes

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_2023_10

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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