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    DCUN1D5 defective in cullin neddylation 1 domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 84259, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DCUN1D5provided by HGNC
    Official Full Name
    defective in cullin neddylation 1 domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:28409
    See related
    Ensembl:ENSG00000137692 MIM:616522; AllianceGenome:HGNC:28409
    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
    Also known as
    DCNL5; SCCRO5
    Summary
    Enables cullin family protein binding activity. Involved in DNA damage response; positive regulation of protein neddylation; and regulation of cell growth. Located in nucleus and spindle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 3.6), fat (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCUN1D5 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (103050686..103092160, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (103054420..103095887, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102921415..102962889, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093 Neighboring gene NANOG hESC enhancer GRCh37_chr11:102852196-102852783 Neighboring gene matrix metallopeptidase 13 Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:102962009-102962626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:102962627-102963244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:103012329-103012830 Neighboring gene dynein cytoplasmic 2 heavy chain 1 Neighboring gene MT-ATP6 pseudogene 15 Neighboring gene MT-CO3 pseudogene 15

    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. YY1 mediated DCUN1D5 transcriptional activation promotes triple-negative breast cancer progression by targeting FN1/PI3K/AKT pathway.
      Title: YY1 mediated DCUN1D5 transcriptional activation promotes triple-negative breast cancer progression by targeting FN1/PI3K/AKT pathway.
    2. All reported DCN1 inhibitors are able to induce remarkable accumulation of cullin 3 and its substrate NRF2, indicating therapeutic potential of DCN1 inhibitors for human diseases that may benefit from upregulation of cullin 3 and NRF2
      Title: Targeting the DCN1-UBC12 protein-protein interaction: novel approaches and future directions.
    3. evidence that DCNL5 may be involved in innate immunity, as it is a direct substrate of the kinase IKKalpha during immune signalling.
      Title: The NEDD8 E3 ligase DCNL5 is phosphorylated by IKK alpha during Toll-like receptor activation.
    4. SCCRO5 has oncogenic potential that requires its function as a component of the neddylation E3. Neddylation activity and nuclear localization of SCCRO5 are important for its in vivo function.
      Title: Oncogenic function of SCCRO5/DCUN1D5 requires its Neddylation E3 activity and nuclear localization.
    5. Overexpression of DCUN1D5 is associated with laryngeal squamous cell carcinoma.
      Title: In vitro biological characterization of DCUN1D5 in DNA damage response.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    EBI GWAS Catalog
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog

    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

    • MGC2714, FLJ32431, FLJ37425

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cullin family protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-like protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein neddylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein neddylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein neddylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DCN1-like protein 5
    Names
    DCN1, defective in cullin neddylation 1, domain containing 5
    DCUN1 domain-containing protein 5
    defective in cullin neddylation protein 1-like protein 5
    squamous cell carcinoma-related oncogene 5

    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_001318739.2 → NP_001305668.1  DCN1-like protein 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK298227, AP001486
      UniProtKB/TrEMBL
      B4DP84
      Conserved Domains (1) summary
      pfam03556
      Location:51 → 161
      Cullin_binding; Cullin binding

    2. NM_001318740.2 → NP_001305669.1  DCN1-like protein 5 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AK298227, AP001486, CN261961, DB039638
      UniProtKB/TrEMBL
      B4DP84
      Related
      ENSP00000435035.1, ENST00000531543.1
      Conserved Domains (1) summary
      pfam03556
      Location:7 → 117
      Cullin_binding; Cullin binding

    3. NM_001318741.2 → NP_001305670.1  DCN1-like protein 5 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate coding exon compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AK298227, AP001486, BM723994, DB039638
      UniProtKB/TrEMBL
      B4DP84
      Conserved Domains (1) summary
      pfam03556
      Location:7 → 117
      Cullin_binding; Cullin binding

    4. NM_032299.4 → NP_115675.1  DCN1-like protein 5 isoform a

      See identical proteins and their annotated locations for NP_115675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AP001486, BC004169, DB039638
      Consensus CDS
      CCDS8325.1
      UniProtKB/Swiss-Prot
      Q3ZTT2, Q9BTE7
      Related
      ENSP00000260247.5, ENST00000260247.10
      Conserved Domains (1) summary
      pfam03556
      Location:120 → 230
      Cullin_binding; Cullin binding

    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
      103050686..103092160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      103054420..103095887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTE7.1 GenPept UniProtKB/Swiss-Prot:Q9BTE7

    Gene LinkOut

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

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