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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

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001318739.2NP_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:51161
      Cullin_binding; Cullin binding
    2. NM_001318740.2NP_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:7117
      Cullin_binding; Cullin binding
    3. NM_001318741.2NP_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:7117
      Cullin_binding; Cullin binding
    4. NM_032299.4NP_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:120230
      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)