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    NUDCD3 NudC domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 23386, updated on 9-Dec-2024

    Summary

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    Official Symbol
    NUDCD3provided by HGNC
    Official Full Name
    NudC domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:22208
    See related
    Ensembl:ENSG00000015676 MIM:610296; AllianceGenome:HGNC:22208
    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
    NudCL
    Summary
    The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 28.0), ovary (RPKM 14.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUDCD3 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44379119..44490658, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44538885..44650393, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44418718..44530257, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44253740-44254655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44257065-44257612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44257613-44258158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44260592-44261156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44261157-44261720 Neighboring gene YKT6 v-SNARE homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44275325-44276208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25935 Neighboring gene calcium/calmodulin dependent protein kinase II beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44289329-44289847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44301759-44302258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44302657-44303488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44303489-44304320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44307207-44307708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44307709-44308208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44311666-44312166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44322903-44323685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44328206-44328848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44329545-44330046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44333819-44334319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44348485-44349088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44349089-44349690 Neighboring gene uncharacterized LOC124901621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44389311-44389811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25940 Neighboring gene Sharpr-MPRA regulatory region 3634 Neighboring gene ribosomal protein L32 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18144 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:44532074-44532200 Neighboring gene RNA, U6 small nuclear 1097, pseudogene Neighboring gene ribosomal protein L36a pseudogene 27

    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
    • 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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    Related articles in PubMed

    1. Inhibition of cytokinesis by overexpression of NudCL that is localized to the centrosome and midbody. Cai Y, et al. Cell Res, 2009 Nov. PMID 19806165
    2. A mammalian NudC-like protein essential for dynein stability and cell viability. Zhou T, et al. Proc Natl Acad Sci U S A, 2006 Jun 13. PMID 16754861, Free PMC Article
    3. Subunit composition of the human cytoplasmic dynein-2 complex. Asante D, et al. J Cell Sci, 2014 Nov 1. PMID 25205765, Free PMC Article
    4. USP49 negatively regulates tumorigenesis and chemoresistance through FKBP51-AKT signaling. Luo K, et al. EMBO J, 2017 May 15. PMID 28363942, Free PMC Article
    5. Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation. Chen Z, et al. Cell Death Differ, 2022 Oct. PMID 35379950, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. overexpression of NudCL inhibits cytokinesis
      Title: Inhibition of cytokinesis by overexpression of NudCL that is localized to the centrosome and midbody.
    3. Data characterize a previously undescribed mammalian NudC-like protein (NudCL), which appears to influence the stabilization of dynein intermediate chain
      Title: A mammalian NudC-like protein essential for dynein stability and cell viability.
    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

    • KIAA1068

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to pericentriolar material IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nudC domain-containing protein 3
    Names
    NudC-like protein

    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_015332.4 → NP_056147.2  nudC domain-containing protein 3

      See identical proteins and their annotated locations for NP_056147.2

      Status: REVIEWED

      Source sequence(s)
      AB028991, AC004453, AW138459, CN386226
      Consensus CDS
      CCDS5490.2
      UniProtKB/Swiss-Prot
      Q8IVD9, Q9BTI3, Q9H7W9, Q9UPT4
      UniProtKB/TrEMBL
      B0FTY2
      Related
      ENSP00000347626.6, ENST00000355451.8
      Conserved Domains (2) summary
      cd06495
      Location:184 → 285
      p23_NUDCD3_like; p23-like NUD (nuclear distribution) C-like domain found in human NUDC domain-containing protein 3 (NUDCD3) and similar proteins. Little is known about the function of the proteins in this subgroup.
      pfam14050
      Location:9 → 67
      Nudc_N; N-terminal conserved domain of Nudc

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44379119..44490658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515247.3 → XP_011513549.1  nudC domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B0FTY2
      Conserved Domains (2) summary
      cd06495
      Location:184 → 285
      p23_NUDCD3_like; p23-like NUD (nuclear distribution) C-like domain found in human NUDC domain-containing protein 3 (NUDCD3) and similar proteins. Little is known about the function of the proteins in this subgroup.
      pfam14050
      Location:9 → 67
      Nudc_N; N-terminal conserved domain of Nudc

    2. XM_017011908.2 → XP_016867397.1  nudC domain-containing protein 3 isoform X2

    RNA

    1. XR_007059994.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44538885..44650393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357712.1 → XP_054213687.1  nudC domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      B0FTY2

    2. XM_054357713.1 → XP_054213688.1  nudC domain-containing protein 3 isoform X2

    RNA

    1. XR_008487548.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVD9.3 GenPept UniProtKB/Swiss-Prot:Q8IVD9

    Gene LinkOut

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

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