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    DPCD deleted in primary ciliary dyskinesia homolog (mouse) [ Homo sapiens (human) ]

    Gene ID: 25911, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DPCDprovided by HGNC
    Official Full Name
    deleted in primary ciliary dyskinesia homolog (mouse)provided by HGNC
    Primary source
    HGNC:HGNC:24542
    See related
    Ensembl:ENSG00000166171 MIM:616467; AllianceGenome:HGNC:24542
    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
    Summary
    This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in testis (RPKM 51.1), kidney (RPKM 13.2) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DPCD in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101588321..101609662)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (102472358..102493735)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103348078..103369419)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103201016-103201516 Neighboring gene VISTA enhancer hs326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103320958-103321458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3913 Neighboring gene NANOG hESC enhancer GRCh37_chr10:103356755-103357323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2722 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103367960-103368675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103371133-103371633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103372791-103373324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103373325-103373858 Neighboring gene microRNA 3158-1 Neighboring gene microRNA 3158-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103378239-103379151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103379197-103379698 Neighboring gene DNA polymerase lambda Neighboring gene RNA, U6 small nuclear 1165, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103402902-103403748 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103403749-103404596 Neighboring gene F-box and WD repeat domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2725 Neighboring gene long intergenic non-protein coding RNA 3046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103483003-103483722 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103489563-103490062

    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. Deciphering cellular and molecular determinants of human DPCD protein in complex with RUVBL1/RUVBL2 AAA-ATPases. Dos Santos Morais R, et al. J Mol Biol, 2022 Oct 15. PMID 35901867
    2. Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia. Zariwala M, et al. Am J Respir Cell Mol Biol, 2004 Apr. PMID 14630615
    3. Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan. Wong CK, et al. Mol Cancer Res, 2020 Mar. PMID 31932471, Free PMC Article
    4. IKK-Mediated Regulation of the COP9 Signalosome via Phosphorylation of CSN5. Zhang J, et al. J Proteome Res, 2020 Mar 6. PMID 31950832, Free PMC Article
    5. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deciphering cellular and molecular determinants of human DPCD protein in complex with RUVBL1/RUVBL2 AAA-ATPases.
      Title: Deciphering cellular and molecular determinants of human DPCD protein in complex with RUVBL1/RUVBL2 AAA-ATPases.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    3. a novel candidate gene for primary ciliary dyskinesia
      Title: Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.
    4. The mouse homolog of this gene (named Dpcd, for Deleted in a mouse model of Primary Ciliary Dyskinesia) appears to be responsible for an inner arm defect in cilia.
      Title: Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.
    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

    • DKFZp566F084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cilium movement involved in extracellular fluid movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lateral ventricle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in third ventricle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    protein DPCD
    Names
    RP11-529I10.4
    deleted in a mouse model of primary ciliary dyskinesia

    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.

    Genomic

    1. NG_051289.1 RefSeqGene

      Range
      5034..26375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329742.2 → NP_001316671.1  protein DPCD isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL627424, BX361465

    2. NM_001329743.2 → NP_001316672.1  protein DPCD isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL627424, DB475718

    3. NM_001329744.2 → NP_001316673.1  protein DPCD isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL627424, BM782340, BU681755
      Consensus CDS
      CCDS86141.1
      UniProtKB/TrEMBL
      Q5JQQ4
      Related
      ENSP00000359166.1, ENST00000370147.5

    4. NM_001329745.2 → NP_001316674.1  protein DPCD isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL627424

    5. NM_001329746.2 → NP_001316675.1  protein DPCD isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL627424
      Conserved Domains (1) summary
      pfam14913
      Location:6 → 50
      DPCD; DPCD protein family

    6. NM_015448.3 → NP_056263.1  protein DPCD isoform 2

      See identical proteins and their annotated locations for NP_056263.1

      Status: REVIEWED

      Source sequence(s)
      BC001082, BX361465, HY030728
      Consensus CDS
      CCDS7514.1
      UniProtKB/Swiss-Prot
      A8K289, Q6QNL3, Q8N5R1, Q9BVM2, Q9UFY6
      Related
      ENSP00000359170.4, ENST00000370151.9
      Conserved Domains (1) summary
      pfam14913
      Location:6 → 194
      DPCD; DPCD protein family

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101588321..101609662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102472358..102493735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVM2.2 GenPept UniProtKB/Swiss-Prot:Q9BVM2

    Gene LinkOut

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

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