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    Dpcd deleted in primary ciliary dyskinesia [ Mus musculus (house mouse) ]

    Gene ID: 226162, updated on 9-May-2024

    Summary

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    Official Symbol
    Dpcdprovided by MGI
    Official Full Name
    deleted in primary ciliary dyskinesiaprovided by MGI
    Primary source
    MGI:MGI:1924407
    See related
    Ensembl:ENSMUSG00000041035 AllianceGenome:MGI:1924407
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ndac; Gm17018
    Summary
    Acts upstream of or within several processes, including flagellated sperm motility; left/right pattern formation; and ventricular system development. Used to study hydrocephalus and primary ciliary dyskinesia. Orthologous to human DPCD (deleted in primary ciliary dyskinesia homolog (mouse)). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 12.3), frontal lobe adult (RPKM 12.2) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dpcd in Genome Data Viewer
    Location:
    19 C3; 19 38.75 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (45549018..45566728)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (45560583..45578289)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene beta-transducin repeat containing protein Neighboring gene ribosomal protein L6 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:45602595-45602796 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:45634643-45634844 Neighboring gene STARR-positive B cell enhancer ABC_E9999 Neighboring gene predicted gene, 41856 Neighboring gene predicted gene, 19639 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:45652022-45652175 Neighboring gene polymerase (DNA directed), lambda Neighboring gene AmnSINE1 enhancer AS071 Neighboring gene F-box and WD-40 domain protein 4 Neighboring gene STARR-seq mESC enhancer starr_46281 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:45758150-45758404 Neighboring gene CR4 enhancer downstream of Fgf8 Neighboring gene RIKEN cDNA 4933429K18 gene Neighboring gene CR2 enhancer downstream of Fgf8 Neighboring gene Fgf8 enhancer CR1 Neighboring gene fibroblast growth factor 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Kobayashi Y, et al. Mol Cell Biol, 2002 Apr. PMID 11909969, Free PMC Article
    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. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. Geremek M, et al. J Appl Genet, 2004. PMID 15306728
    4. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Cova G, et al. Nat Commun, 2023 Mar 17. PMID 36928426, Free PMC Article
    5. Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice. Vogel P, et al. Vet Pathol, 2010 Jan. PMID 20080492

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. situs inversus in Dpcd/Poll-/- knockout mice
      Title: Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • 5330431N19Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lateral ventricle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within third ventricle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein DPCD
    Names
    neighbor of Dac

    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_001356947.1 → NP_001343876.1  protein DPCD isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, resulting in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a novel N-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AK077347, BB656836, BC027559, BQ032258
      Conserved Domains (1) summary
      pfam14913
      Location:28 → 135
      DPCD; DPCD protein family

    2. NM_172639.3 → NP_766227.1  protein DPCD isoform 1

      See identical proteins and their annotated locations for NP_766227.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC126454, AK077347, BB656836, BQ032258
      Consensus CDS
      CCDS29862.1
      UniProtKB/Swiss-Prot
      Q8BPA8, Q8K1L8
      Related
      ENSMUSP00000045683.8, ENSMUST00000047057.9
      Conserved Domains (1) summary
      pfam14913
      Location:6 → 195
      DPCD; DPCD protein family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      45549018..45566728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030250901.2 → XP_030106761.1  protein DPCD isoform X2

      Conserved Domains (1) summary
      pfam14913
      Location:28 → 135
      DPCD; DPCD protein family

    2. XM_011247238.4 → XP_011245540.1  protein DPCD isoform X1

      See identical proteins and their annotated locations for XP_011245540.1

      Conserved Domains (1) summary
      pfam14913
      Location:2 → 170
      DPCD; DPCD protein family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BPA8.1 GenPept UniProtKB/Swiss-Prot:Q8BPA8

    Gene LinkOut

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

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