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

Gene ID: 226162, updated on 5-Mar-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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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)
  • 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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