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

Gene ID: 25911, updated on 2-Nov-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 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)

Genotypes

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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