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Wdr19 WD repeat domain 19 [ Mus musculus (house mouse) ]

Gene ID: 213081, updated on 5-Mar-2024

Summary

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Official Symbol
Wdr19provided by MGI
Official Full Name
WD repeat domain 19provided by MGI
Primary source
MGI:MGI:2443231
See related
Ensembl:ENSMUSG00000037890 AllianceGenome:MGI:2443231
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
DYF2; PWDMP; Ift144; mKIAA1638; C330027H04Rik; D330023L08Rik
Summary
Acts upstream of or within several processes, including embryonic organ development; myotome development; and smoothened signaling pathway. Located in motile cilium and photoreceptor connecting cilium. Part of intraciliary transport particle A. Is expressed in prostate gland; salivary gland; and testis. Used to study ciliopathy. Human ortholog(s) of this gene implicated in several diseases, including Caroli disease; Senior-Loken syndrome; asphyxiating thoracic dystrophy 5; cranioectodermal dysplasia 4; and nephronophthisis 13. Orthologous to human WDR19 (WD repeat domain 19). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 6.3), frontal lobe adult (RPKM 3.9) and 21 other tissues See more
Orthologs
human all
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Genomic context

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See Wdr19 in Genome Data Viewer
Location:
5 C3.1; 5 33.58 cM
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (65357039..65417758)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (65199696..65260415)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13256 Neighboring gene transmembrane protein 156 Neighboring gene STARR-seq mESC enhancer starr_13258 Neighboring gene STARR-seq mESC enhancer starr_13259 Neighboring gene kelch-like 5 Neighboring gene predicted gene, 54287 Neighboring gene STARR-positive B cell enhancer ABC_E849 Neighboring gene replication factor C (activator 1) 1 Neighboring gene STARR-seq mESC enhancer starr_13260 Neighboring gene STARR-positive B cell enhancer ABC_E6334 Neighboring gene klotho beta

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. Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice. Yu SS, et al. J Pathol, 2022 May. PMID 35007346
  2. Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium. Lin B, et al. Genomics, 2003 Sep. PMID 12906858
  3. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Blewitt ME, et al. Proc Natl Acad Sci U S A, 2005 May 24. PMID 15890782, Free PMC Article
  4. Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. Jiang ST, et al. Hum Mol Genet, 2009 May 1. PMID 19208653
  5. Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia. Efimenko E, et al. Mol Biol Cell, 2006 Nov. PMID 16957054, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice.
    Title: Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice.
  2. Mutations in Ift144, encoding a component of the trafficking machinery of primary cilia assembly, result in a range of embryo patterning defects, affecting the limbs, skeleton and neural system. Here, we show that embryos
    Title: Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice.
  3. study describes a mouse with an N-ethyl-N-nitrosourea -induced hypomorphic mutation in the gene encoding the IFT-A protein WDR19/IFT144; phenotypically, this mutant, twinkle-toes (Ift144twt), displays a number of features reminiscent of skeletal ciliopathies; Ift144 mutant embryos display a generalized ligand-independent expansion of hedgehog signalling
    Title: Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.
  4. A weak allele of the IFT-A gene, Ift144, caused subtle defects in cilia structure and ectopic activation of the Shh pathway.
    Title: The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking.
  5. Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones.
    Title: Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Transgenic (1) 
  • Chemically induced (ENU) (2)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cilium assembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cilium assembly ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within digestive system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic camera-type eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within gonad development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within intraciliary retrograde transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in intraciliary retrograde transport NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within myotome development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within nervous system process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to ciliary membrane ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein localization to cilium ISO
Inferred from Sequence Orthology
more info
  
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within receptor clustering IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cilium NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
part_of intraciliary transport particle A IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of intraciliary transport particle A IDA
Inferred from Direct Assay
more info
 PubMed 
part_of intraciliary transport particle A ISO
Inferred from Sequence Orthology
more info
  
located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
WD repeat-containing protein 19
Names
WD repeat membrane protein PWDMP
intraflagellar transport 144 homolog

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_001359879.1 → NP_001346808.1  WD repeat-containing protein 19 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC138654, AK147970
    Consensus CDS
    CCDS51509.1
    UniProtKB/Swiss-Prot
    Q3UGF1, Q6ZPK8, Q80VQ6, Q8C794, Q8K3R5
    Related
    ENSMUSP00000144866.2, ENSMUST00000203653.3
    Conserved Domains (7) summary
    COG0457
    Location:755 → 1045
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:19 → 345
    WD40; WD40 repeat [General function prediction only]
    sd00006
    Location:779 → 803
    TPR; TPR repeat [structural motif]
    sd00039
    Location:20 → 55
    7WD40; WD40 repeat [structural motif]
    pfam12773
    Location:1253 → 1296
    DZR; Double zinc ribbon
    pfam15911
    Location:508 → 564
    WD40_3; WD domain, G-beta repeat
    cl26078
    Location:851 → 964
    Clathrin; Region in Clathrin and VPS

  2. NM_001359880.1 → NP_001346809.1  WD repeat-containing protein 19 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence conpared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC132222, AC138654, AK052303
    Related
    ENSMUST00000204647.3
    Conserved Domains (6) summary
    COG0457
    Location:748 → 937
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:19 → 345
    WD40; WD40 repeat [General function prediction only]
    sd00006
    Location:779 → 803
    TPR; TPR repeat [structural motif]
    sd00039
    Location:20 → 55
    7WD40; WD40 repeat [structural motif]
    pfam15911
    Location:508 → 564
    WD40_3; WD domain, G-beta repeat
    cl26078
    Location:851 → 964
    Clathrin; Region in Clathrin and VPS

  3. NM_153391.2 → NP_700440.2  WD repeat-containing protein 19 isoform a

    See identical proteins and their annotated locations for NP_700440.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variant 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC132222, AC138654
    Consensus CDS
    CCDS51509.1
    UniProtKB/Swiss-Prot
    Q3UGF1, Q6ZPK8, Q80VQ6, Q8C794, Q8K3R5
    Related
    ENSMUSP00000038098.9, ENSMUST00000041892.13
    Conserved Domains (7) summary
    COG0457
    Location:755 → 1045
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:19 → 345
    WD40; WD40 repeat [General function prediction only]
    sd00006
    Location:779 → 803
    TPR; TPR repeat [structural motif]
    sd00039
    Location:20 → 55
    7WD40; WD40 repeat [structural motif]
    pfam12773
    Location:1253 → 1296
    DZR; Double zinc ribbon
    pfam15911
    Location:508 → 564
    WD40_3; WD domain, G-beta repeat
    cl26078
    Location:851 → 964
    Clathrin; Region in Clathrin and VPS

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    65357039..65417758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UGF1.1 GenPept UniProtKB/Swiss-Prot:Q3UGF1

Gene LinkOut

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