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Wdr36 WD repeat domain 36 [ Mus musculus (house mouse) ]

Gene ID: 225348, updated on 21-Apr-2024

Summary

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Official Symbol
Wdr36provided by MGI
Official Full Name
WD repeat domain 36provided by MGI
Primary source
MGI:MGI:1917819
See related
Ensembl:ENSMUSG00000038299 AllianceGenome:MGI:1917819
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
Ta-wdrp; 5730444A13Rik
Summary
Acts upstream of or within regulation of axon extension and retina homeostasis. Predicted to be located in nucleolus. Predicted to be part of Pwp2p-containing subcomplex of 90S preribosome and small-subunit processome. Is expressed in several structures, including adrenal gland; alimentary system; lung; spleen; and testis. Human ortholog(s) of this gene implicated in glaucoma and primary open angle glaucoma. Orthologous to human WDR36 (WD repeat domain 36). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 8.0), placenta adult (RPKM 7.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
18 B1; 18 18.13 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (32970241..33000008)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (32837188..32866955)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930455D15 gene Neighboring gene predicted gene, 26378 Neighboring gene thymic stromal lymphopoietin Neighboring gene microRNA 6361 Neighboring gene RIKEN cDNA 2310026I22 gene Neighboring gene calcium/calmodulin-dependent protein kinase IV

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. The WD40 repeat protein, WDR36, orchestrates sphingosine kinase-1 recruitment and phospholipase C-β activation by G(q)-coupled receptors. Blankenbach KV, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2020 Jul. PMID 32244061
  2. Heterozygote Wdr36-deficient mice do not develop glaucoma. Gallenberger M, et al. Exp Eye Res, 2014 Nov. PMID 25261604
  3. Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. Gallenberger M, et al. Hum Mol Genet, 2011 Feb 1. PMID 21051332
  4. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Chi ZL, et al. Hum Mol Genet, 2010 Oct 1. PMID 20631153, Free PMC Article
  5. DDB1 binds histone reader BRWD3 to activate the transcriptional cascade in adipogenesis and promote onset of obesity. Wang X, et al. Cell Rep, 2021 Jun 22. PMID 34161765

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The WD40 repeat protein, WDR36, orchestrates sphingosine kinase-1 recruitment and phospholipase C-beta activation by Gq-coupled receptors.
    Title: The WD40 repeat protein, WDR36, orchestrates sphingosine kinase-1 recruitment and phospholipase C-β activation by G(q)-coupled receptors.
  2. Our data obtained in Wdr36(+/-) mice do not support the assumption of a causative role for WDR36 in the pathogenesis of primary open-angle glaucoma.
    Title: Heterozygote Wdr36-deficient mice do not develop glaucoma.
  3. results provide evidence that WDR36 is an essential protein in mammalian cells which is involved in the nucleolar processing of small subunit 18S rRNA
    Title: Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.
  4. WDR36 plays an important functional role in the retina homeostasis and mutation to this gene can cause devastating retinal damage.
    Title: Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC38421

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of axon extension IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retina homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal small subunit biogenesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of Pwp2p-containing subcomplex of 90S preribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of small-subunit processome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of small-subunit processome ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
WD repeat-containing protein 36

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_001110015.2 → NP_001103485.1  WD repeat-containing protein 36 isoform 1

    See identical proteins and their annotated locations for NP_001103485.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest variant and encodes the longest isoform (1).
    Source sequence(s)
    AC140983
    Consensus CDS
    CCDS50246.1
    UniProtKB/TrEMBL
    Q3TAQ9, Q505Q0
    Related
    ENSMUSP00000052465.10, ENSMUST00000053663.11
    Conserved Domains (4) summary
    COG2319
    Location:137 → 612
    WD40; WD40 repeat [General function prediction only]
    pfam04192
    Location:674 → 895
    Utp21; Utp21 specific WD40 associated putative domain
    sd00039
    Location:74 → 107
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:279 → 598
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_001110016.2 → NP_001103486.1  WD repeat-containing protein 36 isoform 2

    See identical proteins and their annotated locations for NP_001103486.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses and alternate splice site in the 3' terminal exon, compared to variant 1, which results in a shorter protein (isoform 2) with a distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AC140983
    Consensus CDS
    CCDS50245.1
    UniProtKB/TrEMBL
    Q3TA68, Q505Q0
    Related
    ENSMUSP00000132189.2, ENSMUST00000166214.9
    Conserved Domains (4) summary
    COG2319
    Location:137 → 612
    WD40; WD40 repeat [General function prediction only]
    pfam04192
    Location:674 → 872
    Utp21; Utp21 specific WD40 associated putative domain
    sd00039
    Location:74 → 107
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:279 → 598
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. NM_144863.5 → NP_659112.2  WD repeat-containing protein 36 isoform 3

    See identical proteins and their annotated locations for NP_659112.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and has multiple 3' coding region differences, compared to variant 1, which result in a shorter protein (isoform 3) with a distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AC140983
    UniProtKB/TrEMBL
    Q8BHI6
    Related
    ENSMUST00000234158.2
    Conserved Domains (3) summary
    COG2319
    Location:98 → 484
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:74 → 107
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:102 → 367
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    32970241..33000008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525847.4 → XP_006525910.1  WD repeat-containing protein 36 isoform X1

    UniProtKB/TrEMBL
    Q505Q0
    Conserved Domains (3) summary
    sd00039
    Location:74 → 107
    7WD40; WD40 repeat [structural motif]
    pfam04192
    Location:674 → 873
    Utp21; Utp21 specific WD40 associated putative domain
    cl29593
    Location:279 → 598
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
Nucleotide Protein Strain
Heading Accession and Version

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