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

Summary

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 part of Pwp2p-containing subcomplex of 90S preribosome and small-subunit processome. Is expressed in several structures, including adrenal gland; alimentary system; lung; submandibular gland primordium; 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, Nov 2024]
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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

NM_001110015.2 → NP_001103485.1 WD repeat-containing protein 36 isoform 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 ...
NM_001110016.2 → NP_001103486.1 WD repeat-containing protein 36 isoform 2

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

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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

32970241..33000008

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...