Wdr54 WD repeat domain 54 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr54provided by MGI
Official Full Name: WD repeat domain 54provided by MGI
Primary source: MGI:MGI:1922909
See related: Ensembl:ENSMUSG00000030032 AllianceGenome:MGI:1922909
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: 1700030E05Rik
Summary: Predicted to enable protein homodimerization activity. Predicted to be involved in cilium assembly; negative regulation of receptor internalization; and regulation of signal transduction. Predicted to be located in intracellular membrane-bounded organelle and vesicle. Predicted to be active in axoneme. Orthologous to human WDR54 (WD repeat domain 54). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 31.5), whole brain E14.5 (RPKM 5.0) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 35.94 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (83129691..83133383, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (83152710..83156524, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Submit: New GeneRIF Correction

General gene information

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Markers

U54638 (e-PCR)
- UniSTS:163392

Rtkn (e-PCR), detects polymorphism
- UniSTS:144363

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of epidermal growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in single fertilization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: WD repeat-containing protein 54

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_001362119.1 → NP_001349048.1 WD repeat-containing protein 54 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

BC083332, BY232896

Consensus CDS

CCDS20275.1

UniProtKB/Swiss-Prot

Q3U4A4, Q9R0D8

Related

ENSMUSP00000122873.3, ENSMUST00000125894.9

Conserved Domains (2) summary

COG2319
Location:131 → 324

WD40; WD40 repeat [General function prediction only]

sd00039
Location:72 → 119

7WD40; WD40 repeat [structural motif]
NM_001362120.1 → NP_001349049.1 WD repeat-containing protein 54 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC104324, AC160400

Conserved Domains (2) summary

COG2319
Location:64 → 257

WD40; WD40 repeat [General function prediction only]

sd00039
Location:100 → 142

7WD40; WD40 repeat [structural motif]
NM_023790.2 → NP_076279.1 WD repeat-containing protein 54 isoform a

See identical proteins and their annotated locations for NP_076279.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AK006536, BY232896, BY540708

Consensus CDS

CCDS20275.1

UniProtKB/Swiss-Prot

Q3U4A4, Q9R0D8

Related

ENSMUSP00000116608.2, ENSMUST00000153148.8

Conserved Domains (2) summary

COG2319
Location:131 → 324

WD40; WD40 repeat [General function prediction only]

sd00039
Location:72 → 119

7WD40; WD40 repeat [structural motif]

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_000072.7 Reference GRCm39 C57BL/6J

Range

83129691..83133383 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255653.2 → XP_030111513.1 WD repeat-containing protein 54 isoform X1

Conserved Domains (2) summary

COG2319
Location:164 → 357

WD40; WD40 repeat [General function prediction only]

sd00039
Location:200 → 242

7WD40; WD40 repeat [structural motif]
XM_030255655.2 → XP_030111515.1 WD repeat-containing protein 54 isoform X3

Conserved Domains (2) summary

COG2319
Location:40 → 185

WD40; WD40 repeat [General function prediction only]

sd00039
Location:76 → 108

7WD40; WD40 repeat [structural motif]
XM_036152387.1 → XP_036008280.1 WD repeat-containing protein 54 isoform X2

Conserved Domains (2) summary

COG2319
Location:64 → 257

WD40; WD40 repeat [General function prediction only]

sd00039
Location:100 → 142

7WD40; WD40 repeat [structural motif]
XM_030255654.2 → XP_030111514.1 WD repeat-containing protein 54 isoform X1

Conserved Domains (2) summary

COG2319
Location:164 → 357

WD40; WD40 repeat [General function prediction only]

sd00039
Location:200 → 242

7WD40; WD40 repeat [structural motif]