Wdr48 WD repeat domain 48 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr48provided by MGI
Official Full Name: WD repeat domain 48provided by MGI
Primary source: MGI:MGI:1914811
See related: Ensembl:ENSMUSG00000032512 AllianceGenome:MGI:1914811
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: Uaf1; mKIAA1449; 8430408H12Rik
Summary: Predicted to enable DNA binding activity; deubiquitinase activator activity; and ubiquitin binding activity. Acts upstream of or within several processes, including double-strand break repair via homologous recombination; regulation of protein monoubiquitination; and seminiferous tubule development. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in femur. Orthologous to human WDR48 (WD repeat domain 48). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 56.7), adrenal adult (RPKM 18.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F4; 9 71.33 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (119723961..119755652)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (119894895..119926586)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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 UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
Title: The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
USP1/UAF1-Stabilized METTL3 Promotes Reactive Astrogliosis and Improves Functional Recovery after Spinal Cord Injury through m[6]A Modification of YAP1 mRNA.
Title: USP1/UAF1-Stabilized METTL3 Promotes Reactive Astrogliosis and Improves Functional Recovery after Spinal Cord Injury through m(6)A Modification of YAP1 mRNA.
UAF1 deubiquitinase complexes facilitate NLRP3 inflammasome activation by promoting NLRP3 expression.
Title: UAF1 deubiquitinase complexes facilitate NLRP3 inflammasome activation by promoting NLRP3 expression.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)

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

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables deubiquitinase activator activity	ISO Inferred from Sequence Orthology more info
enables deubiquitinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein monoubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within seminiferous tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: WD repeat-containing protein 48

Names: USP1-associated factor 1

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_001417835.1 → NP_001404764.1 WD repeat-containing protein 48 isoform 2

Status: VALIDATED

Source sequence(s)

AC124662

Related

ENSMUSP00000149478.2, ENSMUST00000215307.2
NM_001417836.1 → NP_001404765.1 WD repeat-containing protein 48 isoform 3

Status: VALIDATED

Source sequence(s)

AC124662
NM_026236.4 → NP_080512.1 WD repeat-containing protein 48 isoform 1

See identical proteins and their annotated locations for NP_080512.1

Status: VALIDATED

Source sequence(s)

AC124662

Consensus CDS

CCDS23618.1

UniProtKB/Swiss-Prot

Q80TD4, Q80XI0, Q8BH57, Q8BRM0, Q8CBK0, Q922Z9, Q9CRR1, Q9CSL0

Related

ENSMUSP00000042509.7, ENSMUST00000036561.8

Conserved Domains (4) summary

COG2319
Location:29 → 328

WD40; WD40 repeat [General function prediction only]

cd00200
Location:30 → 286

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 ...

pfam11816
Location:509 → 672

DUF3337; Domain of unknown function (DUF3337)

sd00039
Location:35 → 73

7WD40; WD40 repeat [structural motif]