Wdr45 WD repeat domain 45 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr45provided by MGI
Official Full Name: WD repeat domain 45provided by MGI
Primary source: MGI:MGI:1859606
See related: Ensembl:ENSMUSG00000039382 AllianceGenome:MGI:1859606
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: JM5; Sfc19; Wdrx1; WIPI-4; DXImx38e
Summary: Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity; phosphatidylinositol-3-phosphate binding activity; and protein kinase binding activity. Predicted to be involved in several processes, including autophagy of mitochondrion; autophagy of nucleus; and protein localization to phagophore assembly site. Predicted to be located in phagophore assembly site. Predicted to be active in cytosol and phagophore assembly site membrane. Predicted to be extrinsic component of membrane. Is expressed in 2-cell stage embryo; 4-cell stage embryo; and lung. Used to study neurodegeneration with brain iron accumulation 5. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation 5. Orthologous to human WDR45 (WD repeat domain 45). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 12.1), genital fat pad adult (RPKM 9.0) and 28 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: X A1.1; X 3.48 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7588193..7594440)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (7721987..7728201)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Title: A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Physiological significance of WDR45, a responsible gene for beta-propeller protein associated neurodegeneration (BPAN), in brain development.
Title: Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
Role of Wdr45b in maintaining neural autophagy and cognitive function.
Title: Role of Wdr45b in maintaining neural autophagy and cognitive function.
WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.
Title: WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.
Nes-Wdr45(fl/Y) mice recapitulate some hallmarks of beta-propeller protein-associated neurodegeneration, including cognitive impairment and defective axonal homeostasis
Title: The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH126644 (e-PCR)
- UniSTS:209494

MDB0809 (e-PCR)
- UniSTS:125038

MARC_3991-3992:996679250:1 (e-PCR)
- UniSTS:269302

Homology

Homologs of the Wdr45 gene: The Wdr45 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, zebrafish, C.elegans, S.pombe, and frog.
Orthologs from Annotation Pipeline: 399 organisms have orthologs with human gene Wdr45
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in autophagy of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in autophagy of nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in protein lipidation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein localization to phagophore assembly site	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in extrinsic component of membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in phagophore assembly site	ISO Inferred from Sequence Orthology more info
is_active_in phagophore assembly site membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: WD repeat domain phosphoinositide-interacting protein 4

Names: WD repeat domain, X-linked 1; WD repeat-containing protein 45

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001290792.1 → NP_001277721.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

See identical proteins and their annotated locations for NP_001277721.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 encode isoform a.

Source sequence(s)

AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

Q91VM3, Q9JIG9

Related

ENSMUSP00000041456.3, ENSMUST00000043045.10

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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_001290794.1 → NP_001277723.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

See identical proteins and their annotated locations for NP_001277723.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode isoform a.

Source sequence(s)

AI854309, AK145616, AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

Q91VM3, Q9JIG9

Related

ENSMUSP00000111351.2, ENSMUST00000115687.8

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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_001290795.1 → NP_001277724.1 WD repeat domain phosphoinositide-interacting protein 4 isoform b

See identical proteins and their annotated locations for NP_001277724.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AL671995

Consensus CDS

CCDS72331.1

UniProtKB/Swiss-Prot

Q91VM3

Related

ENSMUSP00000111352.2, ENSMUST00000115688.8

Conserved Domains (1) summary

cl29593
Location:186 → 224

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_172372.2 → NP_758960.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

See identical proteins and their annotated locations for NP_758960.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode isoform a.

Source sequence(s)

AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

Q91VM3, Q9JIG9

Related

ENSMUSP00000111353.4, ENSMUST00000115689.10

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

7588193..7594440

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251393.2 → XP_030107253.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_030251394.2 → XP_030107254.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_030251396.2 → XP_030107256.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X3

Conserved Domains (1) summary

cl29593
Location:186 → 224

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 ...
XM_006527659.3 → XP_006527722.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X2

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_030251395.2 → XP_030107255.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X2

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_036162027.1 → XP_036017920.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X4

Conserved Domains (2) summary

sd00039
Location:87 → 123

7WD40; WD40 repeat [structural motif]

cl29593
Location:78 → 165

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 ...
XM_030251392.2 → XP_030107252.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_030251388.1 → XP_030107248.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_006527661.2 → XP_006527724.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X4

See identical proteins and their annotated locations for XP_006527724.1

Conserved Domains (2) summary

sd00039
Location:87 → 123

7WD40; WD40 repeat [structural motif]

cl29593
Location:78 → 165

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 ...
XM_006527656.3 → XP_006527719.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

See identical proteins and their annotated locations for XP_006527719.1

UniProtKB/Swiss-Prot

Q91VM3, Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_017318561.3 → XP_017174050.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X3

UniProtKB/Swiss-Prot

Q91VM3

Conserved Domains (1) summary

cl29593
Location:186 → 224

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 ...
XM_006527662.3 → XP_006527725.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X4

See identical proteins and their annotated locations for XP_006527725.1

Conserved Domains (2) summary

sd00039
Location:87 → 123

7WD40; WD40 repeat [structural motif]

cl29593
Location:78 → 165

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 ...
XM_030251390.2 → XP_030107250.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...
XM_030251391.2 → XP_030107251.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X1

UniProtKB/Swiss-Prot

Q9JIG9

Conserved Domains (2) summary

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

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 ...