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; macroautophagy; and positive regulation of autophagosome assembly. Predicted to be located in phagophore assembly site. Predicted to be active in cytosol and phagophore assembly site membrane. Is expressed in several structures, including adrenal gland; brain; early embryo; genitourinary system; and pancreas. 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, Oct 2024]
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
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Genomic context

Location:: X A1.1; X 3.48 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7588212..7594439)
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

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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 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?

Pathological characteristics of axons and alterations of proteomic and lipidomic profiles in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.
Title: Pathological characteristics of axons and alterations of proteomic and lipidomic profiles in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.
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.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126644 (e-PCR)
- UniSTS:209494

MDB0809 (e-PCR)
- UniSTS:125038

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidylinositol phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	IEA Inferred from Electronic Annotation 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 autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagy of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy of peroxisome	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein lipidation involved in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to phagophore assembly site	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in phagophore assembly site	ISO Inferred from Sequence Orthology more info
located_in phagophore assembly site	ISS Inferred from Sequence or Structural Similarity more info
is_active_in phagophore assembly site membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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_001290792.2 → 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) encodes isoform a. Variants 1-3 and 5-13 all encode the same isoform (a).

Source sequence(s)

AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9

UniProtKB/TrEMBL

A2AEV5

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_001290794.2 → 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 1-3 and 5-13 all encode the same isoform (a).

Source sequence(s)

AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9

UniProtKB/TrEMBL

A2AEV5

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_001290795.2 → 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. Variants 4 and 17 both encode the same isoform (b).

Source sequence(s)

AL671995

Consensus CDS

CCDS72331.1

UniProtKB/TrEMBL

A0A140LHC1

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_001426270.1 → NP_001413199.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426271.1 → NP_001413200.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426273.1 → NP_001413202.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426274.1 → NP_001413203.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426275.1 → NP_001413204.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426276.1 → NP_001413205.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426277.1 → NP_001413206.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426278.1 → NP_001413207.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426279.1 → NP_001413208.1 WD repeat domain phosphoinositide-interacting protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AL671995

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9
NM_001426280.1 → NP_001413209.1 WD repeat domain phosphoinositide-interacting protein 4 isoform c

Status: VALIDATED

Source sequence(s)

AL671995

Related

ENSMUSP00000147232.2, ENSMUST00000207589.2
NM_001426281.1 → NP_001413210.1 WD repeat domain phosphoinositide-interacting protein 4 isoform c

Status: VALIDATED

Source sequence(s)

AL671995
NM_001426282.1 → NP_001413211.1 WD repeat domain phosphoinositide-interacting protein 4 isoform c

Status: VALIDATED

Source sequence(s)

AL671995
NM_001426283.1 → NP_001413212.1 WD repeat domain phosphoinositide-interacting protein 4 isoform b

Status: VALIDATED

Source sequence(s)

AL671995
NM_001426284.1 → NP_001413213.1 WD repeat domain phosphoinositide-interacting protein 4 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (18) encodes the longest isoform (d).

Source sequence(s)

AL671995
NM_001426286.1 → NP_001413215.1 WD repeat domain phosphoinositide-interacting protein 4 isoform e

Status: VALIDATED

Source sequence(s)

AL671995

Related

ENSMUSP00000147163.2, ENSMUST00000207675.2
NM_172372.3 → 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 1-3 and 5-13 all encode the same isoform (a).

Source sequence(s)

AL671995

Consensus CDS

CCDS29970.1

UniProtKB/Swiss-Prot

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9

UniProtKB/TrEMBL

A2AEV5

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 ...

RNA

NR_189681.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL671995
NR_189682.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL671995
NR_189683.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL671995

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_000086.8 Reference GRCm39 C57BL/6J

Range

7588212..7594439

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_017318561.3 → XP_017174050.1 WD repeat domain phosphoinositide-interacting protein 4 isoform X3

UniProtKB/TrEMBL

A0A140LHC1

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

A2AEV3, A2AEV4, Q91VM3, Q9CVF7, Q9JIG9

UniProtKB/TrEMBL

A2AEV5

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 ...