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Aliases for WDR45 Gene

Aliases for WDR45 Gene

  • WD Repeat Domain 45 2 3
  • WIPI4 3 4 6
  • Neurodegeneration With Brain Iron Accumulation 5 2 3
  • WD Repeat-Containing Protein 45 3 4
  • WD Repeat Domain, X-Linked 1 2 3
  • WIPI-4 3 4
  • WDRX1 3 4
  • NBIA5 3 6
  • WD45 Repeat Protein Interacting With Phosphoinositides 4 3
  • WD Repeat Domain Phosphoinositide-Interacting Protein 4 3
  • Neurodegeneration With Brain Iron Accumulation 4 3
  • WDRXI4 4
  • NBIA4 3
  • JM5 3

External Ids for WDR45 Gene

Previous HGNC Symbols for WDR45 Gene

  • WDRX1

Previous GeneCards Identifiers for WDR45 Gene

  • GC0XM048688
  • GC0XM048819
  • GC0XM048929
  • GC0XM046588

Summaries for WDR45 Gene

Entrez Gene Summary for WDR45 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for WDR45 Gene

WDR45 (WD Repeat Domain 45) is a Protein Coding gene. Diseases associated with WDR45 include neurodegeneration with brain iron accululation 5 and alcohol-related neurodevelopmental disorder. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is ENSG00000250232.

UniProtKB/Swiss-Prot for WDR45 Gene

  • Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

Gene Wiki entry for WDR45 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR45 Gene

Genomics for WDR45 Gene

Regulatory Elements for WDR45 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for WDR45 Gene

Start:
49,074,433 bp from pter
End:
49,101,170 bp from pter
Size:
26,738 bases
Orientation:
Minus strand

Genomic View for WDR45 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WDR45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR45 Gene

Proteins for WDR45 Gene

  • Protein details for WDR45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y484-WIPI4_HUMAN
    Recommended name:
    WD repeat domain phosphoinositide-interacting protein 4
    Protein Accession:
    Q9Y484
    Secondary Accessions:
    • A6NGH5
    • B7WPI2
    • Q5MNZ5
    • Q6IBS7
    • Q6NT94
    • Q96H03

    Protein attributes for WDR45 Gene

    Size:
    360 amino acids
    Molecular mass:
    39868 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for WDR45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR45 Gene

Proteomics data for WDR45 Gene at MOPED

Post-translational modifications for WDR45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WDR45 Gene

Domains for WDR45 Gene

Gene Families for WDR45 Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for WDR45 Gene

Suggested Antigen Peptide Sequences for WDR45 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y484

UniProtKB/Swiss-Prot:

WIPI4_HUMAN :
  • Q9Y484
Family:
  • Belongs to the WD repeat SVP1 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with WDR45: view

Function for WDR45 Gene

Molecular function for WDR45 Gene

UniProtKB/Swiss-Prot Function: Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

Gene Ontology (GO) - Molecular Function for WDR45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0032266 phosphatidylinositol-3-phosphate binding IBA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IBA --
genes like me logo Genes that share ontologies with WDR45: view

Animal Model Products

CRISPR Products

miRNA for WDR45 Gene

miRTarBase miRNAs that target WDR45

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for WDR45 Gene

Localization for WDR45 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR45 Gene COMPARTMENTS Subcellular localization image for WDR45 gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for WDR45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
GO:0019898 extrinsic component of membrane IBA --
GO:0034045 pre-autophagosomal structure membrane IBA --
genes like me logo Genes that share ontologies with WDR45: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for WDR45 Gene

Pathways for WDR45 Gene

SuperPathways for WDR45 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagic vacuole assembly IBA --
GO:0000422 mitochondrion degradation IBA --
GO:0006497 protein lipidation IBA --
GO:0006914 autophagy IMP 23435086
GO:0006995 cellular response to nitrogen starvation IBA --
genes like me logo Genes that share ontologies with WDR45: view

No data available for Pathways by source for WDR45 Gene

Transcripts for WDR45 Gene

Unigene Clusters for WDR45 Gene

WD repeat domain 45:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR45

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR45 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: -
SP6: -
SP7: - -
SP8: - - - - - - - - - - - -
SP9: - - -
SP10:
SP11: -
SP12: - - -
SP13:

ExUns: 14b ^ 15a · 15b · 15c ^ 16
SP1: -
SP2:
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for WDR45 Gene

GeneLoc Exon Structure for
WDR45
ECgene alternative splicing isoforms for
WDR45

Expression for WDR45 Gene

mRNA expression in normal human tissues for WDR45 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR45 Gene

SOURCE GeneReport for Unigene cluster for WDR45 Gene Hs.632807

mRNA Expression by UniProt/SwissProt for WDR45 Gene

Q9Y484-WIPI4_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.
genes like me logo Genes that share expressions with WDR45: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WDR45 Gene

Orthologs for WDR45 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WDR45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR45 35
  • 99.82 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia WDR45 35
  • 92.96 (n)
  • 99.17 (a)
WDR45 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR45 35
  • 93.44 (n)
  • 98.06 (a)
WDR45 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr45 35
  • 90.83 (n)
  • 97.78 (a)
Wdr45 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 93 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.7559 35
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr45 35
  • 75.37 (n)
  • 88.54 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.409 35
zebrafish
(Danio rerio)
Actinopterygii wdr45 35
  • 76.54 (n)
  • 90.5 (a)
wdr45 36
  • 89 (a)
OneToMany
zgc56345 35
worm
(Caenorhabditis elegans)
Secernentea epg-6 35
  • 43.05 (n)
  • 34.36 (a)
epg-6 36
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSV2 36
  • 24 (a)
OneToMany
HSV2 38
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC458.06 35
  • 44.58 (n)
  • 36.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.844 35
Species with no ortholog for WDR45:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WDR45 Gene

ENSEMBL:
Gene Tree for WDR45 (if available)
TreeFam:
Gene Tree for WDR45 (if available)

Paralogs for WDR45 Gene

Paralogs for WDR45 Gene

Pseudogenes.org Pseudogenes for WDR45 Gene

genes like me logo Genes that share paralogs with WDR45: view

Variants for WDR45 Gene

Sequence variations from dbSNP and Humsavar for WDR45 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1057170 -- 49,083,559(+) GTGGG(C/T)GTCAC intron-variant
rs1057171 -- 49,083,603(+) TTTCC(C/T)TTGCT intron-variant
rs1057172 -- 49,083,622(+) CCCCC(A/T)CTGTC intron-variant
rs1806596 -- 49,103,040(-) tctct(A/C)ctaaa upstream-variant-2KB
rs2238976 -- 49,078,686(-) ACAAG(A/T)CAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WDR45 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
esv28729 CNV Loss 19812545

Relevant External Links for WDR45 Gene

HapMap Linkage Disequilibrium report
WDR45
Human Gene Mutation Database (HGMD)
WDR45

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR45 Gene

Disorders for WDR45 Gene

(1) OMIM Diseases for WDR45 Gene (300526)

UniProtKB/Swiss-Prot

WIPI4_HUMAN
  • Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. {ECO:0000269 PubMed:23435086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for WDR45 Gene

genes like me logo Genes that share disorders with WDR45: view

Publications for WDR45 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. (PMID: 15602573) Proikas-Cezanne T. … Nordheim A. (Oncogene 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  4. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. (PMID: 23435086) Saitsu H. … Matsumoto N. (Nat. Genet. 2013) 3 4
  5. Neurodegeneration with Brain Iron Accumulation Disorders Overview (PMID: 23447832) Pagon R.A. … Stephens K. ( 1993) 3

Products for WDR45 Gene

Sources for WDR45 Gene

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