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Aliases for WDR45B Gene

Aliases for WDR45B Gene

  • WD Repeat Domain 45B 2 3 5
  • WD Repeat Domain Phosphoinositide-Interacting Protein 3 3 4
  • WD Repeat-Containing Protein 45-Like 3 4
  • WD Repeat-Containing Protein 45B 3 4
  • WIPI49-Like Protein 3 4
  • WDR45-Like Protein 3 4
  • WDR45L 3 4
  • WIPI-3 3 4
  • WIPI3 3 4
  • WD Repeat Protein 45-Like 3
  • WIPI3 Long 3
  • WDR45-Like 2
  • NEDSBAS 3

External Ids for WDR45B Gene

Previous HGNC Symbols for WDR45B Gene

  • WDR45L

Previous GeneCards Identifiers for WDR45B Gene

  • GC17M080574

Summaries for WDR45B Gene

Entrez Gene Summary for WDR45B Gene

  • This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for WDR45B Gene

WDR45B (WD Repeat Domain 45B) is a Protein Coding gene. Diseases associated with WDR45B include Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures and Spastic Quadriplegia. Among its related pathways are Autophagy Pathway and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is WDR45.

UniProtKB/Swiss-Prot for WDR45B Gene

  • Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735).

Gene Wiki entry for WDR45B Gene

Additional gene information for WDR45B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR45B Gene

Genomics for WDR45B Gene

GeneHancer (GH) Regulatory Elements for WDR45B Gene

Promoters and enhancers for WDR45B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR45B on UCSC Golden Path with GeneCards custom track

Genomic Locations for WDR45B Gene

Genomic Locations for WDR45B Gene
chr17:82,614,562-82,648,553
(GRCh38/hg38)
Size:
33,992 bases
Orientation:
Minus strand
chr17:80,572,438-80,606,429
(GRCh37/hg19)
Size:
33,992 bases
Orientation:
Minus strand

Genomic View for WDR45B Gene

Genes around WDR45B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR45B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR45B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR45B Gene

Proteins for WDR45B Gene

  • Protein details for WDR45B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5MNZ6-WIPI3_HUMAN
    Recommended name:
    WD repeat domain phosphoinositide-interacting protein 3
    Protein Accession:
    Q5MNZ6
    Secondary Accessions:
    • A0A024R8U4
    • A0A218N098
    • O95328
    • Q2MCP6
    • Q6IBN2

    Protein attributes for WDR45B Gene

    Size:
    344 amino acids
    Molecular mass:
    38122 Da
    Quaternary structure:
    • Interacts with the TSC1-TSC2 complex; stimulated upon starvation (PubMed:28561066). Interacts with RB1CC1 (PubMed:28561066).
    SequenceCaution:
    • Sequence=AAC72952.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=ASF79340.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for WDR45B Gene

Post-translational modifications for WDR45B Gene

  • Ubiquitination at isoforms=278
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR45B Gene

Domains & Families for WDR45B Gene

Gene Families for WDR45B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for WDR45B Gene

Suggested Antigen Peptide Sequences for WDR45B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60701, highly similar to WD repeat domain phosphoinositide-interacting protein 3 (B4DMI6_HUMAN)
  • WIPI49-like protein (WIPI3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5MNZ6

UniProtKB/Swiss-Prot:

WIPI3_HUMAN :
  • Belongs to the WD repeat SVP1 family.
Family:
  • Belongs to the WD repeat SVP1 family.
genes like me logo Genes that share domains with WDR45B: view

Function for WDR45B Gene

Molecular function for WDR45B Gene

UniProtKB/Swiss-Prot Function:
Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735).

Phenotypes From GWAS Catalog for WDR45B Gene

Gene Ontology (GO) - Molecular Function for WDR45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28561066
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IBA,IDA 28561066
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA,IBA 28561066
genes like me logo Genes that share ontologies with WDR45B: view
genes like me logo Genes that share phenotypes with WDR45B: view

Human Phenotype Ontology for WDR45B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for WDR45B Gene

miRTarBase miRNAs that target WDR45B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR45B

Clone Products

  • Applied Biological Materials (abm): Clones for WDR45B - Now 50% OFF >
  • * WDR45B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * WDR45B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR45B Gene

Localization for WDR45B Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR45B Gene

Preautophagosomal structure. Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR45B gene
Compartment Confidence
lysosome 5
cytosol 4
golgi apparatus 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IEA,IDA 28561066
GO:0005764 lysosome IEA,IDA 28561066
GO:0005829 cytosol IBA 21873635
GO:0019898 extrinsic component of membrane IBA 21873635
GO:0034045 phagophore assembly site membrane IBA 21873635
genes like me logo Genes that share ontologies with WDR45B: view

Pathways & Interactions for WDR45B Gene

PathCards logo

SuperPathways for WDR45B Gene

genes like me logo Genes that share pathways with WDR45B: view

Pathways by source for WDR45B Gene

2 Reactome pathways for WDR45B Gene

Gene Ontology (GO) - Biological Process for WDR45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 28561066
GO:0000422 autophagy of mitochondrion IBA 21873635
GO:0006497 protein lipidation IBA 21873635
GO:0006914 autophagy IEA --
GO:0009267 cellular response to starvation IDA 28561066
genes like me logo Genes that share ontologies with WDR45B: view

No data available for SIGNOR curated interactions for WDR45B Gene

Drugs & Compounds for WDR45B Gene

No Compound Related Data Available

Transcripts for WDR45B Gene

mRNA/cDNA for WDR45B Gene

Unigene Clusters for WDR45B Gene

WD repeat domain 45B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR45B

Clone Products

  • Applied Biological Materials (abm): Clones for WDR45B - Now 50% OFF >
  • * WDR45B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * WDR45B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for WDR45B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6: - -
SP7: - - - - -
SP8:

Relevant External Links for WDR45B Gene

GeneLoc Exon Structure for
WDR45B
ECgene alternative splicing isoforms for
WDR45B

Expression for WDR45B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR45B Gene

Protein differential expression in normal tissues from HIPED for WDR45B Gene

This gene is overexpressed in Breast (39.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR45B Gene



Protein tissue co-expression partners for WDR45B Gene

NURSA nuclear receptor signaling pathways regulating expression of WDR45B Gene:

WDR45B

SOURCE GeneReport for Unigene cluster for WDR45B Gene:

Hs.132161

mRNA Expression by UniProt/SwissProt for WDR45B Gene:

Q5MNZ6-WIPI3_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in heart, skeletal muscle and pancreas. Up-regulated in a variety of tumor tissues including ovarian and uterine cancers.
genes like me logo Genes that share expression patterns with WDR45B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR45B Gene

Orthologs for WDR45B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WDR45B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR45L 35 34
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR45B 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDR45L 35 34
  • 92.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR45B 35 34
  • 91.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr45b 17 35 34
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Wdr45b 34
  • 90.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WDR45B 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR45B 35
  • 97 (a)
OneToOne
WDR45L 34
  • 87.5 (n)
lizard
(Anolis carolinensis)
Reptilia WDR45B 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr45b 34
  • 82.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5528 34
zebrafish
(Danio rerio)
Actinopterygii wdr45l 35 34
  • 80.23 (n)
OneToOne
zgc56002 34
fruit fly
(Drosophila melanogaster)
Insecta CG11975 35 34
  • 64.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012792 34
  • 64.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSV2 35
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ATG18C 34
  • 51.15 (n)
rice
(Oryza sativa)
Liliopsida Os01g0168500 34
  • 54.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToOne
Cin.576 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.576 34
Species where no ortholog for WDR45B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WDR45B Gene

ENSEMBL:
Gene Tree for WDR45B (if available)
TreeFam:
Gene Tree for WDR45B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR45B: view image

Paralogs for WDR45B Gene

Paralogs for WDR45B Gene

(3) SIMAP similar genes for WDR45B Gene using alignment to 5 proteins:

  • WIPI3_HUMAN
  • I3L1D0_HUMAN
  • I3L3A5_HUMAN
  • I3L4L8_HUMAN
  • I3L4S6_HUMAN

Pseudogenes.org Pseudogenes for WDR45B Gene

genes like me logo Genes that share paralogs with WDR45B: view

Variants for WDR45B Gene

Sequence variations from dbSNP and Humsavar for WDR45B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1555647262 pathogenic, NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES 82,617,303(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs786205510 likely-pathogenic, pathogenic, not provided, NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES 82,619,074(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1000075676 -- 82,618,738(-) T/C intron_variant
rs1000235333 -- 82,623,761(-) T/C intron_variant
rs1000377304 -- 82,634,690(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WDR45B Gene

Variant ID Type Subtype PubMed ID
esv1010132 CNV insertion 20482838
esv1510304 CNV insertion 17803354
esv21913 CNV gain+loss 19812545
esv2668610 CNV deletion 23128226
esv2675908 CNV deletion 23128226
esv2716511 CNV deletion 23290073
esv2716512 CNV deletion 23290073
esv2762577 CNV gain+loss 21179565
esv3448719 CNV insertion 20981092
esv3641433 CNV loss 21293372
esv3641435 CNV loss 21293372
nsv1062980 CNV gain 25217958
nsv1067194 CNV gain 25217958
nsv1067362 CNV gain 25217958
nsv1067553 CNV loss 25217958
nsv428351 CNV gain 18775914

Variation tolerance for WDR45B Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR45B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR45B
Human Gene Mutation Database (HGMD)
WDR45B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR45B Gene

Disorders for WDR45B Gene

MalaCards: The human disease database

(4) MalaCards diseases for WDR45B Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
  • nedsbas
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
quadriplegia
  • tetraplegia
spastic cerebral palsy
  • palsy, cerebral, spastic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WIPI3_HUMAN
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS) [MIM:617977]: An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. {ECO:0000269 PubMed:28503735}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for WDR45B

genes like me logo Genes that share disorders with WDR45B: view

No data available for Genatlas for WDR45B Gene

Publications for WDR45B Gene

  1. WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy. (PMID: 28561066) Bakula D … Proikas-Cezanne T (Nature communications 2017) 3 4 58
  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 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. (PMID: 28503735) Suleiman J … El-Hattab AW (Clinical genetics 2018) 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

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Sources for WDR45B Gene

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