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Aliases for WIPI1 Gene

Aliases for WIPI1 Gene

  • WD Repeat Domain, Phosphoinositide Interacting 1 2 3 5
  • Atg18 Protein Homolog 3 4
  • WIPI49 3 4
  • WD40 Repeat Protein Interacting With Phosphoinositides Of 49 KDa 4
  • WD Repeat Domain Phosphoinositide-Interacting Protein 1 3
  • WIPI-1 Alpha 3
  • WIPI 49 KDa 4
  • ATG18A 3
  • WIPI-1 4
  • ATG18 3

External Ids for WIPI1 Gene

Previous GeneCards Identifiers for WIPI1 Gene

  • GC17M063930
  • GC17M066417
  • GC17M061803

Summaries for WIPI1 Gene

Entrez Gene Summary for WIPI1 Gene

  • This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for WIPI1 Gene

WIPI1 (WD Repeat Domain, Phosphoinositide Interacting 1) is a Protein Coding gene. Among its related pathways are Autophagy Pathway and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and estrogen receptor binding. An important paralog of this gene is WIPI2.

UniProtKB/Swiss-Prot for WIPI1 Gene

  • Plays an important role in autophagy and in particular starvation- and calcium-mediated autophagy, as well as in mitophagy. Functions upstream of the ATG12-ATG5-ATG16L1 complex and LC3, and downstream of the ULK1 and PI3-kinase complexes. Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy. May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway.

Gene Wiki entry for WIPI1 Gene

Additional gene information for WIPI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WIPI1 Gene

Genomics for WIPI1 Gene

GeneHancer (GH) Regulatory Elements for WIPI1 Gene

Promoters and enhancers for WIPI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J068454 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.2 +1.1 1108 4.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A WIPI1 NOL11 PRKAR1A SNRPGP4 ABCA10 LINC01482 SLC16A6 MIR635 ENSG00000267009
GH17J068252 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 +200.8 200780 8.7 HDGF PKNOX1 FOXA2 SIN3A YY1 TCF12 ZNF121 ZNF207 ZNF143 ATF7 ARSG AMZ2 WIPI1 MIR635 BPTF ENSG00000265100
GH17J068204 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 +251.1 251134 3.2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 ZNF207 ZNF143 ENSG00000274712 GC17P068236 AMZ2 NOL11 HELZ ARHGAP27P2 BPTF WIPI1 LOC100418928 ENSG00000267731
GH17J068497 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -41.0 -40959 2.3 PKNOX1 BMI1 BATF KLF5 IRF4 RAD21 ZNF766 EGR1 ZNF207 ZNF143 PRKAR1A WIPI1 SLC16A6 GC17P068532 ENSG00000267009
GH17J068508 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.1 -54.8 -54839 6.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF548 SP3 PRKAR1A NOL11 BPTF FBXO36P1 ABCA9 ABCA10 SNRPGP4 LOC100418928 ENSG00000267731 WIPI1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WIPI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WIPI1 gene promoter:
  • MEF-2A
  • aMEF-2
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • NCX
  • FOXO4
  • FOXD1
  • FOXO3b

Genomic Locations for WIPI1 Gene

Genomic Locations for WIPI1 Gene
chr17:68,420,948-68,457,513
(GRCh38/hg38)
Size:
36,566 bases
Orientation:
Minus strand
chr17:66,417,089-66,453,654
(GRCh37/hg19)
Size:
36,566 bases
Orientation:
Minus strand

Genomic View for WIPI1 Gene

Genes around WIPI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WIPI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WIPI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WIPI1 Gene

Proteins for WIPI1 Gene

  • Protein details for WIPI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5MNZ9-WIPI1_HUMAN
    Recommended name:
    WD repeat domain phosphoinositide-interacting protein 1
    Protein Accession:
    Q5MNZ9
    Secondary Accessions:
    • Q8IXM5
    • Q9NWF8

    Protein attributes for WIPI1 Gene

    Size:
    446 amino acids
    Molecular mass:
    48673 Da
    Quaternary structure:
    • Interacts with androgen receptor (AR) and the estrogen receptors ESR1 and ESR2. Binds PtdIns3P and to a lesser extent, PtdIns3,5P2 and PtdIns5P in vitro. Interaction with PtdIns3P is required for recruitment to membranes.

    Alternative splice isoforms for WIPI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WIPI1 Gene

Post-translational modifications for WIPI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WIPI1 Gene

Domains & Families for WIPI1 Gene

Gene Families for WIPI1 Gene

Protein Domains for WIPI1 Gene

Suggested Antigen Peptide Sequences for WIPI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5MNZ9

UniProtKB/Swiss-Prot:

WIPI1_HUMAN :
  • The N-terminus might form a beta-propeller domain involved in specific binding to phosphatidylinositol 3,5-bisphosphate (PIP2), leading to the association of the protein to the membrane. Association to the membrane can also occur through binding to phosphatidylinositol 3-monophosphate (PI3P).
  • Belongs to the WD repeat SVP1 family.
Domain:
  • The N-terminus might form a beta-propeller domain involved in specific binding to phosphatidylinositol 3,5-bisphosphate (PIP2), leading to the association of the protein to the membrane. Association to the membrane can also occur through binding to phosphatidylinositol 3-monophosphate (PI3P).
Family:
  • Belongs to the WD repeat SVP1 family.
genes like me logo Genes that share domains with WIPI1: view

Function for WIPI1 Gene

Molecular function for WIPI1 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in autophagy and in particular starvation- and calcium-mediated autophagy, as well as in mitophagy. Functions upstream of the ATG12-ATG5-ATG16L1 complex and LC3, and downstream of the ULK1 and PI3-kinase complexes. Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy. May also regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway.

Phenotypes From GWAS Catalog for WIPI1 Gene

Gene Ontology (GO) - Molecular Function for WIPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IDA 15602573
GO:0005515 protein binding IEA --
GO:0030331 estrogen receptor binding IDA 15602573
GO:0032266 phosphatidylinositol-3-phosphate binding IDA,IEA 15020712
GO:0050681 androgen receptor binding IDA 15602573
genes like me logo Genes that share ontologies with WIPI1: view
genes like me logo Genes that share phenotypes with WIPI1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WIPI1

Clone Products

  • Addgene plasmids for WIPI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for WIPI1 Gene

Localization for WIPI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WIPI1 Gene

Golgi apparatus, trans-Golgi network. Endosome. Cytoplasmic vesicle, clathrin-coated vesicle. Preautophagosomal structure membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Trans elements of the Golgi and peripheral endosomes. Dynamically cycles through these compartments and is susceptible to conditions that modulate membrane flux. Enriched in clathrin-coated vesicles. Upon starvation-induced autophagy, accumulates at subcellular structures in the cytoplasm: enlarged vesicular and lasso-like structures, and large cup-shaped structures predominantly around the nucleus. Recruitment to autophagic membranes is controlled by MTMR14. Labile microtubules specifically recruit markers of autophagosome formation like WIPI1, whereas mature autophagosomes may bind to stable microtubules.

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 WIPI1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
endosome 5
cytosol 4
mitochondrion 2
lysosome 2
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for WIPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0000407 phagophore assembly site IDA 15602573
GO:0000421 autophagosome membrane IDA 17618624
GO:0005737 cytoplasm IDA,IEA 17618624
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with WIPI1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WIPI1 Gene

Pathways & Interactions for WIPI1 Gene

genes like me logo Genes that share pathways with WIPI1: view

Pathways by source for WIPI1 Gene

Gene Ontology (GO) - Biological Process for WIPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA --
GO:0000422 autophagy of mitochondrion IBA --
GO:0006497 protein lipidation IBA --
GO:0006914 autophagy IEP,IEA 15602573
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with WIPI1: view

No data available for SIGNOR curated interactions for WIPI1 Gene

Drugs & Compounds for WIPI1 Gene

(1) Drugs for WIPI1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mannose 6-phosphate Investigational Pharma 0
genes like me logo Genes that share compounds with WIPI1: view

Transcripts for WIPI1 Gene

mRNA/cDNA for WIPI1 Gene

Unigene Clusters for WIPI1 Gene

WD repeat domain, phosphoinositide interacting 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WIPI1

Clone Products

  • Addgene plasmids for WIPI1

Alternative Splicing Database (ASD) splice patterns (SP) for WIPI1 Gene

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

Relevant External Links for WIPI1 Gene

GeneLoc Exon Structure for
WIPI1
ECgene alternative splicing isoforms for
WIPI1

Expression for WIPI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WIPI1 Gene

mRNA differential expression in normal tissues according to GTEx for WIPI1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for WIPI1 Gene

This gene is overexpressed in Placenta (15.0), Skin (9.8), Salivary gland (9.0), and Heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WIPI1 Gene



NURSA nuclear receptor signaling pathways regulating expression of WIPI1 Gene:

WIPI1

SOURCE GeneReport for Unigene cluster for WIPI1 Gene:

Hs.463964

mRNA Expression by UniProt/SwissProt for WIPI1 Gene:

Q5MNZ9-WIPI1_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in skeletal muscle, heart, testis, pancreas and placenta. Highly expressed in G361, Sk-mel-28, Sk-mel-13, WM852 and WM451 cells. Up-regulated in a variety of tumor tissues.

Evidence on tissue expression from TISSUES for WIPI1 Gene

  • Skin(4.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with WIPI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for WIPI1 Gene

Orthologs for WIPI1 Gene

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

Orthologs for WIPI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WIPI1 34 33
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGC159964 34
  • 90 (a)
OneToOne
WIPI1 33
  • 83.71 (n)
dog
(Canis familiaris)
Mammalia WIPI1 34 33
  • 89.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WIPI1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wipi1 16 34 33
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia Wipi1 33
  • 87.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves WIPI1 34 33
  • 80.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WIPI1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wipi1 33
  • 71.65 (n)
zebrafish
(Danio rerio)
Actinopterygii wipi1 34 33
  • 68.4 (n)
OneToMany
WIPI1 (1 of 2) 34
  • 60 (a)
OneToMany
zgc64205 33
fruit fly
(Drosophila melanogaster)
Insecta Atg18 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atg-18 34
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG18 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
Species where no ortholog for WIPI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 (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 WIPI1 Gene

ENSEMBL:
Gene Tree for WIPI1 (if available)
TreeFam:
Gene Tree for WIPI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WIPI1: view image

Paralogs for WIPI1 Gene

Paralogs for WIPI1 Gene

(3) SIMAP similar genes for WIPI1 Gene using alignment to 6 proteins:

  • WIPI1_HUMAN
  • G5EA37_HUMAN
  • K7EK57_HUMAN
  • K7EKC5_HUMAN
  • K7EKN0_HUMAN
  • K7ELY0_HUMAN
genes like me logo Genes that share paralogs with WIPI1: view

Variants for WIPI1 Gene

Sequence variations from dbSNP and Humsavar for WIPI1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000047717 -- 68,442,560(-) G/T intron_variant
rs1000074772 -- 68,449,412(-) C/T 5_prime_UTR_variant, intron_variant
rs1000145471 -- 68,448,061(-) C/T intron_variant
rs1000167453 -- 68,425,684(-) A/G intron_variant
rs1000420079 -- 68,442,814(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WIPI1 Gene

Variant ID Type Subtype PubMed ID
esv1105165 CNV insertion 17803354
esv2557973 CNV insertion 19546169
esv3310445 CNV novel sequence insertion 20981092
esv3446295 CNV insertion 20981092
esv3447514 CNV insertion 20981092
esv993931 CNV insertion 20482838
nsv1111149 CNV tandem duplication 24896259
nsv833523 CNV gain 17160897

Variation tolerance for WIPI1 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WIPI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WIPI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WIPI1 Gene

Disorders for WIPI1 Gene

Additional Disease Information for WIPI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for WIPI1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WIPI1 Gene

Publications for WIPI1 Gene

  1. PtdIns-specific MPR pathway association of a novel WD40 repeat protein, WIPI49. (PMID: 15020712) Jeffries TR … Parker PJ (Molecular biology of the cell 2004) 2 3 4 22 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) 2 3 4 58
  3. WIPI1 coordinates melanogenic gene transcription and melanosome formation via TORC1 inhibition. (PMID: 21317285) Ho H … Ganesan AK (The Journal of biological chemistry 2011) 3 4 58
  4. Freeze-fracture replica immunolabelling reveals human WIPI-1 and WIPI-2 as membrane proteins of autophagosomes. (PMID: 21564513) Proikas-Cezanne T … Robenek H (Journal of cellular and molecular medicine 2011) 3 4 58
  5. AMPK-independent induction of autophagy by cytosolic Ca2+ increase. (PMID: 20114074) Grotemeier A … Stork B (Cellular signalling 2010) 4 22 58

Products for WIPI1 Gene

  • Addgene plasmids for WIPI1

Sources for WIPI1 Gene

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