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WIPI1 Gene

protein-coding   GIFtS: 60
GCID: GC17M066417

WD Repeat Domain, Phosphoinositide Interacting 1

  See WIPI1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WD Repeat Domain, Phosphoinositide Interacting 11 2     ATG18A2
Atg18 Protein Homolog2 3     WD Repeat Domain Phosphoinositide-Interacting Protein 12
WIPI492 3     WD40 Repeat Protein Interacting With PhosphoInositides Of 49kDa2
WD40 Repeat Protein Interacting With Phosphoinositides Of 49 KDa2 3     WIPI-1 Alpha2
WIPI 49 KDa2 3     WIPI-13
ATG182     

External Ids:    HGNC: 254711   Entrez Gene: 550622   Ensembl: ENSG000000705407   OMIM: 6092245   UniProtKB: Q5MNZ93   

Export aliases for WIPI1 gene to outside databases

Previous GC identifers: GC17M063930 GC17M061803


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WIPI1 Gene:
WD40 repeat proteins 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, such as WIPI1, have a 7-bladed propeller
structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 (PubMed
15602573)).(supplied by OMIM, Mar 2008)

GeneCards Summary for WIPI1 Gene:
WIPI1 (WD repeat domain, phosphoinositide interacting 1) is a protein-coding gene. Diseases associated with WIPI1 include alcohol-related neurodevelopmental disorder. GO annotations related to this gene include estrogen receptor binding and receptor binding. An important paralog of this gene is WIPI2.

UniProtKB/Swiss-Prot: WIPI1_HUMAN, Q5MNZ9
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

Gene Wiki entry for WIPI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WIPI1 gene promoter:
         Pbx1a   NCX/Ncx   FOXD1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   FOXO3b   MEF-2A   FOXO4   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWIPI1 promoter sequence
   Search Chromatin IP Primers for WIPI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WIPI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24.2

WIPI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WIPI1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M066417:  view genomic region     (about GC identifiers)

Start:
66,417,089 bp from pter      End:
66,453,654 bp from pter
Size:
36,566 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: WIPI1_HUMAN, Q5MNZ9 (See protein sequence)
Recommended Name: WD repeat domain phosphoinositide-interacting protein 1  
Size: 446 amino acids; 48673 Da
Subunit: 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
Secondary accessions: Q8IXM5 Q9NWF8
Alternative splicing: 2 isoforms:  Q5MNZ9-1   Q5MNZ9-2   

Explore the universe of human proteins at neXtProt for WIPI1: NX_Q5MNZ9

Explore proteomics data for WIPI1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WIPI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060453.3  
    ENSEMBL proteins: 
     ENSP00000465695   ENSP00000262139   ENSP00000465470   ENSP00000465557   ENSP00000437345  
     ENSP00000466270  
    Reactome Protein details: Q5MNZ9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5MNZ9

    ProtoNet protein and cluster: Q5MNZ9

    UniProtKB/Swiss-Prot: WIPI1_HUMAN, Q5MNZ9
    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)
    Similarity: Belongs to the WD repeat SVP1 family
    Similarity: Contains 3 WD repeats


    Find genes that share domains with WIPI1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WIPI1_HUMAN, Q5MNZ9
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IDA15602573
    GO:0005515protein binding ----
    GO:0030331estrogen receptor binding IDA15602573
    GO:0032266phosphatidylinositol-3-phosphate binding IDA15020712
    GO:0050681androgen receptor binding IDA15602573
         
    Find genes that share ontologies with WIPI1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for WIPI1:
     Decreased melanin production  G0/1 arrest  Increased G1 DNA content  Increased cell number in G2M,  
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for WIPI1

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    SwitchGear 3'UTR luciferase reporter plasmidWIPI1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WIPI1_HUMAN, Q5MNZ9: 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: 

    CompartmentConfidence
    cytoskeleton5
    endosome5
    vacuole5
    golgi apparatus4
    cytosol3
    lysosome2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0000407pre-autophagosomal structure IDA15602573
    GO:0000421autophagic vacuole membrane IDA17618624
    GO:0005737cytoplasm IDA17618624
    GO:0005802trans-Golgi network IDA15020712

    Find genes that share ontologies with WIPI1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for WIPI1 About    
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with WIPI1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for WIPI1
        XBP1(S) activates chaperone genes


        Pathway & Disease-focused RT2 Profiler PCR Arrays including WIPI1: 
              Autophagy in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for WIPI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for WIPI1 (Q5MNZ92, 3 ENSP000002621394) via UniProtKB, MINT, STRING, and/or I2D (see all 233)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IBA--
    GO:0006914autophagy IEP15602573
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with WIPI1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WIPI1

    1 HMDB Compound for WIPI1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WIPI1 gene: 
    NM_017983.5  

    Unigene Cluster for WIPI1:

    WD repeat domain, phosphoinositide interacting 1
    Hs.463964  [show with all ESTs]
    Unigene Representative Sequence: NM_017983
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592645 ENST00000262139(uc010dey.3 uc010wqo.2) ENST00000589459
    ENST00000589316 ENST00000585393 ENST00000546360 ENST00000590402 ENST00000591744
    ENST00000587731 ENST00000591494 ENST00000586815
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    Additional mRNA sequence: 

    AK000917.1 AK301830.1 BC039867.2 

    12 DOTS entries:

    DT.100649887  DT.100649885  DT.408467  DT.75144725  DT.95374867  DT.92433615  DT.216523  DT.75120605 
    DT.121009762  DT.75183313  DT.92433614  DT.411051 

    Selected AceView cDNA sequences (see all 174):

    AA418418 AI436218 CR597380 CR603211 BQ772613 CR613131 AW571483 AW105466 
    BF593630 BQ083923 AL571251 AA890032 BX337285 BM990552 BC039867 BX324849 
    BI869063 AW275186 BF739941 N53726 CD370670 CB178752 BX379652 CR626829 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WIPI1 (see all 6)    About this scheme

    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:                    -           -                                                                                                         


    ECgene alternative splicing isoforms for WIPI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WIPI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATGCAAA
    WIPI1 Expression
    About this image


    WIPI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    WIPI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WIPI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463964

    UniProtKB/Swiss-Prot: WIPI1_HUMAN, Q5MNZ9
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including WIPI1: 
              Autophagy in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for WIPI1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wipi11 , 5 WD repeat domain, phosphoinositide interacting 11, 5 87.44(n)1
    94.39(a)1
      11 (72.18 cM)5
    526391  NM_145940.21  NP_666052.11 
     1095733315 
    chicken
    (Gallus gallus)
    Aves WIPI11 WD repeat domain, phosphoinositide interacting 1 80.05(n)
    86.46(a)
      417437  XM_415688.4  XP_415688.4 
    lizard
    (Anolis carolinensis)
    Reptilia WIPI16
    WD repeat domain, phosphoinositide interacting 1
    81(a)
    1 ↔ 1
    GL343260.1(1623468-1678871)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia wipi11 WD repeat domain, phosphoinositide interacting 1 71.65(n)
    77.91(a)
      496656  NM_001078693.1  NP_001072161.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc642052 hypothetical protein MGC64205 75.2(n)   393362  BC053306.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg186
    Autophagy-specific gene 18
    41(a)
    1 → many
    3L(8180095-8184065)
    worm
    (Caenorhabditis elegans)
    Secernentea atg-186
    Protein ATG-18, isoform a
    38(a)
    1 → many
    V(8629221-8631325) WBGene00018294
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG186
    Phosphoinositide binding protein required for vesi...
    23(a)
    1 → many
    VI(194812-196314) YFR021W


    ENSEMBL Gene Tree for WIPI1 (if available)
    TreeFam Gene Tree for WIPI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WIPI1 gene
    WIPI22  
    3 SIMAP similar genes for WIPI1 using alignment to 6 protein entries:     WIPI1_HUMAN (see all proteins):
    WIPI2    WDR45    WDR45B

    Find genes that share paralogs with WIPI1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for WIPI1 (see all 804)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401914451,2
    C--66417542(+) ATGTAA/TTATAC 1 -- ut310--------
    rs753367901,2
    C,F--66417557(+) AATACA/CATTCA 1 -- ut311Minor allele frequency- C:0.09WA 118
    rs107301,2
    C--66417614(+) AAGGAG/TGCCCC 1 -- ut31 ese3 trp32Minor allele frequency- T:0.00MN NA 186
    rs780197531,2
    C,F--66417644(+) TTATAT/CACCAA 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs1119088721,2
    C,F--66417655(+) TATGGC/TTAATT 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1181723741,2
    C,F--66417720(+) TCTCCC/TGCGCC 1 -- ut311Minor allele frequency- T:0.03NA 120
    rs1819183171,2
    --66417788(+) AAGCAA/GTGGAG 1 -- ut310--------
    rs1862513341,2
    --66417813(+) GCCCCC/TCTTTC 1 -- ut310--------
    rs1438631611,2
    C--66417847(+) CTTCCA/GCCTTC 1 -- ut310--------
    rs2010661181,2
    C--66417883(+) AGGGGG/TGATGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for WIPI1 (66417089 - 66453654 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for WIPI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1105165CNV Insertion17803354
    esv993931CNV Insertion20482838
    esv2557973CNV Insertion19546169
    nsv833523CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WIPI1
    DNA2.0 Custom Variant and Variant Library Synthesis for WIPI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609224    OMIM disorders: --

    1 disease for WIPI1:    
    About MalaCards
    alcohol-related neurodevelopmental disorder

    1 disease from the University of Copenhagen DISEASES database for WIPI1:
    alcohol-related neurodevelopmental disorder

    Find genes that share disorders with WIPI1           About GenesLikeMe

    Genetic Association Database (GAD): WIPI1
    Human Genome Epidemiology (HuGE) Navigator: WIPI1 (1 document)

    Export disorders for WIPI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for WIPI1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with WIPI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PtdIns-specific MPR pathway association of a novel WD40 repeat protein, WIPI49. (PubMed id 15020712)1, 2, 3, 9 Jeffries T.R.... Parker P.J. (Mol. Biol. Cell 2004)
    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. (PubMed id 15602573)1, 2, 3 Proikas-Cezanne T....Nordheim A. (Oncogene 2004)
    3. WIPI1 coordinates melanogenic gene transcription and melanosome formation via TORC1 inhibition. (PubMed id 21317285)1, 2 Ho H.... Ganesan A.K. (J. Biol. Chem. 2011)
    4. Freeze-fracture replica immunolabelling reveals human WIPI-1 and WIPI-2 as membrane proteins of autophagosomes. (PubMed id 21564513)1, 2 Proikas-Cezanne T. and Robenek H. (J. Cell. Mol. Med. 2011)
    5. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PubMed id 19936222)1, 4 Chasman D.I....Ridker P.M. (PLoS Genet. 2009)
    6. Human WIPI-1 puncta-formation: a novel assay to assess mammalian autophagy. (PubMed id 17618624)1, 2 Proikas-Cezanne T....Nordheim A. (FEBS Lett. 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. AMPK-independent induction of autophagy by cytosolic Ca2+ increase. (PubMed id 20114074)2, 9 Grotemeier A.... Stork B. (Cell. Signal. 2010)
    10. WIPI-1 positive autophagosome-like vesicles entrap pathogenic Staphylococcus aureus for lysosomal degradation. (PubMed id 22829830)2 Mauthe M....Proikas-Cezanne T. (Int. J. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55062 HGNC: 25471 AceView: WIPI49 Ensembl:ENSG00000070540 euGenes: HUgn55062
    ECgene: WIPI1 H-InvDB: WIPI1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for WIPI1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for WIPI1 gene:
    Search GeneIP for patents involving WIPI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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