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    WIPI1 WD repeat domain, phosphoinositide interacting 1 [ Homo sapiens (human) ]

    Gene ID: 55062, updated on 8-Jun-2017
    Official Symbol
    WIPI1provided by HGNC
    Official Full Name
    WD repeat domain, phosphoinositide interacting 1provided by HGNC
    Primary source
    HGNC:HGNC:25471
    See related
    Ensembl:ENSG00000070540 MIM:609224; Vega:OTTHUMG00000179873
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATG18; ATG18A; WIPI49
    Summary
    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]
    Orthologs
    Location:
    17q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (68421281..68457524, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66417422..66453653, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene archaelysin family metallopeptidase 2 Neighboring gene solute carrier family 16 member 6 Neighboring gene arylsulfatase G Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene microRNA 635 Neighboring gene uncharacterized LOC105371873 Neighboring gene FAM20A, golgi associated secretory pathway pseudokinase Neighboring gene long intergenic non-protein coding RNA 1482

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - other, organism-specific biosystem (from KEGG)
      Autophagy - other, organism-specific biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
    • Autophagy - other, conserved biosystem (from KEGG)
      Autophagy - other, conserved biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    androgen receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    estrogen receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    autophagy IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein lipidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein localization to pre-autophagosomal structure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    vesicle targeting, trans-Golgi to endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    pre-autophagosomal structure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pre-autophagosomal structure membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    WD repeat domain phosphoinositide-interacting protein 1
    Names
    WIPI-1 alpha
    atg18 protein homolog

    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)

    1. NM_001320772.1NP_001307701.1  WD repeat domain phosphoinositide-interacting protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC007780, AK301830, BC039867, BI764142
      Consensus CDS
      CCDS82193.1
      UniProtKB/Swiss-Prot
      Q5MNZ9
      UniProtKB/TrEMBL
      B4DX63, G5EA37
      Related
      ENSP00000437345.1, OTTHUMP00000262858, ENST00000546360.5, OTTHUMT00000448742
      Conserved Domains (3) summary
      COG2319
      Location:14180
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:63102
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:6180
      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 ...
    2. NM_017983.6NP_060453.3  WD repeat domain phosphoinositide-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_060453.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC007780, BC039867, BI764142
      Consensus CDS
      CCDS11677.1
      UniProtKB/Swiss-Prot
      Q5MNZ9
      Related
      ENSP00000262139.4, OTTHUMP00000262856, ENST00000262139.9, OTTHUMT00000448739
      Conserved Domains (3) summary
      COG2319
      Location:77262
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:145184
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:88262
      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

    1. NR_135470.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007780
      Related
      ENST00000589459.5
    2. NR_135471.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007780

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      68421281..68457524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024808.1XP_016880297.1  WD repeat domain phosphoinositide-interacting protein 1 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      66482061..66518186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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