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

    Gene ID: 55062, updated on 3-Dec-2024

    Summary

    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; AllianceGenome:HGNC:25471
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 11.9), heart (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WIPI1 in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68421281..68457496, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69297798..69334178, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66417422..66453637, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66287460-66287634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12644 Neighboring gene solute carrier family 16 member 6 Neighboring gene arylsulfatase G Neighboring gene Sharpr-MPRA regulatory region 10227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340482-66340982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340983-66341483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12647 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66374359-66374878 Neighboring gene MPRA-validated peak2959 silencer Neighboring gene tRNA-undetermined (NNN) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409262-66409920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409921-66410577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:66432181-66432681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8900 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66453793-66454079 Neighboring gene microRNA 635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8902 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66494688-66494871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66508045-66508618 Neighboring gene Sharpr-MPRA regulatory region 15560 Neighboring gene FAM20A golgi associated secretory pathway pseudokinase Neighboring gene Sharpr-MPRA regulatory region 13674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66627729-66628228 Neighboring gene long intergenic non-protein coding RNA 1482

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10055

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in autophagy of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagy of peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nucleophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of autophagosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein lipidation involved in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to phagophore assembly site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle targeting, trans-Golgi to endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagophore assembly site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in phagophore assembly site membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in phagophore assembly site membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    WD repeat domain phosphoinositide-interacting protein 1
    Names
    WIPI-1 alpha
    atg18 protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001320772.2NP_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/TrEMBL
      B4DX63, G5EA37
      Related
      ENSP00000437345.1, ENST00000546360.5
      Conserved Domains (2) summary
      sd00039
      Location:63102
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_017983.7NP_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, Q8IXM5, Q9NWF8
      UniProtKB/TrEMBL
      B4DX63
      Related
      ENSP00000262139.4, ENST00000262139.10
      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_135470.2 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
    2. NR_135471.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      68421281..68457496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024808.2XP_016880297.1  WD repeat domain phosphoinositide-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DX63

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      69297798..69334178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316594.1XP_054172569.1  WD repeat domain phosphoinositide-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DX63