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

Gene ID: 55062, updated on 12-Aug-2018

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; 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]
Expression
Ubiquitous expression in placenta (RPKM 11.9), heart (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See WIPI1 in Genome Data Viewer
Location:
17q24.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling 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
 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy IEP
Inferred from Expression Pattern
more info
PubMed 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
 
protein lipidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
phagophore assembly site IDA
Inferred from Direct Assay
more info
PubMed 
phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagophore assembly site membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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 (2) summary
    sd00039
    Location:63102
    7WD40; WD40 repeat [structural motif]
    cl25539
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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

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