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

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: mouse all
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Genomic context

Location:: 17q24.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (68421281..68457496, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (69297798..69334178, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (66417422..66453637, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ABL-MYC axis controls WIPI1-enhanced autophagy in lifespan extension.
Title: The ABL-MYC axis controls WIPI1-enhanced autophagy in lifespan extension.
WIPI1 promotes fission of endosomal transport carriers and formation of autophagosomes through distinct mechanisms.
Title: WIPI1 promotes fission of endosomal transport carriers and formation of autophagosomes through distinct mechanisms.
WIPI-1 inhibits metastasis and tumour growth via the WIPI-1-TRIM21 axis and MYC regulation in nasopharyngeal carcinoma.
Title: WIPI-1 inhibits metastasis and tumour growth via the WIPI-1-TRIM21 axis and MYC regulation in nasopharyngeal carcinoma.
WIPI1 promotes osteosarcoma cell proliferation by inhibiting CDKN1A.
Title: WIPI1 promotes osteosarcoma cell proliferation by inhibiting CDKN1A.
WIPI1 is a conserved mediator of right ventricular failure.
Title: WIPI1 is a conserved mediator of right ventricular failure.
BAG1, CHMP2B, PEX3, and WIPI1 confirmed a strong differential gene expression, in 355 melanoma samples.
Title: WIPI1, BAG1, and PEX3 Autophagy-Related Genes Are Relevant Melanoma Markers.
The specific autophagosomal localization of both WIPI1 and WIPI2 (refered to as WIPI puncta) has been employed to assess autophagy using fluorescence microscopy methods, such as confocal and live-cell video microscopy
Title: Fluorescence-based imaging of autophagy progression by human WIPI protein detection.
Data suggest WIPI1/WIPI2 co-localize with microtubule-associated light chain 3 and autophagy related proteins 2/14L, participate in biogenesis of phagosomes, autophagy, and mobilization of lipids to/from intracellular droplets. [review-like article]
Title: WIPI β-propellers at the crossroads of autophagosome and lipid droplet dynamics.
WIPI-1 and WIPI-2 are functionally required in mediating the PI3P signal at the onset of autophagy in NB4 cells.
Title: WIPI-dependent autophagy during neutrophil differentiation of NB4 acute promyelocytic leukemia cells.
the detection of WIPI1 mRNA is likely to be a convenient method of monitoring autophagosome formation in a wide range of cell types
Title: Detection of WIPI1 mRNA as an indicator of autophagosome formation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93843 (e-PCR)
- UniSTS:86299

SHGC-146295 (e-PCR)
- UniSTS:175132

SHGC-155164 (e-PCR)
- UniSTS:183087

STS-N51941 (e-PCR)
- UniSTS:79921

RH80612 (e-PCR)
- UniSTS:83808

RH122789 (e-PCR)
- UniSTS:135024

SHGC-146131 (e-PCR)
- UniSTS:175027

SHGC-78791 (e-PCR)
- UniSTS:100815

RH16580 (e-PCR)
- UniSTS:44519

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear androgen receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear estrogen receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed

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	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
is_active_in extrinsic component of membrane	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: WD repeat domain phosphoinositide-interacting protein 1

Names: WIPI-1 alpha; atg18 protein homolog

NCBI Reference Sequences (RefSeq)

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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)

NM_001320772.2 → NP_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:63 → 102

7WD40; WD40 repeat [structural motif]

cl29593
Location:6 → 180

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 ...
NM_017983.7 → NP_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:77 → 262

WD40; WD40 repeat [General function prediction only]

sd00039
Location:145 → 184

7WD40; WD40 repeat [structural motif]

cl02567
Location:88 → 262

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

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
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