Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55062
Gene name	WD repeat domain, phosphoinositide interacting 1
Gene symbol	WIPI1
Synonyms (NCBI Gene)	ATG18ATG18AWIPI49
Chromosome	17
Chromosome location	17q24.2
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 reversibl

Show/Hide all (80)

miRTarBase ID	miRNA	Experiments
MIRT1493011	hsa-miR-1254	CLIP-seq
MIRT1493012	hsa-miR-3116	CLIP-seq
MIRT1493013	hsa-miR-3152-5p	CLIP-seq
MIRT1493014	hsa-miR-3613-3p	CLIP-seq
MIRT1493015	hsa-miR-3667-3p	CLIP-seq
MIRT1493016	hsa-miR-4297	CLIP-seq
MIRT1493017	hsa-miR-4774-3p	CLIP-seq
MIRT1493018	hsa-miR-4794	CLIP-seq
MIRT1493019	hsa-miR-502-5p	CLIP-seq
MIRT1493020	hsa-miR-515-5p	CLIP-seq
MIRT1493021	hsa-miR-548u	CLIP-seq
MIRT1493022	hsa-miR-661	CLIP-seq
MIRT1493023	hsa-miR-718	CLIP-seq
MIRT2369047	hsa-miR-1471	CLIP-seq
MIRT2369048	hsa-miR-182	CLIP-seq
MIRT2441667	hsa-miR-136	CLIP-seq
MIRT2441668	hsa-miR-25	CLIP-seq
MIRT2441669	hsa-miR-32	CLIP-seq
MIRT2441670	hsa-miR-363	CLIP-seq
MIRT1493015	hsa-miR-3667-3p	CLIP-seq
MIRT2441671	hsa-miR-367	CLIP-seq
MIRT2441672	hsa-miR-377	CLIP-seq
MIRT1493016	hsa-miR-4297	CLIP-seq
MIRT2441673	hsa-miR-4325	CLIP-seq
MIRT1493019	hsa-miR-502-5p	CLIP-seq
MIRT1493023	hsa-miR-718	CLIP-seq
MIRT2441674	hsa-miR-92a	CLIP-seq
MIRT2441675	hsa-miR-92b	CLIP-seq
MIRT2441667	hsa-miR-136	CLIP-seq
MIRT2662491	hsa-miR-218	CLIP-seq
MIRT2441668	hsa-miR-25	CLIP-seq
MIRT2662492	hsa-miR-2964a-5p	CLIP-seq
MIRT2441669	hsa-miR-32	CLIP-seq
MIRT2662493	hsa-miR-3622a-3p	CLIP-seq
MIRT2662494	hsa-miR-3622b-3p	CLIP-seq
MIRT2441670	hsa-miR-363	CLIP-seq
MIRT1493015	hsa-miR-3667-3p	CLIP-seq
MIRT2441671	hsa-miR-367	CLIP-seq
MIRT2441672	hsa-miR-377	CLIP-seq
MIRT2662495	hsa-miR-4278	CLIP-seq
MIRT1493016	hsa-miR-4297	CLIP-seq
MIRT2662496	hsa-miR-4303	CLIP-seq
MIRT2441673	hsa-miR-4325	CLIP-seq
MIRT2662497	hsa-miR-4525	CLIP-seq
MIRT2662498	hsa-miR-4649-3p	CLIP-seq
MIRT2662499	hsa-miR-4716-3p	CLIP-seq
MIRT2662500	hsa-miR-4762-3p	CLIP-seq
MIRT1493019	hsa-miR-502-5p	CLIP-seq
MIRT1493020	hsa-miR-515-5p	CLIP-seq
MIRT2662501	hsa-miR-548aa	CLIP-seq
MIRT2662502	hsa-miR-636	CLIP-seq
MIRT1493023	hsa-miR-718	CLIP-seq
MIRT2441674	hsa-miR-92a	CLIP-seq
MIRT2441675	hsa-miR-92b	CLIP-seq
MIRT2441667	hsa-miR-136	CLIP-seq
MIRT2662491	hsa-miR-218	CLIP-seq
MIRT2441668	hsa-miR-25	CLIP-seq
MIRT2662492	hsa-miR-2964a-5p	CLIP-seq
MIRT2441669	hsa-miR-32	CLIP-seq
MIRT2662493	hsa-miR-3622a-3p	CLIP-seq
MIRT2662494	hsa-miR-3622b-3p	CLIP-seq
MIRT2441670	hsa-miR-363	CLIP-seq
MIRT1493015	hsa-miR-3667-3p	CLIP-seq
MIRT2441671	hsa-miR-367	CLIP-seq
MIRT2441672	hsa-miR-377	CLIP-seq
MIRT2662495	hsa-miR-4278	CLIP-seq
MIRT1493016	hsa-miR-4297	CLIP-seq
MIRT2662496	hsa-miR-4303	CLIP-seq
MIRT2441673	hsa-miR-4325	CLIP-seq
MIRT2662497	hsa-miR-4525	CLIP-seq
MIRT2662498	hsa-miR-4649-3p	CLIP-seq
MIRT2662499	hsa-miR-4716-3p	CLIP-seq
MIRT2662500	hsa-miR-4762-3p	CLIP-seq
MIRT1493019	hsa-miR-502-5p	CLIP-seq
MIRT1493020	hsa-miR-515-5p	CLIP-seq
MIRT2662501	hsa-miR-548aa	CLIP-seq
MIRT2662502	hsa-miR-636	CLIP-seq
MIRT1493023	hsa-miR-718	CLIP-seq
MIRT2441674	hsa-miR-92a	CLIP-seq
MIRT2441675	hsa-miR-92b	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IMP	28561066
GO:0000139	Component	Golgi membrane	TAS
GO:0000407	Component	Phagophore assembly site	IDA	15602573, 28561066, 33499712
GO:0000407	Component	Phagophore assembly site	IEA
GO:0000421	Component	Autophagosome membrane	IDA	17618624
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000425	Process	Pexophagy	IBA
GO:0005102	Function	Signaling receptor binding	IDA	15602573
GO:0005515	Function	Protein binding	IPI	28561066
GO:0005737	Component	Cytoplasm	IDA	17618624
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	15020712
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IEP	15602573, 17618624
GO:0008289	Function	Lipid binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	28561066
GO:0010008	Component	Endosome membrane	IDA	15020712
GO:0016020	Component	Membrane	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IDA	15602573
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	28561066
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	15020712, 20505359, 28561066, 31271352
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034045	Component	Phagophore assembly site membrane	IDA	17618624
GO:0034045	Component	Phagophore assembly site membrane	IEA
GO:0034497	Process	Protein localization to phagophore assembly site	IBA
GO:0044804	Process	Nucleophagy	IBA
GO:0048203	Process	Vesicle targeting, trans-Golgi to endosome	IDA	15020712
GO:0050681	Function	Nuclear androgen receptor binding	IDA	15602573
GO:0061723	Process	Glycophagy	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	20505359, 28561066
GO:2000786	Process	Positive regulation of autophagosome assembly	IDA	31271352

MIM	HGNC	e!Ensembl
609224	25471	ENSG00000070540

Q5MNZ9

Protein name

WD repeat domain phosphoinositide-interacting protein 1 (WIPI-1) (Atg18 protein homolog) (WD40 repeat protein interacting with phosphoinositides of 49 kDa) (WIPI 49 kDa)

Protein function

Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:15602573, PubMed:20114074, PubMed:2

Family and domains

Tissue specificity

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. {ECO:0000269|PubMed:1

Sequence

MEAEAADAPPGGVESALSCFSFNQDCTSLATGTKAGYKLFSLSSVEQLDQVHGSNEIPDV
YIVERLFSSSLVVVVSHTKPRQMNVYHFKKGTEICNYSYSSNILSIRLNRQRLLVCLEES
IYIHNIKDMKLLKTLLDIPANPTGLCALSINHSNSYLAYPGSLTSGEIVLYDGNSLKTVC
TIAAHEGTLAAITFNASGSKLASASEKGTVIRVFSVPDGQKLYEFRRGMKRYVTISSLVF
SMDSQFLCASSNTETVHIFKLEQVTNSRPEEPSTWSGYMGKMFMAATNYLPTQVSDMMHQ
DRAFATARLNFSGQRNICTLSTIQKLPRLLVASSSGHLYMYNLDPQDGGECVLIKTHSLL
GSGTTEENKENDLRPSLPQSYAATVARPSASSASTVPGYSEDGGALRGEVIPEHEFATGP
VCLDDENEFPPIILCRGNQKGKTKQS

Sequence length

446

Interactions

View interactions

	KEGG		Reactome
	Autophagy - other Autophagy - animal Alzheimer disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases Shigellosis		Macroautophagy XBP1(S) activates chaperone genes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIPI1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24991767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30669930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	31849593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31759986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24991767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	31021818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28252104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31021818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	31021818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24991767	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	24991767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24991767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	CTD_human_DG	15342952, 16919414, 17175557		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15602573		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30622661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30622661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34335109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	31021818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30206313		★★★★★ ★☆☆☆☆ Found in Text Mining only

WIPI1 (WD repeat domain, phosphoinositide interacting 1)