WIPI1 (WD repeat domain, phosphoinositide interacting 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 55062
• Gene name: WD repeat domain, phosphoinositide interacting 1
• Gene symbol: WIPI1
• Synonyms (NCBI Gene): ATG18, ATG18A, WIPI49
• 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

miRNA Show/Hide all (80)

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO) 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

Other IDs

• MIM: 609224
• HGNC: 25471
• e!Ensembl: ENSG00000070540

Protein

• UniProt ID: 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
• 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

Pathways

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

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	27989131	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	33020668, 36474045, 38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPIDOSES	—	CTD	15342952, 16919414, 17175557	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29662059, 36738649, 36750733	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	36738649, 38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WIPI1-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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	Pubtator	30622661	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30622661		★☆☆☆☆ 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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FNDC4 2 shared diseasesLipidoses, Lipoidosis 2 shared evidence sourcesCTD (Lipidoses), Disgenet (Lipoidosis) Related via 2 shared diseases including Lipidoses, Lipoidosis — evidence mostly CTD. GDPD3 2 shared diseasesLipidoses, Lipoidosis 2 shared evidence sourcesCTD (Lipidoses), Disgenet (Lipoidosis) Related via 2 shared diseases including Lipidoses, Lipoidosis — evidence mostly CTD. HPN 2 shared diseasesLipidoses, Lipoidosis 2 shared evidence sourcesCTD (Lipidoses), Disgenet (Lipoidosis) Related via 2 shared diseases including Lipidoses, Lipoidosis — evidence mostly CTD. INHBE 2 shared diseasesLipidoses, Lipoidosis 2 shared evidence sourcesCTD (Lipidoses), Disgenet (Lipoidosis) Related via 2 shared diseases including Lipidoses, Lipoidosis — evidence mostly CTD. DEPP1 2 shared diseasesLipidoses, Lipoidosis 2 shared evidence sourcesCTD (Lipidoses), Disgenet (Lipoidosis) Related via 2 shared diseases including Lipidoses, Lipoidosis — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FNDC4	2	["Lipidoses","Lipoidosis"]	0	[]	2	["CTD (Lipidoses)","Disgenet (Lipoidosis)"]
GDPD3	2	["Lipidoses","Lipoidosis"]	0	[]	2	["CTD (Lipidoses)","Disgenet (Lipoidosis)"]
HPN	2	["Lipidoses","Lipoidosis"]	0	[]	2	["CTD (Lipidoses)","Disgenet (Lipoidosis)"]
INHBE	2	["Lipidoses","Lipoidosis"]	0	[]	2	["CTD (Lipidoses)","Disgenet (Lipoidosis)"]
DEPP1	2	["Lipidoses","Lipoidosis"]	0	[]	2	["CTD (Lipidoses)","Disgenet (Lipoidosis)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 1 of 5 related genesHPN Intellectual developmental disorder Linked via 1 of 5 related genesHPN Prostatic neoplasms Linked via 1 of 5 related genesHPN Breast cancer Linked via 1 of 5 related genesINHBE Insomnia Linked via 1 of 5 related genesINHBE

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	1	["HPN"]
Intellectual developmental disorder	1	["HPN"]
Prostatic neoplasms	1	["HPN"]
Breast cancer	1	["INHBE"]
Insomnia	1	["INHBE"]