• Gene id: 55062

Gene Summary

• Gene Symbol: WIPI1   Gene   UCSC   Ensembl
• Aliases: ATG18, ATG18A, WIPI49
• Gene name: WD repeat domain, phosphoinositide interacting 1
• Alternate names: WD repeat domain phosphoinositide-interacting protein 1, WIPI-1 alpha, atg18 protein homolog,
• Gene location: 17q24.2 (68457523: 68421280)     Exons: 14     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 609224

Protein Summary

• Protein general information: Q5MNZ9  
  • 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)
  • Length: 446  
  • Mass: 48673
  • 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
• Sequence:

  MEAEAADAPPGGVESALSCFSFNQDCTSLATGTKAGYKLFSLSSVEQLDQVHGSNEIPDVYIVERLFSSSLVVVV
  SHTKPRQMNVYHFKKGTEICNYSYSSNILSIRLNRQRLLVCLEESIYIHNIKDMKLLKTLLDIPANPTGLCALSI
  NHSNSYLAYPGSLTSGEIVLYDGNSLKTVCTIAAHEGTLAAITFNASGSKLASASEKGTVIRVFSVPDGQKLYEF
  RRGMKRYVTISSLVFSMDSQFLCASSNTETVHIFKLEQVTNSRPEEPSTWSGYMGKMFMAATNYLPTQVSDMMHQ
  DRAFATARLNFSGQRNICTLSTIQKLPRLLVASSSGHLYMYNLDPQDGGECVLIKTHSLLGSGTTEENKENDLRP
  SLPQSYAATVARPSASSASTVPGYSEDGGALRGEVIPEHEFATGPVCLDDENEFPPIILCRGNQKGKTKQS

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR036322  IPR032909  
  • STRING: ENSP00000262139
• Other Databases: GeneCards:  WIPI1  Malacards:  WIPI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000045	autophagosome assembly	IBA	biological process
GO:0000422	autophagy of mitochondrion	IBA	biological process
GO:0006497	protein lipidation	IBA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0034045	phagophore assembly site membrane	IBA	cellular component
GO:0044804	autophagy of nucleus	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0019898	extrinsic component of membrane	IBA	cellular component
GO:0034497	protein localization to phagophore assembly site	IBA	biological process
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0000407	phagophore assembly site	IDA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000045	autophagosome assembly	IMP	biological process
GO:0006914	autophagy	IEA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000407	phagophore assembly site	IDA	cellular component
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0016236	macroautophagy	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0034045	phagophore assembly site membrane	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0034045	phagophore assembly site membrane	IDA	cellular component
GO:0030331	estrogen receptor binding	IDA	molecular function
GO:0000421	autophagosome membrane	IDA	cellular component
GO:0050681	androgen receptor binding	IDA	molecular function
GO:0048203	vesicle targeting, trans-Golgi to endosome	IDA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0006914	autophagy	IEP	biological process
GO:0006914	autophagy	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05131	Shigellosis
hsa05017	Spinocerebellar ataxia
hsa04140	Autophagy - animal
hsa04136	Autophagy - other

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq