Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55062
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain, phosphoinositide interacting 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WIPI1
Synonyms (NCBI Gene) Gene synonyms aliases
ATG18, ATG18A, WIPI49
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
GO:0000421 Component Autophagosome membrane IDA 17618624
GO:0000422 Process Autophagy of mitochondrion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609224 25471 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
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29662059 ClinVar
Coronary artery disease Coronary artery disease GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 31759986
Carcinogenesis Associate 24991767
Diabetes Mellitus Type 2 Associate 28252104
Isodicentric Chromosome 15 Syndrome Inhibit 24991767
Leukemia Myeloid Acute Inhibit 24991767
Leukemia Promyelocytic Acute Associate 24991767
Melanoma Associate 30622661
Neoplasms Associate 24991767
Osteosarcoma Associate 34335109