Gene Gene information from NCBI Gene database.
Entrez ID 81671
Gene name Vacuole membrane protein 1
Gene symbol VMP1
Synonyms (NCBI Gene)
EPG3TANGO5TMEM49
Chromosome 17
Chromosome location 17q23.1
Summary This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed
miRNA miRNA information provided by mirtarbase database.
2324
miRTarBase ID miRNA Experiments Reference
MIRT006663 hsa-miR-210-3p Luciferase reporter assayMicroarrayWestern blot 22144109
MIRT006663 hsa-miR-210-3p Luciferase reporter assayMicroarrayWestern blot 22144109
MIRT023611 hsa-miR-1-3p Proteomics 18668040
MIRT031480 hsa-miR-16-5p Proteomics 18668040
MIRT050331 hsa-miR-25-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GLI3 Activation 22535956
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000045 Process Autophagosome assembly IMP 30093494, 30933966
GO:0000407 Component Phagophore assembly site IEA
GO:0000421 Component Autophagosome membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611753 29559 ENSG00000062716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GC9
Protein name Vacuole membrane protein 1 (Transmembrane protein 49)
Protein function Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (PubMed:33850023, PubMed:33929485). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and pho
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09335 SNARE_assoc 190 303 SNARE associated Golgi protein Family
Sequence
MAENGKNCDQRRVAMNKEHHNGNFTDPSSVNEKKRREREERQNIVLWRQPLITLQYFSLE
ILVILKEWTSKLWHRQSIVVSFLLLLAVLIATYYVEGVHQQYVQRIEKQFLLYAYWIGLG
ILSSVGLGTGLHTFLLYLGPHIASVTLAAYECNSVNFPEPPYPDQIICPDEEGTEGTISL
WSIISKVRIEACMWGIGTAIGELPPYFMARAARLSGAEPDDEEYQEFEEMLEHAESAQDF
ASRAKLAVQKLVQKVGFFGILACASIPNPLFDLAGITCGHFLVPFWTFFGATLIGKAIIK
MHI
QKIFVIITFSKHIVEQMVAFIGAVPGIGPSLQKPFQEYLEAQRQKLHHKSEMGTPQG
ENWLSWMFEKLVVVMVCYFILSIINSMAQSYAKRIQQRLNSEEKTK
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Monoclonal B-Cell Lymphocytosis Uncertain significance rs869025245 RCV000208550
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27503924
Adenocarcinoma of Lung Associate 35029906
Barrett Esophagus Associate 27503924
Breast Neoplasms Associate 21467264, 23637631, 31442252
Carcinogenesis Associate 34311746
Carcinoma Non Small Cell Lung Associate 35467477
Colorectal Neoplasms Associate 33318473
Coronavirus Infections Associate 35536318
COVID 19 Associate 35536318
Crohn Disease Associate 25144570, 37331566