Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81671
Gene name Gene Name - the full gene name approved by the HGNC.
Vacuole membrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VMP1
Synonyms (NCBI Gene) Gene synonyms aliases
EPG3, TANGO5, TMEM49
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006663 hsa-miR-210-3p Luciferase reporter assay, Microarray, Western blot 22144109
MIRT006663 hsa-miR-210-3p Luciferase reporter assay, Microarray, Western 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 factor Regulation Reference
GLI3 Activation 22535956
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 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611753 29559 ENSG00000062716
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
B-Cell Lymphocytosis monoclonal b-cell lymphocytosis N/A N/A ClinVar
Breast Cancer Breast cancer N/A N/A GWAS
Iron deficiency anemia Iron deficiency anemia N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease 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