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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 17940279
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 27503924
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28089356
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27415425
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 27503924 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23637631, 31442252
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 21467264, 23637631, 31442252 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34311746 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27023910
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 31407831
★★☆☆☆
Found in Text Mining + Unknown/Other Associations