Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
81671 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Vacuole membrane protein 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
VMP1 |
SynonymsGene synonyms aliases
|
EPG3, TANGO5, TMEM49 |
ChromosomeChromosome number
|
17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q23.1 |
SummarySummary 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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
GLI3 |
Activation |
22535956 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence length |
406 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
24076602, 31407831 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
B-cell lymphoma |
Marginal Zone B-Cell Lymphoma |
|
31407831 |
Lymphocytic leukemia |
Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma |
|
31407831 |
|