VMP1 vacuole membrane protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VMP1provided by HGNC
Official Full Name: vacuole membrane protein 1provided by HGNC
Primary source: HGNC:HGNC:29559
See related: Ensembl:ENSG00000062716 MIM:611753; AllianceGenome:HGNC:29559
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPG3; TANGO5; TMEM49
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 in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in gall bladder (RPKM 60.7), appendix (RPKM 49.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (59707654..59842255)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (60576403..60711009)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (57785015..57919616)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered vacuole membrane protein 1 (VMP1) expression is associated with increased NLRP3 inflammasome activation and mitochondrial dysfunction.
Title: Altered vacuole membrane protein 1 (VMP1) expression is associated with increased NLRP3 inflammasome activation and mitochondrial dysfunction.
CircVMP1 promotes glycolysis and disease progression by upregulating HKDC1 in colorectal cancer.
Title: CircVMP1 promotes glycolysis and disease progression by upregulating HKDC1 in colorectal cancer.
Ubiquitination Is a Novel Post-Translational Modification of VMP1 in Autophagy of Human Tumor Cells.
Title: Ubiquitination Is a Novel Post-Translational Modification of VMP1 in Autophagy of Human Tumor Cells.
Protein expression in exocrine pancreatic diseases. Focus on VMP1 mediated autophagy.
Title: Protein expression in exocrine pancreatic diseases. Focus on VMP1 mediated autophagy.
Lack of VMP1 impairs hepatic lipoprotein secretion and promotes non-alcoholic steatohepatitis.
Title: Lack of VMP1 impairs hepatic lipoprotein secretion and promotes non-alcoholic steatohepatitis.
VMP1 promotes exosome secretion and enhances 5-FU resistance in colon cancer cells.
Title: VMP1 promotes exosome secretion and enhances 5-FU resistance in colon cancer cells.
Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.
Title: Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.
VMP1 and TMEM41B are essential for DMV formation during beta-coronavirus infection.
Title: VMP1 and TMEM41B are essential for DMV formation during β-coronavirus infection.
VMP1, a novel prognostic biomarker, contributes to glioma development by regulating autophagy.
Title: VMP1, a novel prognostic biomarker, contributes to glioma development by regulating autophagy.
Essential role for autophagy protein VMP1 in maintaining neuronal homeostasis and preventing axonal degeneration.
Title: Essential role for autophagy protein VMP1 in maintaining neuronal homeostasis and preventing axonal degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of vacuole membrane protein 1 (VMP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48465 (e-PCR)
- UniSTS:37646

RH46129 (e-PCR)
- UniSTS:34852

G42376 (e-PCR)
- UniSTS:94282

G42384 (e-PCR)
- UniSTS:94288

G42203 (e-PCR)
- UniSTS:93306

SHGC-64257 (e-PCR)
- UniSTS:3963

RH91780 (e-PCR)
- UniSTS:83594

G42241 (e-PCR)
- UniSTS:93344

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagosome membrane docking	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in lipoprotein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion-endoplasmic reticulum membrane tethering	IDA Inferred from Direct Assay more info	PubMed
involved_in organelle localization by membrane tethering	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane phospholipid scrambling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ATPase-coupled calcium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in autophagosome membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in phagophore assembly site	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: vacuole membrane protein 1

Names: ectopic P-granules autophagy protein 3 homolog; transmembrane protein 49; transport and golgi organization 5 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.