Aliases for MPEG1 Gene

Aliases for MPEG1 Gene

  • Macrophage Expressed 1 2 3 5
  • Macrophage-Expressed Gene 1 Protein 3 4
  • Macrophage Expressed Gene 1 2 3
  • Macrophage Gene 1 Protein 3 4
  • Mpg-1 3 4
  • MPG1 2 3
  • P-2 3 4
  • Perforin 2 3
  • Perforin-2 4
  • IMD77 3
  • MPEG1 5
  • MPS1 3

External Ids for MPEG1 Gene

Previous GeneCards Identifiers for MPEG1 Gene

  • GC11M059228
  • GC11M058753
  • GC11M058751
  • GC11M058733
  • GC11M058975
  • GC11M055321

Summaries for MPEG1 Gene

GeneCards Summary for MPEG1 Gene

MPEG1 (Macrophage Expressed 1) is a Protein Coding gene. Diseases associated with MPEG1 include Immunodeficiency 77 and Migraine, Familial Hemiplegic, 1. Among its related pathways are Cell cycle.

UniProtKB/Swiss-Prot Summary for MPEG1 Gene

  • Plays a key role in the innate immune response following bacterial infection by inserting into the bacterial surface to form pores (By similarity). By breaching the surface of phagocytosed bacteria, allows antimicrobial effectors to enter the bacterial periplasmic space and degrade bacterial proteins such as superoxide dismutase sodC which contributes to bacterial virulence (By similarity). Shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria (PubMed:23753625, PubMed:26402460, PubMed:30609079). Reduces the viability of the intracytosolic pathogen L.monocytogenes by inhibiting acidification of the phagocytic vacuole of host cells which restricts bacterial translocation from the vacuole to the cytosol (By similarity). Required for the antibacterial activity of reactive oxygen species and nitric oxide (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPEG1 Gene

Genomics for MPEG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPEG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J059220 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -9.9 -9889 4.7 CTCF CEBPB EP300 RFX5 RAD21 SPI1 BATF IKZF1 ATF4 SP1 lnc-MPEG1-8 PATL1 MPEG1 DTX4 OR4D6 OR5A2 OR5A1 OR5AN1 FAM111A OSBP
GH11J059182 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.4 +25.3 25336 10.6 POLR2A YY1 CTCF CEBPB TRIM22 SIN3A MAFF RXRA SMC3 ZNF316 DTX4 MPEG1 OR5A2 OR4D6 OR5A1 lnc-MPEG1-4 HSALNG0084392-002
GH11J059215 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.6 -4.2 -4242 2.5 BCLAF1 SP1 BCL11A ZNF592 TRIM22 GABPA IRF4 EBF1 CBFB SMARCA5 DTX4 MPEG1 PATL1 FAM111A OSBP HSALNG0084398 lnc-MPEG1-8 OR5AN1
GH11J059193 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.5 +13.8 13827 6.2 ATF3 YY1 BCL11A ZNF592 TRIM22 CTCF NR2C1 RXRA RAD21 IRF4 HSALNG0084393 DTX4 OR4D6 OR5A2 OR5A1 OR5AN1 MPEG1 PATL1 FAM111A piR-39483
GH11J058770 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +439.1 439126 8.8 NCOR1 IKZF1 ZNF592 NFIC NONO REST SMAD5 HES1 BHLHE40 MBD2 ENSG00000269570 OR5B21 LPXN GLYATL2 MPEG1 HSALNG0084366-001 HSALNG0084366-002 lnc-GLYATL2-3 GLYAT GLYATL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPEG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPEG1

Top Transcription factor binding sites by QIAGEN in the MPEG1 gene promoter:
  • Chx10
  • Evi-1
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a

Genomic Locations for MPEG1 Gene

Latest Assembly
chr11:59,208,510-59,212,927
(GRCh38/hg38)
Size:
4,418 bases
Orientation:
Minus strand

Previous Assembly
chr11:58,975,983-58,980,400
(GRCh37/hg19 by Entrez Gene)
Size:
4,418 bases
Orientation:
Minus strand

chr11:58,975,983-58,980,424
(GRCh37/hg19 by Ensembl)
Size:
4,442 bases
Orientation:
Minus strand

Genomic View for MPEG1 Gene

Genes around MPEG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPEG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPEG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPEG1 Gene

Proteins for MPEG1 Gene

  • Protein details for MPEG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M385-MPEG1_HUMAN
    Recommended name:
    Macrophage-expressed gene 1 protein
    Protein Accession:
    Q2M385
    Secondary Accessions:
    • Q2M1T6
    • Q8TEF8

    Protein attributes for MPEG1 Gene

    Size:
    716 amino acids
    Molecular mass:
    78587 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84992.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Lacks the C-terminal transmembrane domain.

    Three dimensional structures from OCA and Proteopedia for MPEG1 Gene

    Alternative splice isoforms for MPEG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPEG1 Gene

Post-translational modifications for MPEG1 Gene

  • Monoubiquitinated in response to bacterial infection; ubiquitination is required for vesicular localization and antibacterial activity and can be blocked by bacterial cell cycle inhibiting factor (cif) (By similarity).
  • Glycosylation at Asn185, Asn255, Asn269, and Asn375
  • Modification sites at PhosphoSitePlus

Other Protein References for MPEG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MPEG1 Gene

Domains & Families for MPEG1 Gene

Gene Families for MPEG1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MPEG1 Gene

InterPro:

Suggested Antigen Peptide Sequences for MPEG1 Gene

GenScript: Design optimal peptide antigens:
  • Macrophage-expressed gene 1 protein (MPEG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M385

UniProtKB/Swiss-Prot:

MPEG1_HUMAN :
  • Belongs to the MPEG1 family.
Family:
  • Belongs to the MPEG1 family.
genes like me logo Genes that share domains with MPEG1: view

Function for MPEG1 Gene

Molecular function for MPEG1 Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in the innate immune response following bacterial infection by inserting into the bacterial surface to form pores (By similarity). By breaching the surface of phagocytosed bacteria, allows antimicrobial effectors to enter the bacterial periplasmic space and degrade bacterial proteins such as superoxide dismutase sodC which contributes to bacterial virulence (By similarity). Shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria (PubMed:23753625, PubMed:26402460, PubMed:30609079). Reduces the viability of the intracytosolic pathogen L.monocytogenes by inhibiting acidification of the phagocytic vacuole of host cells which restricts bacterial translocation from the vacuole to the cytosol (By similarity). Required for the antibacterial activity of reactive oxygen species and nitric oxide (By similarity).
UniProtKB/Swiss-Prot Induction:
By wounding; increased levels are observed in hematopoietic cells 48 hours after wounding (PubMed:30609079). Following wounding, repressed by infection with S.aureus (PubMed:30609079). Isoform 1: By lipopolysaccharide and TNF (PubMed:28705375). Isoform 2: By lipopolysaccharide and TNF (PubMed:28705375).

Phenotypes From GWAS Catalog for MPEG1 Gene

Phenotypes for MPEG1 Gene

genes like me logo Genes that share phenotypes with MPEG1: view

Animal Models for MPEG1 Gene

MGI Knock Outs for MPEG1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPEG1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MPEG1 Gene

Localization for MPEG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPEG1 Gene

[Isoform 1]: Cytoplasmic vesicle membrane. Single-pass type I membrane protein. Note=Bacterial infection induces translocation of the cytoplasmic vesicles to bacterium-containing phagocytic vesicles and fusing of the vesicles. {ECO:0000269 PubMed:28705375}.
[Isoform 2]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPEG1 gene
Compartment Confidence
extracellular 4
peroxisome 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MPEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA,IDA 26402460
genes like me logo Genes that share ontologies with MPEG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MPEG1 Gene

Pathways & Interactions for MPEG1 Gene

PathCards logo

SuperPathways for MPEG1 Gene

SuperPathway Contained pathways
1 Cell cycle
genes like me logo Genes that share pathways with MPEG1: view

Pathways by source for MPEG1 Gene

1 BioSystems pathway for MPEG1 Gene

Gene Ontology (GO) - Biological Process for MPEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0035915 pore formation in membrane of other organism ISS --
GO:0042742 defense response to bacterium IMP 26402460
GO:0045087 innate immune response IEA --
GO:0050829 defense response to Gram-negative bacterium ISS --
genes like me logo Genes that share ontologies with MPEG1: view

No data available for SIGNOR curated interactions for MPEG1 Gene

Drugs & Compounds for MPEG1 Gene

No Compound Related Data Available

Transcripts for MPEG1 Gene

mRNA/cDNA for MPEG1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPEG1

Alternative Splicing Database (ASD) splice patterns (SP) for MPEG1 Gene

No ASD Table

Relevant External Links for MPEG1 Gene

GeneLoc Exon Structure for
MPEG1

Expression for MPEG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MPEG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MPEG1 Gene

This gene is overexpressed in Testis (25.5), Peripheral blood mononuclear cells (25.1), and Monocytes (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MPEG1 Gene



Protein tissue co-expression partners for MPEG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPEG1

SOURCE GeneReport for Unigene cluster for MPEG1 Gene:

Hs.744920

mRNA Expression by UniProt/SwissProt for MPEG1 Gene:

Q2M385-MPEG1_HUMAN
Tissue specificity: Expressed constitutively in a variety of cell types including macrophages, natural killer cells, neutrophils, keratinocytes and monocytes (PubMed:26402460, PubMed:28705375, PubMed:7888681). In skin, expressed in both hematopoietic and non-hematopoietic cells with expression detected in a variety of cell types including keratinocytes, fibroblasts and endothelial cells (PubMed:30609079).

Evidence on tissue expression from TISSUES for MPEG1 Gene

  • Spleen(4.6)
  • Nervous system(4.4)
  • Intestine(2.5)
  • Lymph node(2.4)
  • Liver(2.3)
  • Heart(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with MPEG1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPEG1 Gene

Orthologs for MPEG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPEG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MPEG1 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MPEG1 29 30
  • 83.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MPEG1 29 30
  • 81.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mpeg1 29
  • 80.15 (n)
Mouse
(Mus musculus)
Mammalia Mpeg1 29 16 30
  • 79.34 (n)
OneToMany
Pfpl 30
  • 63 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia MPEG1 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MPEG1 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MPEG1 29 30
  • 65.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MPEG1 30
  • 56 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii mpeg1 29 30
  • 54.79 (n)
OneToMany
MPEG1 (1 of 3) 30
  • 47 (a)
OneToMany
MPEG1 (3 of 3) 30
  • 47 (a)
OneToMany
wufb14d06 29
Species where no ortholog for MPEG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MPEG1 Gene

ENSEMBL:
Gene Tree for MPEG1 (if available)
TreeFam:
Gene Tree for MPEG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPEG1: view image
Alliance of Genome Resources:
Additional Orthologs for MPEG1

Paralogs for MPEG1 Gene

Pseudogenes.org Pseudogenes for MPEG1 Gene

genes like me logo Genes that share paralogs with MPEG1: view

No data available for Paralogs for MPEG1 Gene

Variants for MPEG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPEG1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1035586 Pathogenic: IMMUNODEFICIENCY 77 59,212,649(-) T/C
NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)
MISSENSE
1035588 Pathogenic: IMMUNODEFICIENCY 77 59,211,674(-) G/A
NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter)
NONSENSE
1035590 Pathogenic: IMMUNODEFICIENCY 77 59,211,653(-) G/T
NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)
MISSENSE
978045 Uncertain Significance: MPEG1-related immunodeficiency; IMMUNODEFICIENCY 77 59,211,576(-) G/T
NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)
NONSENSE
rs146004268 Likely Benign: not provided 59,212,337(-) C/T
NM_001039396.2(MPEG1):c.529G>A (p.Asp177Asn)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MPEG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MPEG1 Gene

Variant ID Type Subtype PubMed ID
esv2759830 CNV gain 17122850
nsv1050013 CNV gain 25217958

Variation tolerance for MPEG1 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.89; 83.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPEG1 Gene

Human Gene Mutation Database (HGMD)
MPEG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPEG1
Leiden Open Variation Database (LOVD)
MPEG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPEG1 Gene

Disorders for MPEG1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MPEG1 Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 77
  • imd77
migraine, familial hemiplegic, 1
  • fhm1
tafro syndrome
  • thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
pituitary adenoma 1, multiple types
  • pita1
cardiomyopathy, familial hypertrophic, 2
  • cmh2
- elite association - COSMIC cancer census association via MalaCards
Search MPEG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPEG1

genes like me logo Genes that share disorders with MPEG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPEG1 Gene

Publications for MPEG1 Gene

  1. Isolation of a novel macrophage-specific gene by differential cDNA analysis. (PMID: 7888681) Spilsbury K … Takayama Y (Blood 1995) 2 3 4
  2. Single cell analyses reveal specific distribution of anti-bacterial molecule Perforin-2 in human skin and its modulation by wounding and Staphylococcus aureus infection. (PMID: 30609079) Strbo N … Tomic-Canic M (Experimental dermatology 2019) 3 4
  3. Regulation of expression and trafficking of perforin-2 by LPS and TNF-α. (PMID: 28705375) Xiong P … Ogawa Y (Cellular immunology 2017) 3 4
  4. Perforin-2 is essential for intracellular defense of parenchymal cells and phagocytes against pathogenic bacteria. (PMID: 26402460) McCormack RM … Podack ER (eLife 2015) 3 4
  5. Perforin-2 restricts growth of Chlamydia trachomatis in macrophages. (PMID: 23753625) Fields KA … Podack ER (Infection and immunity 2013) 3 4

Products for MPEG1 Gene

Sources for MPEG1 Gene