MPEG1 macrophage expressed 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPEG1provided by HGNC
Official Full Name: macrophage expressed 1provided by HGNC
Primary source: HGNC:HGNC:29619
See related: Ensembl:ENSG00000197629 MIM:610390; AllianceGenome:HGNC:29619
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P-2; MPG1; MPS1; IMD77; Mpg-1
Summary: Involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Located in cytoplasmic vesicle. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 11q12.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (59208510..59212927, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (59157683..59162100, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (58975983..58980400, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intracellular Staphylococcus aureus triggers pyroptosis and contributes to inhibition of healing due to perforin-2 suppression.
Title: Intracellular Staphylococcus aureus triggers pyroptosis and contributes to inhibition of healing due to perforin-2 suppression.
Macrophage-specific protein perforin-2 is associated with poor neurological recovery and reduced survival after sudden cardiac arrest.
Title: Macrophage-specific protein perforin-2 is associated with poor neurological recovery and reduced survival after sudden cardiac arrest.
Breaching the Bacterial Envelope: The Pivotal Role of Perforin-2 (MPEG1) Within Phagocytes.
Title: Breaching the Bacterial Envelope: The Pivotal Role of Perforin-2 (MPEG1) Within Phagocytes.
these data provide the evidence that membrane-bound and secretory isoforms of perforin-2 are present in human macrophages and may play important roles in immune defense
Title: Regulation of expression and trafficking of perforin-2 by LPS and TNF-α.
Collectively, these studies further underscore the biological significance of Perforin-2 and elucidate critical molecular events that culminate in Perforin-2-dependent killing of both intracellular and extracellular, cell-adherent bacteria.
Title: Enteric pathogens deploy cell cycle inhibiting factors to block the bactericidal activity of Perforin-2.
the impact of Perforin-2/macrophage-expressed protein 1 from the earliest multicellular organisms to modern vertebrates, as well as review the development of other membrane attack complexes of complement and Perforin domain member proteins
Title: Perforin-2/Mpeg1 and other pore-forming proteins throughout evolution.
Knockdown of perforin-2 in macrophages did not alter the invasion of host cells but did result in chlamydial growth that closely mirrored that detected in HeLa cells.
Title: Perforin-2 restricts growth of Chlamydia trachomatis in macrophages.

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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

Associated conditions

Description	Tests
Immunodeficiency 77 MedGen: C5543173 OMIM: 619223 GeneReviews: Not available	not available

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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of macrophage expressed 1 (MPEG1) in human primary T 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

STS-T98251 (e-PCR)
- UniSTS:42020

D11S4376 (e-PCR)
- UniSTS:75576

RH16197 (e-PCR)
- UniSTS:4233

RH17632 (e-PCR)
- UniSTS:54187

SHGC-172487 (e-PCR)
- UniSTS:182477

SHGC-34178 (e-PCR)
- UniSTS:79860

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables wide pore channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antibacterial innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in antigen processing and presentation of exogenous peptide antigen	ISS Inferred from Sequence or Structural Similarity more info
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class I	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendritic cell antigen processing and presentation	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in phagocytic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in phagolysosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: macrophage-expressed gene 1 protein

Names: macrophage expressed gene 1; macrophage gene 1 protein; perforin 2

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.