MTDH metadherin [Homo sapiens] - Gene

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Summary

Official Symbol: MTDHprovided by HGNC
Official Full Name: metadherinprovided by HGNC
Primary source: HGNC:29608
See related: Ensembl:ENSG00000147649; HPRD:17459; MIM:610323; Vega:OTTHUMG00000164692
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: 3D3; AEG1; AEG-1; LYRIC; LYRIC/3D3

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Genomic context

Location :: 8q22.1

Sequence :: Chromosome: 8; NC_000008.10 (98656407..98742488)

See MTDH in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that AEG-1/MTDH was directly regulated by miR-375.
Title: Tumor suppressive microRNA-375 regulates oncogene AEG-1/MTDH in head and neck squamous cell carcinoma (HNSCC).
Gag interacts with endogenous Lyric via its matrix (MA) and nucleocapsid (NC) domains.
Title: The cellular protein lyric interacts with HIV-1 Gag.
AEG-1 plays a crucial role in osteosarcoma progression through MMP-2, and AEG-1 could be a useful biomarker for the prediction of osteosarcoma progression and prognosis
Title: Oncogenic roles of astrocyte elevated gene-1 (AEG-1) in osteosarcoma progression and prognosis.
AEG-1 contributes to glioma-induced neurodegeneration (a hallmark of this fatal tumo) through regulation of EAAT2 expression.
Title: Oncogene AEG-1 promotes glioma-induced neurodegeneration by increasing glutamate excitotoxicity.
Via Affinity purifications, MTDH (aka Lyric) interacts with HIV-1 Gag, is incorporated in virions and cleaved by HIV PR. Lyric interaction is conserved for retroviral Gag proteins. Cotransfections suggest a role for Lyric in regulating HIV infectivity.
Title: The cellular protein lyric interacts with HIV-1 Gag.
HIV-1 Gag interacts with endogenous MTDH (Lyric/Aeg-1) via its matrix (MA) and nucleocapsid (NC) domains. Lyric is incorporated into HIV-1 virions and is cleaved by the HIV protease. Lyric influences HIV protein expression and infectivity.
Title: The cellular protein lyric interacts with HIV-1 Gag.
AEG-1 may play a role in Wnt/beta-catenin-mediated cancer progression
Title: Astrocyte-elevated gene-1 overexpression is associated with poor prognosis in gastric cancer.
Study revealed a modest gene-based significant association between migraine and the metadherin (MTDH) gene, previously identified in the first clinic-based GWA study (GWAS) for migraine (Bonferroni-corrected gene-based P-value=0.026).
Title: Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
AEG-1 is overexpressed in a great portion of epithelial ovarian cancer (EOC) patients with peritoneal dissemination and/or lymph node metastasis and may be clinically useful for predicting metastasis in EOC.
Title: AEG -1 overexpression: a novel indicator for peritoneal dissemination and lymph node metastasis in epithelial ovarian cancers.
SND1 as a novel MTDH-interacting protein and shown that it is a functionally and clinically significant mediator of metastasis.
Title: Identification of staphylococcal nuclease domain-containing 1 (SND1) as a Metadherin-interacting protein with metastasis-promoting functions.

Submit: New GeneRIF Correction See all (46)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Astrocyte elevated gene (AEG)-1 expression is increased in astrocytes infected with HIV-1 or treated with HIV-1 gp120; AEG-1 inhibits excitatory amino acid transporter 2 (EAAT2) promoter activity with the potential to promote glutamate excitotoxicity	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:124913	BioGRID:110455	MME	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124913	BioGRID:119647	OTUD6B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124913	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:124913	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
RNA polymerase II transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
lipopolysaccharide-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of I-kappaB kinase/NF-kappaB cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of autophagy	IDA Inferred from Direct Assay more info
positive regulation of protein kinase B signaling cascade	IDA Inferred from Direct Assay more info	PubMed
tight junction assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
integral to membrane	IEA Inferred from Electronic Annotation more info
intercellular canaliculus	ISS Inferred from Sequence or Structural Similarity more info
membrane	IEA Inferred from Electronic Annotation more info
nuclear body	IDA Inferred from Direct Assay more info	PubMed
nuclear membrane	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
tight junction	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: protein LYRIC

Names: protein LYRIC; 3D3/LYRIC; metastasis adhesion protein; astrocyte elevated gene-1 protein; lysine-rich CEACAM1 co-isolated protein

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_178812.3 → NP_848927.2 protein LYRIC

Status: VALIDATED

Source sequence(s)

AF411226, AP003357, AY082966, BC045642

Consensus CDS

CCDS6274.1

UniProtKB/Swiss-Prot

Q86UE4

Related

ENSP00000338235, OTTHUMP00000227231, ENST00000336273, OTTHUMT00000379772

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

98656407..98742488

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

93862743..93949052

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP002982.2 (173916..176643)	None
genomic	AP003114.1 (3508..35474)	None
genomic	AP003357.2 (766..52153)	None
genomic	CH471060.1	EAW91760.1
		EAW91761.1
		EAW91762.1
mRNA	AF411226.1	AAO65771.1
mRNA	AF501310.1	AAP30791.1
mRNA	AK000745.1	None
mRNA	AK123083.1	None
mRNA	AK308030.1	None
mRNA	AY082966.1	AAL92861.1
mRNA	AY974040.1	AAX84832.1
mRNA	BC001815.1	None
mRNA	BC009324.2	AAH09324.1
mRNA	BC014977.1	AAH14977.1
mRNA	BC022825.1	None
mRNA	BC023994.1	None
mRNA	BC045642.1	AAH45642.1
other-genetic	JF432755.1	ADZ15972.1