MTDH metadherin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTDHprovided by HGNC
Official Full Name: metadherinprovided by HGNC
Primary source: HGNC:HGNC:29608
See related: Ensembl:ENSG00000147649 MIM:610323; AllianceGenome:HGNC:29608
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
Summary: Enables NF-kappaB binding activity; double-stranded RNA binding activity; and transcription coactivator activity. Involved in several processes, including lipopolysaccharide-mediated signaling pathway; positive regulation of intracellular signal transduction; and regulation of DNA-templated transcription. Located in endoplasmic reticulum; nuclear lumen; and perinuclear region of cytoplasm. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 24.7), bone marrow (RPKM 21.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (97644184..97730260)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (98769667..98855740)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (98656412..98742488)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

A Study on the Binding Mechanism and the Impact of Key Residue Mutations between SND1 and MTDH Peptide through Molecular Dynamics Simulations.
Title: A Study on the Binding Mechanism and the Impact of Key Residue Mutations between SND1 and MTDH Peptide through Molecular Dynamics Simulations.
Linc00239 Promotes Colorectal Cancer Development via MicroRNA-182-5p/Metadherin Axis.
Title: Linc00239 Promotes Colorectal Cancer Development via MicroRNA-182-5p/Metadherin Axis.
Metadherin inhibits chemosensitivity of triple-negative breast cancer to paclitaxel via activation of AKT/GSK-3beta signaling pathway.
Title: Metadherin inhibits chemosensitivity of triple-negative breast cancer to paclitaxel via activation of AKT/GSK-3β signaling pathway.
Plasma metadherin mRNA expression in bladder cancer.
Title: Plasma metadherin mRNA expression in bladder cancer.
USP7 promotes cervical cancer progression by stabilizing MTDH expression through deubiquitination.
Title: USP7 promotes cervical cancer progression by stabilizing MTDH expression through deubiquitination.
HIV-1 gp120 amplifies astrocyte elevated gene-1 activity to compromise the integrity of the outer blood-retinal barrier.
Title: HIV-1 gp120 amplifies astrocyte elevated gene-1 activity to compromise the integrity of the outer blood-retinal barrier.
Metadherin promotes stem cell phenotypes and correlated with immune infiltration in hepatocellular carcinoma.
Title: Metadherin promotes stem cell phenotypes and correlated with immune infiltration in hepatocellular carcinoma.
Metadherin orchestrates PKA and PKM2 to activate beta-catenin signaling in podocytes during proteinuric chronic kidney disease.
Title: Metadherin orchestrates PKA and PKM2 to activate β-catenin signaling in podocytes during proteinuric chronic kidney disease.
Using the metabolite alterations monitoring the AEG-1 expression level and cell biological behaviour of U251 cell in vitro.
Title: Using the metabolite alterations monitoring the AEG-1 expression level and cell biological behaviour of U251 cell in vitro.
Expression patterns of AEG-1 in the normal brain.
Title: Expression patterns of AEG-1 in the normal brain.

Submit: New GeneRIF Correction See all GeneRIFs (285)

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 of migraine implicates a common susceptibility variant on 8q22.1. 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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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 excito-toxicity	PubMed
Envelope transmembrane glycoprotein gp41	env	Lyric decreases HIV-1 gp41 expression compared to control cells	PubMed
Pr55(Gag)	gag	HIV-1 Gag interacts with MTDH as demonstrated by proximity dependent biotinylation proteomics	PubMed
	gag	Cellular biotinylated metadherin (MTDH, Lyric, AEG-1) protein is incorporated into HIV-1 Gag virus-like particles	PubMed
	gag	Interaction of HIV-1 Gag with metadherin (MTDH, Lyric) is identified in a series of six affinity purification/mass spectrometry screens	PubMed
	gag	HIV-1 Gag multimerization is a prerequisite for the interaction with Lyric	PubMed
	gag	MA and NC domains of HIV-1 Gag are required for the interaction with Lyric. The Lyric region between amino acids 107 and 204 is essential for the interaction	PubMed
Tat	tat	AEG-1 expression is upregulated in the CNS of HIV-1-infected individuals and corelates with the expression of HIV-1 Tat protein in the brain	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of metadherin (Lyric) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
retropepsin	gag-pol	Lyric is incorporated into viral particles and cleaved at its C-terminus by HIV-1 PR	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

RH36459 (e-PCR)
- UniSTS:74255

D8S1676E (e-PCR)
- UniSTS:153920

A007D43 (e-PCR)
- UniSTS:40772

G60024 (e-PCR)
- UniSTS:137290

RH69405 (e-PCR)
- UniSTS:61270

SHGC-34109 (e-PCR)
- UniSTS:18519

Mtdh (e-PCR), detects polymorphism
- UniSTS:526938

RH45730 (e-PCR)
- UniSTS:20095

D8S2022 (e-PCR)
- UniSTS:25486

D8S1375E (e-PCR)
- UniSTS:151188

SGC44379 (e-PCR)
- UniSTS:52637

WIAF-2226 (e-PCR)
- UniSTS:10668

D8S1439E (e-PCR)
- UniSTS:151228

RH17796 (e-PCR)
- UniSTS:48584

WI-16602 (e-PCR)
- UniSTS:81622

D13S1639 (e-PCR)
- UniSTS:473568

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lipopolysaccharide-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in intercellular canaliculus	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein LYRIC

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

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.

mRNA and Protein(s)

NM_001363136.1 → NP_001350065.1 protein LYRIC isoform 2

Status: VALIDATED

Source sequence(s)

AF411226, AP003357, AY082966, BC045642, DA213697, DW426198

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 400

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
NM_001363137.1 → NP_001350066.1 protein LYRIC isoform 3

Status: VALIDATED

Source sequence(s)

AF411226, AP003357, AY082966, BC045642

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 452

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
NM_001363138.1 → NP_001350067.1 protein LYRIC isoform 4

Status: VALIDATED

Source sequence(s)

AF411226, AK308030, AP003357, AY082966, BC045642

UniProtKB/TrEMBL

E5RJU9

Related

ENSP00000428168.1, ENST00000519934.5

Conserved Domains (1) summary

pfam15686
Location:6 → 389

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
NM_001363139.1 → NP_001350068.1 protein LYRIC isoform 5

Status: VALIDATED

Source sequence(s)

AF411226, AK308030, AP003357, AY082966, BC045642, DW426198

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 367

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
NM_178812.4 → NP_848927.2 protein LYRIC isoform 1

See identical proteins and their annotated locations for NP_848927.2

Status: VALIDATED

Source sequence(s)

AF411226, AP003357, AY082966, BC045642

Consensus CDS

CCDS6274.1

UniProtKB/Swiss-Prot

Q05DH2, Q52QU9, Q6PK07, Q86UE4, Q8TCX3

UniProtKB/TrEMBL

E5RJU9

Related

ENSP00000338235.3, ENST00000336273.8

Conserved Domains (1) summary

pfam15686
Location:6 → 422

LYRIC; Lysine-rich CEACAM1 co-isolated protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

97644184..97730260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517369.4 → XP_011515671.1 protein LYRIC isoform X2

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 452

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
XM_011517370.4 → XP_011515672.1 protein LYRIC isoform X3

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 422

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
XM_017013968.3 → XP_016869457.1 protein LYRIC isoform X5

UniProtKB/TrEMBL

E5RJU9
XM_011517368.3 → XP_011515670.1 protein LYRIC isoform X1

UniProtKB/TrEMBL

E5RJU9

Conserved Domains (1) summary

pfam15686
Location:6 → 430

LYRIC; Lysine-rich CEACAM1 co-isolated protein family
XM_047422418.1 → XP_047278374.1 protein LYRIC isoform X4