MTPN myotrophin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTPNprovided by HGNC
Official Full Name: myotrophinprovided by HGNC
Primary source: HGNC:HGNC:15667
See related: Ensembl:ENSG00000105887 MIM:606484; AllianceGenome:HGNC:15667
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: V-1; GCDP
Summary: The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 74.6), esophagus (RPKM 68.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (135926760..135977359, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (137233963..137284569, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (135611508..135662107, complement)

Chromosome 7 - NC_000007.14 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 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?

The ATO/miRNA-885-5p/MTPN axis induces reversal of drug-resistance in cholangiocarcinoma.
Title: The ATO/miRNA-885-5p/MTPN axis induces reversal of drug-resistance in cholangiocarcinoma.
Crystal structure of human V-1 in the apo form.
Title: Crystal structure of human V-1 in the apo form.
Lysyl oxidase suppresses the inflammatory response in anterior cruciate ligament fibroblasts and promotes tissue regeneration by targeting myotrophin via the nuclear factor-kappa B pathway.
Title: Lysyl oxidase suppresses the inflammatory response in anterior cruciate ligament fibroblasts and promotes tissue regeneration by targeting myotrophin via the nuclear factor-kappa B pathway.
V-1 and CARMIL induce changes in both proteins' binding sites on the surface of capping proteins, along with a set of internal residues.
Title: Allosteric Coupling of CARMIL and V-1 Binding to Capping Protein Revealed by Hydrogen-Deuterium Exchange.
In our findings 9cRA emerges has a hormone with a regulatory action on miR-375 that in most cases interfere with Mtpn expression.
Title: 9-cis Retinoic acid modulates myotrophin expression and its miR in physiological and pathophysiological cell models.
T allele of rs17168525 in the 3'-UTR of myotrophin influence the level of myotrophin protein by interfering with let-7 binding.The T allele of MTPN rs17168525 is not associated with the left ventricular hypertrophy risk in essential hypertension patients.
Title: The Human Myotrophin Variant Attenuates MicroRNA-Let-7 Binding Ability but Not Risk of Left Ventricular Hypertrophy in Human Essential Hypertension.
a novel internal ribosome entry site-mediated mechanism may be responsible for the translation of unconventional self-Ag MPD6 in response to IFN-alpha stimulation.
Title: An unconventional antigen translated by a novel internal ribosome entry site elicits antitumor humoral immune reactions.
myotrophin/V-1 is a regulatory protein for modulating the levels of activated NFkappaB dimers.
Title: Myotrophin/V-1, a protein up-regulated in the failing human heart and in postnatal cerebellum, converts NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70309 (e-PCR)
- UniSTS:48940

STS-N23029 (e-PCR)
- UniSTS:9792

WI-21170 (e-PCR)
- UniSTS:13149

SHGC-141825 (e-PCR)
- UniSTS:184517

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in catecholamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebellar granule cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macromolecule biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of barbed-end actin filament capping	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell size	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of striated muscle tissue development	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of translation	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info
involved_in striated muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of F-actin capping protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myotrophin

Names: granule cell differentiation protein; protein V-1

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.